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Gene

GABRA1

gamma-aminobutyric acid type A receptor subunit alpha1

Summary

Cytogenetic location
5q34
Coordinates
Chromosome 5: 161,848,120–161,899,971 (GRCh38)
Exons
10 exons across 51.9 kb
Protein
456 amino acids
Also known as
EJM5
MANE Select transcript
ENST00000393943.10NM_001127644.2
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Epilepsy (Full Panel)

      • Epilepsy

        One of 171 genes linked to it

        A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.

        • ClinGen rates the link definitive
        • 5 GenCC submitters rate it definitive or strong

    How GABRA1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 5, with a bracket where GABRA1 sits. GABRA1 and 3 genes near it on chromosome 5, from 161,374,046 to 162,374,045.Chromosome 55q34p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.3161.4 Mb161.6 Mb161.8 Mb162 Mb162.2 MbGABRB2: 161,288,418–161,549,044, reverse strandGABRB2GABRA6: 161,547,063–161,702,593, forward strandGABRA6GABRA1: 161,848,120–161,899,971, forward strandGABRA1GABRG2: 162,000,057–162,162,977, forward strandGABRG2Diagram of GABRA1: 10 exons on the forward strand of chromosome 5Exon 2: 2 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 4: 1 known disease-causing siteExon 5: 9 known disease-causing sitesExon 6: 1 known disease-causing siteExon 7: 6 known disease-causing sitesExon 8: 13 known disease-causing sitesExon 9: 14 known disease-causing sitesExon 10: 2 known disease-causing sitesExon 1: 161,848,120–161,848,422, 303 basesExon 2: 161,850,796–161,850,884, 89 basesExon 3: 161,854,158–161,854,270, 113 basesExon 4: 161,865,721–161,865,788, 68 basesExon 5: 161,873,117–161,873,337, 221 basesExon 6: 161,875,560–161,875,642, 83 basesExon 7: 161,882,558–161,882,701, 144 basesExon 8: 161,890,898–161,891,050, 153 basesExon 9: 161,895,666–161,895,868, 203 basesExon 10: 161,897,111–161,899,971, 2,861 bases123456789105′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 4.2 kb of the gene's 51.9 kb; 1,371 of those bases code for the protein.

    How a genome test reads GABRA1

    58

    positions in GABRA1 where ClinVar classes a change as pathogenic or likely pathogenic

    None of them falls in a region short reads find hard.

    A whole genome covers all 51.9 kb of GABRA1, introns included, not only the 4.2 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). GABRA1 gene: gamma-aminobutyric acid type A receptor subunit alpha1. Retrieved 17 October 2026, from https://dantelabs.com/genes/gabra1

    Vancouver

    Dante Labs. GABRA1 gene: gamma-aminobutyric acid type A receptor subunit alpha1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gabra1

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