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Gene

GNAL

G protein subunit alpha L

Summary

Cytogenetic location
18p11.21
Coordinates
Chromosome 18: 11,689,264–11,885,685 (GRCh38)
Exons
12 exons across 196.4 kb
Protein
458 amino acids
Inheritance
Autosomal dominant
MANE Select transcript
ENST00000334049.11NM_182978.4
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

  • Dystonia, Myotonia, Paroxysmal Dyskinesia

    • Dystonia 25Autosomal dominant

      Autosomal dominant focal dystonia, DYT25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia.

      • 4 GenCC submitters rate it definitive or strong
    • Inherited Dystonia

      Umbrella term covering inherited dystonias, including DYT-TOR1A early-onset generalized dystonia, DYT-THAP1, myoclonus-dystonia (SGCE) and KMT2B-related dystonia.

      • 4 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How GNAL is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 18, with a bracket where GNAL sits. GNAL and 6 genes near it on chromosome 18, from 11,287,475 to 12,287,474.Chromosome 1818p11.21p11.32p11.31p11.23p11.22p11.21p11.1q11.1q11.2q12.1q12.2q12.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q2311.4 Mb11.6 Mb11.8 Mb12 Mb12.2 MbSLC35G4: 11,609,596–11,610,612, forward strandSLC35G4GNAL: 11,689,264–11,885,685, forward strandGNALCHMP1B: 11,851,413–11,854,444, forward strandCHMP1BMPPE1: 11,882,622–11,909,180, reverse strandMPPE1IMPA2: 11,981,025–12,032,177, forward strandIMPA2ANKRD62: 12,093,729–12,129,764, forward strandANKRD62CIDEA: 12,254,165–12,277,595, forward strandCIDEADiagram of GNAL: 12 exons on the forward strand of chromosome 18Exon 5: 2 known disease-causing sitesExon 8: 1 known disease-causing siteExon 9: 2 known disease-causing sitesExon 10: 1 known disease-causing siteExon 12: 2 known disease-causing sitesExon 1: 11,689,264–11,689,939, 676 basesExon 2: 11,752,853–11,752,925, 73 basesExon 3: 11,753,628–11,753,682, 55 basesExon 4: 11,753,826–11,753,945, 120 basesExon 5: 11,824,918–11,825,015, 98 basesExon 6: 11,862,395–11,862,449, 55 basesExon 7: 11,864,533–11,864,606, 74 basesExon 8: 11,867,168–11,867,226, 59 basesExon 9: 11,868,543–11,868,663, 121 basesExon 10: 11,872,268–11,872,398, 131 basesExon 11: 11,876,621–11,876,688, 68 basesExon 12: 11,880,989–11,885,685, 4,697 bases1510125′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 6.2 kb of the gene's 196.4 kb; 1,377 of those bases code for the protein.

How a genome test reads GNAL

13

positions in GNAL 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 196.4 kb of GNAL, introns included, not only the 6.2 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.). GNAL gene: G protein subunit alpha L. Retrieved 16 October 2026, from https://dantelabs.com/genes/gnal

Vancouver

Dante Labs. GNAL gene: G protein subunit alpha L [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/gnal

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