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Gene

CRYAA

crystallin alpha A

Summary

Cytogenetic location
21q22.3
Coordinates
Chromosome 21: 43,169,008–43,172,805 (GRCh38)
Exons
3 exons across 3.8 kb
Protein
173 amino acids
Also known as
HSPB4
Previous symbols
CRYA1
MANE Select transcript
ENST00000291554.6NM_000394.4
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 reports relevant to this gene

No Genome Test report reads CRYAA yet. The test sequences your whole genome, so your data includes it all the same.

How CRYAA is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 21, with a bracket where CRYAA sits. CRYAA and 11 genes near it on chromosome 21, from 42,670,907 to 43,670,906.Chromosome 2121q22.3p13p12p11.2p11.1q11.1q11.2q21.1q21.2q21.3q22.11q22.12q22.13q22.2q22.342.8 Mb43 Mb43.2 Mb43.4 Mb43.6 MbPDE9A: 42,653,584–42,776,512, forward strandPDE9AWDR4: 42,843,013–42,879,583, reverse strandWDR4NDUFV3: 42,879,644–42,913,304, forward strandNDUFV3ERVH48-1: 42,916,803–42,925,630, reverse strandERVH48-1PKNOX1: 42,974,328–43,034,494, forward strandPKNOX1CBS: 43,050,900–43,076,943, reverse strandCBSU2AF1: 43,092,956–43,107,605, reverse strandU2AF1CRYAA: 43,169,008–43,172,805, forward strandCRYAASIK1: 43,414,483–43,427,137, reverse strandSIK1HSF2BP: 43,529,186–43,659,524, reverse strandHSF2BPH2BC12L: 43,565,182–43,565,648, forward strandH2BC12LRRP1B: 43,659,542–43,696,080, forward strandRRP1BDiagram of CRYAA: 3 exons on the forward strand of chromosome 21Exon 1: 5 known disease-causing sitesExon 2: 1 known disease-causing siteExon 3: 3 known disease-causing sitesExon 1: 43,169,008–43,169,288, 281 basesExon 2: 43,170,517–43,170,639, 123 basesExon 3: 43,172,071–43,172,805, 735 bases1235′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 1.1 kb of the gene's 3.8 kb; 522 of those bases code for the protein.

How a genome test reads CRYAA

9

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

9 of them (100%) fall in regions short reads find hard.

  • Low mappability (9 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (9 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 3.8 kb of CRYAA, introns included, not only the 1.1 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.
  • 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.). CRYAA gene: crystallin alpha A. Retrieved 16 October 2026, from https://dantelabs.com/genes/cryaa

Vancouver

Dante Labs. CRYAA gene: crystallin alpha A [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cryaa

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