Canonical Allele Identifier: CA321167774
Gene: CRYAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1189748
ClinVar RCV Id: RCV001550224
dbSNP Id: rs56975193
gnomAD v3: 21-43169321-C-T
gnomAD v4: 21-43169321-C-T
MyVariant Identifiers: chr21:g.43169321C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169321C>T , CM000683.2:g.43169321C>T GRCh38
NG_009823.1:g.5291C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.189+33C>T MANE Select ENSP00000291554.2:n.189+33C>T
ENST00000482775.1:n.202+33C>T
NM_000394.3:c.189+33C>T NP_000385.1:n.189+33C>T
XR_001755073.1:n.647+1716G>A
NM_000394.4:c.189+33C>T MANE Select NP_000385.1:n.189+33C>T
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