Canonical Allele Identifier: CA1022638885
Gene: CRYAA HGNC NCBI

Linked Data

dbSNP Id: rs1985814616
gnomAD v3: 21-43172803-C-T
gnomAD v4: 21-43172803-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43172803C>T , CM000683.2:g.43172803C>T GRCh38
NG_009823.1:g.8773C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.*523C>T MANE Select ENSP00000291554.2:n.*523C>T
ENST00000482775.1:n.1126C>T
NM_000394.3:c.*523C>T NP_000385.1:n.*523C>T
XM_005261093.2:c.*523C>T XP_005261150.1:n.*523C>T
NM_001363766.1:c.*523C>T NP_001350695.1:n.*523C>T
NM_000394.4:c.*523C>T MANE Select NP_000385.1:n.*523C>T
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