Canonical Allele Identifier: CA1022637967
Gene: CRYAA HGNC NCBI

Linked Data

gnomAD v3: 21-43169017-T-C
gnomAD v4: 21-43169017-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169017T>C , CM000683.2:g.43169017T>C GRCh38
NG_009823.1:g.4987T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.-83T>C MANE Select ENSP00000291554.2:n.-83T>C
NM_000394.3:c.-83T>C NP_000385.1:n.-83T>C
XR_001755073.1:n.647+2020A>G
NM_000394.4:c.-83T>C MANE Select NP_000385.1:n.-83T>C
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