Canonical Allele Identifier: CA2391130854
Gene: CRYAA HGNC NCBI

Linked Data

dbSNP Id: rs1601436826
gnomAD v4: 21-43169531-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169531A>G , CM000683.2:g.43169531A>G GRCh38
NG_009823.1:g.5501A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.189+243A>G MANE Select ENSP00000291554.2:n.189+243A>G
ENST00000482775.1:n.203-2A>G
NM_000394.3:c.189+243A>G NP_000385.1:n.189+243A>G
XR_001755073.1:n.647+1506T>C
NM_000394.4:c.189+243A>G MANE Select NP_000385.1:n.189+243A>G
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