Canonical Allele Identifier: CA321167909
Gene: CRYAA HGNC NCBI

Linked Data

dbSNP Id: rs532140066
gnomAD v3: 21-43169540-C-T
gnomAD v4: 21-43169540-C-T
MyVariant Identifiers: chr21:g.43169540C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169540C>T , CM000683.2:g.43169540C>T GRCh38
NG_009823.1:g.5510C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.189+252C>T MANE Select ENSP00000291554.2:n.189+252C>T
ENST00000482775.1:n.210C>T
NM_000394.3:c.189+252C>T NP_000385.1:n.189+252C>T
XR_001755073.1:n.647+1497G>A
NM_000394.4:c.189+252C>T MANE Select NP_000385.1:n.189+252C>T
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