Canonical Allele Identifier: CA321171079
Gene: CRYAA HGNC NCBI

Linked Data

ClinVar Variation Id: 898795
ClinVar RCV Id: RCV001142886
dbSNP Id: rs369609046
MyVariant Identifiers: chr21:g.43172113C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43172113C>T , CM000683.2:g.43172113C>T GRCh38
NG_009823.1:g.8083C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.355C>T MANE Select ENSP00000291554.2:p.Arg119Cys
ENST00000398132.1:c.244C>T ENSP00000381200.1:p.Arg82Cys
ENST00000398133.5:c.295C>T ENSP00000381201.1:p.Arg99Cys
ENST00000468016.1:n.456C>T
ENST00000482775.1:n.436C>T
NM_000394.3:c.355C>T NP_000385.1:p.Arg119Cys
XM_005261093.2:c.244C>T XP_005261150.1:p.Arg82Cys
NM_001363766.1:c.244C>T NP_001350695.1:p.Arg82Cys
NM_000394.4:c.355C>T MANE Select NP_000385.1:p.Arg119Cys
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