Canonical Allele Identifier: CA321167676
Gene: CRYAA HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43169287A>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169287A>T , CM000683.2:g.43169287A>T GRCh38
NG_009823.1:g.5257A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.188A>T MANE Select ENSP00000291554.2:p.Glu63Val
ENST00000482775.1:n.201A>T
NM_000394.3:c.188A>T NP_000385.1:p.Glu63Val
XR_001755073.1:n.647+1750T>A
NM_000394.4:c.188A>T MANE Select NP_000385.1:p.Glu63Val