Canonical Allele Identifier: CA410604590
Gene: CRYAA HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43169266T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169266T>C , CM000683.2:g.43169266T>C GRCh38
NG_009823.1:g.5236T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.167T>C MANE Select ENSP00000291554.2:p.Val56Ala
ENST00000482775.1:n.180T>C
NM_000394.3:c.167T>C NP_000385.1:p.Val56Ala
XR_001755073.1:n.647+1771A>G
NM_000394.4:c.167T>C MANE Select NP_000385.1:p.Val56Ala