Canonical Allele Identifier: CA410604626
Gene: CRYAA HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43169277G>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169277G>T , CM000683.2:g.43169277G>T GRCh38
NG_009823.1:g.5247G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.178G>T MANE Select ENSP00000291554.2:p.Gly60Cys
ENST00000482775.1:n.191G>T
NM_000394.3:c.178G>T NP_000385.1:p.Gly60Cys
XR_001755073.1:n.647+1760C>A
NM_000394.4:c.178G>T MANE Select NP_000385.1:p.Gly60Cys