Canonical Allele Identifier: CA410604051
Gene: CRYAA HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43169157A>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169157A>C , CM000683.2:g.43169157A>C GRCh38
NG_009823.1:g.5127A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.58A>C MANE Select ENSP00000291554.2:p.Ser20Arg
ENST00000482775.1:n.71A>C
NM_000394.3:c.58A>C NP_000385.1:p.Ser20Arg
XR_001755073.1:n.647+1880T>G
NM_000394.4:c.58A>C MANE Select NP_000385.1:p.Ser20Arg