Canonical Allele Identifier: CA410604639
Gene: CRYAA HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43169283T>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169283T>G , CM000683.2:g.43169283T>G GRCh38
NG_009823.1:g.5253T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.184T>G MANE Select ENSP00000291554.2:p.Ser62Ala
ENST00000482775.1:n.197T>G
NM_000394.3:c.184T>G NP_000385.1:p.Ser62Ala
XR_001755073.1:n.647+1754A>C
NM_000394.4:c.184T>G MANE Select NP_000385.1:p.Ser62Ala