Canonical Allele Identifier: CA321167670
Gene: CRYAA HGNC NCBI

Linked Data

dbSNP Id: rs769072627
MyVariant Identifiers: chr21:g.43169280A>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169280A>G , CM000683.2:g.43169280A>G GRCh38
NG_009823.1:g.5250A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.181A>G MANE Select ENSP00000291554.2:p.Ile61Val
ENST00000482775.1:n.194A>G
NM_000394.3:c.181A>G NP_000385.1:p.Ile61Val
XR_001755073.1:n.647+1757T>C
NM_000394.4:c.181A>G MANE Select NP_000385.1:p.Ile61Val