Canonical Allele Identifier: CA410604611
Gene: CRYAA HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43169271G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43169271G>A , CM000683.2:g.43169271G>A GRCh38
NG_009823.1:g.5241G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.172G>A MANE Select ENSP00000291554.2:p.Asp58Asn
ENST00000482775.1:n.185G>A
NM_000394.3:c.172G>A NP_000385.1:p.Asp58Asn
XR_001755073.1:n.647+1766C>T
NM_000394.4:c.172G>A MANE Select NP_000385.1:p.Asp58Asn