Canonical Allele Identifier: CA410605806
Gene: CRYAA HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43172110T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43172110T>C , CM000683.2:g.43172110T>C GRCh38
NG_009823.1:g.8080T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.352T>C MANE Select ENSP00000291554.2:p.Tyr118His
ENST00000398132.1:c.241T>C ENSP00000381200.1:p.Tyr81His
ENST00000398133.5:c.292T>C ENSP00000381201.1:p.Tyr98His
ENST00000468016.1:n.453T>C
ENST00000482775.1:n.433T>C
NM_000394.3:c.352T>C NP_000385.1:p.Tyr118His
XM_005261093.2:c.241T>C XP_005261150.1:p.Tyr81His
NM_001363766.1:c.241T>C NP_001350695.1:p.Tyr81His
NM_000394.4:c.352T>C MANE Select NP_000385.1:p.Tyr118His