Canonical Allele Identifier: CA410605815
Gene: CRYAA HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43172114G>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43172114G>T , CM000683.2:g.43172114G>T GRCh38
NG_009823.1:g.8084G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.356G>T MANE Select ENSP00000291554.2:p.Arg119Leu
ENST00000398132.1:c.245G>T ENSP00000381200.1:p.Arg82Leu
ENST00000398133.5:c.296G>T ENSP00000381201.1:p.Arg99Leu
ENST00000468016.1:n.457G>T
ENST00000482775.1:n.437G>T
NM_000394.3:c.356G>T NP_000385.1:p.Arg119Leu
XM_005261093.2:c.245G>T XP_005261150.1:p.Arg82Leu
NM_001363766.1:c.245G>T NP_001350695.1:p.Arg82Leu
NM_000394.4:c.356G>T MANE Select NP_000385.1:p.Arg119Leu