Canonical Allele Identifier: CA2391131619
Gene: CRYAA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43172115C= , CM000683.2:g.43172115C= GRCh38
NG_009823.1:g.8085C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.357C= MANE Select ENSP00000291554.2:p.Arg119=
ENST00000398132.1:c.246C= ENSP00000381200.1:p.Arg82=
ENST00000398133.5:c.297C= ENSP00000381201.1:p.Arg99=
ENST00000468016.1:n.458C=
ENST00000482775.1:n.438C=
NM_000394.3:c.357C= NP_000385.1:p.Arg119=
XM_005261093.2:c.246C= XP_005261150.1:p.Arg82=
NM_001363766.1:c.246C= NP_001350695.1:p.Arg82=
NM_000394.4:c.357C= MANE Select NP_000385.1:p.Arg119=