Canonical Allele Identifier: CA410605803

Gene: CRYAA

Linked Data

• MyVariant Identifiers: chr21:g.43172108G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43172108G>T , CM000683.2:g.43172108G>T	GRCh38
NG_009823.1:g.8078G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291554.6:c.350G>T MANE Select	ENSP00000291554.2:p.Arg117Leu
ENST00000398132.1:c.239G>T	ENSP00000381200.1:p.Arg80Leu
ENST00000398133.5:c.290G>T	ENSP00000381201.1:p.Arg97Leu
ENST00000468016.1:n.451G>T
ENST00000482775.1:n.431G>T
NM_000394.3:c.350G>T	NP_000385.1:p.Arg117Leu
XM_005261093.2:c.239G>T	XP_005261150.1:p.Arg80Leu
NM_001363766.1:c.239G>T	NP_001350695.1:p.Arg80Leu
NM_000394.4:c.350G>T MANE Select	NP_000385.1:p.Arg117Leu