Canonical Allele Identifier: CA410605813

Gene: CRYAA

Linked Data

• MyVariant Identifiers: chr21:g.43172113C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43172113C>G , CM000683.2:g.43172113C>G	GRCh38
NG_009823.1:g.8083C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291554.6:c.355C>G MANE Select	ENSP00000291554.2:p.Arg119Gly
ENST00000398132.1:c.244C>G	ENSP00000381200.1:p.Arg82Gly
ENST00000398133.5:c.295C>G	ENSP00000381201.1:p.Arg99Gly
ENST00000468016.1:n.456C>G
ENST00000482775.1:n.436C>G
NM_000394.3:c.355C>G	NP_000385.1:p.Arg119Gly
XM_005261093.2:c.244C>G	XP_005261150.1:p.Arg82Gly
NM_001363766.1:c.244C>G	NP_001350695.1:p.Arg82Gly
NM_000394.4:c.355C>G MANE Select	NP_000385.1:p.Arg119Gly