Canonical Allele Identifier: CA410605816

Gene: CRYAA

Linked Data

• MyVariant Identifiers: chr21:g.43172116C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43172116C>A , CM000683.2:g.43172116C>A	GRCh38
NG_009823.1:g.8086C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291554.6:c.358C>A MANE Select	ENSP00000291554.2:p.Leu120Met
ENST00000398132.1:c.247C>A	ENSP00000381200.1:p.Leu83Met
ENST00000398133.5:c.298C>A	ENSP00000381201.1:p.Leu100Met
ENST00000468016.1:n.459C>A
ENST00000482775.1:n.439C>A
NM_000394.3:c.358C>A	NP_000385.1:p.Leu120Met
XM_005261093.2:c.247C>A	XP_005261150.1:p.Leu83Met
NM_001363766.1:c.247C>A	NP_001350695.1:p.Leu83Met
NM_000394.4:c.358C>A MANE Select	NP_000385.1:p.Leu120Met