Canonical Allele Identifier: CA410605799

Gene: CRYAA

Linked Data

• MyVariant Identifiers: chr21:g.43172105G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43172105G>C , CM000683.2:g.43172105G>C	GRCh38
NG_009823.1:g.8075G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291554.6:c.347G>C MANE Select	ENSP00000291554.2:p.Arg116Pro
ENST00000398132.1:c.236G>C	ENSP00000381200.1:p.Arg79Pro
ENST00000398133.5:c.287G>C	ENSP00000381201.1:p.Arg96Pro
ENST00000468016.1:n.448G>C
ENST00000482775.1:n.428G>C
NM_000394.3:c.347G>C	NP_000385.1:p.Arg116Pro
XM_005261093.2:c.236G>C	XP_005261150.1:p.Arg79Pro
NM_001363766.1:c.236G>C	NP_001350695.1:p.Arg79Pro
NM_000394.4:c.347G>C MANE Select	NP_000385.1:p.Arg116Pro