Canonical Allele Identifier: CA410605820

Gene: CRYAA

Linked Data

• MyVariant Identifiers: chr21:g.43172117T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43172117T>C , CM000683.2:g.43172117T>C	GRCh38
NG_009823.1:g.8087T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291554.6:c.359T>C MANE Select	ENSP00000291554.2:p.Leu120Pro
ENST00000398132.1:c.248T>C	ENSP00000381200.1:p.Leu83Pro
ENST00000398133.5:c.299T>C	ENSP00000381201.1:p.Leu100Pro
ENST00000468016.1:n.460T>C
ENST00000482775.1:n.440T>C
NM_000394.3:c.359T>C	NP_000385.1:p.Leu120Pro
XM_005261093.2:c.248T>C	XP_005261150.1:p.Leu83Pro
NM_001363766.1:c.248T>C	NP_001350695.1:p.Leu83Pro
NM_000394.4:c.359T>C MANE Select	NP_000385.1:p.Leu120Pro