Canonical Allele Identifier: CA410605824

Gene: CRYAA

Linked Data

• MyVariant Identifiers: chr21:g.43172120C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43172120C>A , CM000683.2:g.43172120C>A	GRCh38
NG_009823.1:g.8090C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291554.6:c.362C>A MANE Select	ENSP00000291554.2:p.Pro121Gln
ENST00000398132.1:c.251C>A	ENSP00000381200.1:p.Pro84Gln
ENST00000398133.5:c.302C>A	ENSP00000381201.1:p.Pro101Gln
ENST00000468016.1:n.463C>A
ENST00000482775.1:n.443C>A
NM_000394.3:c.362C>A	NP_000385.1:p.Pro121Gln
XM_005261093.2:c.251C>A	XP_005261150.1:p.Pro84Gln
NM_001363766.1:c.251C>A	NP_001350695.1:p.Pro84Gln
NM_000394.4:c.362C>A MANE Select	NP_000385.1:p.Pro121Gln