Canonical Allele Identifier: CA410605821

Gene: CRYAA

Linked Data

• MyVariant Identifiers: chr21:g.43172119C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43172119C>G , CM000683.2:g.43172119C>G	GRCh38
NG_009823.1:g.8089C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291554.6:c.361C>G MANE Select	ENSP00000291554.2:p.Pro121Ala
ENST00000398132.1:c.250C>G	ENSP00000381200.1:p.Pro84Ala
ENST00000398133.5:c.301C>G	ENSP00000381201.1:p.Pro101Ala
ENST00000468016.1:n.462C>G
ENST00000482775.1:n.442C>G
NM_000394.3:c.361C>G	NP_000385.1:p.Pro121Ala
XM_005261093.2:c.250C>G	XP_005261150.1:p.Pro84Ala
NM_001363766.1:c.250C>G	NP_001350695.1:p.Pro84Ala
NM_000394.4:c.361C>G MANE Select	NP_000385.1:p.Pro121Ala