Canonical Allele Identifier: CA321170749
Gene: CRYAA HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43172008G>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43172008G>T , CM000683.2:g.43172008G>T GRCh38
NG_009823.1:g.7978G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.313-63G>T MANE Select ENSP00000291554.2:n.313-63G>T
ENST00000398132.1:c.202-63G>T ENSP00000381200.1:n.202-63G>T
ENST00000398133.5:c.253-63G>T ENSP00000381201.1:n.253-63G>T
ENST00000468016.1:n.414-63G>T
ENST00000482775.1:n.394-63G>T
NM_000394.3:c.313-63G>T NP_000385.1:n.313-63G>T
XM_005261093.2:c.202-63G>T XP_005261150.1:n.202-63G>T
NM_001363766.1:c.202-63G>T NP_001350695.1:n.202-63G>T
NM_000394.4:c.313-63G>T MANE Select NP_000385.1:n.313-63G>T