Canonical Allele Identifier: CA381632886
Gene: GAL HGNC NCBI

Linked Data

COSMIC: COSM690282

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68685631G>T , CM000673.2:g.68685631G>T GRCh38
NC_000011.9:g.68453099G>T , CM000673.1:g.68453099G>T GRCh37
NC_000011.8:g.68209675G>T NCBI36
NG_052785.1:g.6157G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265643.4:c.119G>T MANE Select ENSP00000265643.3:p.Gly40Val
ENST00000265643.3:c.119G>T ENSP00000265643.3:p.Gly40Val
NM_015973.3:c.119G>T NP_057057.2:p.Gly40Val
NM_015973.4:c.119G>T NP_057057.2:p.Gly40Val
XR_001748281.1:n.230+2210C>A
NM_015973.5:c.119G>T MANE Select NP_057057.2:p.Gly40Val