Canonical Allele Identifier: CA6151398

Gene: GAL

Linked Data

• ClinVar Variation Id: 850500
• ClinVar RCV Id: RCV001054680
• dbSNP Id: rs760551954
• ExAC: 11:68452407 G / A
• gnomAD v2: 11-68452407-G-A
• gnomAD v4: 11-68684939-G-A
• COSMIC: COSM6401309
• MyVariant Identifiers: chr11:g.68452407G>A (hg19) ; chr11:g.68684939G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68684939G>A , CM000673.2:g.68684939G>A	GRCh38
NC_000011.9:g.68452407G>A , CM000673.1:g.68452407G>A	GRCh37
NC_000011.8:g.68208983G>A	NCBI36
NG_052785.1:g.5465G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265643.4:c.16G>A MANE Select	ENSP00000265643.3:p.Ala6Thr
ENST00000265643.3:c.16G>A	ENSP00000265643.3:p.Ala6Thr
NM_015973.3:c.16G>A	NP_057057.2:p.Ala6Thr
NM_015973.4:c.16G>A	NP_057057.2:p.Ala6Thr
XR_001748281.1:n.230+2902C>T
NM_015973.5:c.16G>A MANE Select	NP_057057.2:p.Ala6Thr