Canonical Allele Identifier: CA6151398
Gene: GAL HGNC NCBI
ClinVar RCV:
RCV001054680
ClinVar Variation:
850500
COSMIC:
COSM6401309
dbSNP:
760551954
gnomAD v2:
11:68452407 G / A
gnomAD v4:
chr11-68684939-G-A
Joint Max Group AF 0.00000554 (AMR)
Exomes Max Group AF 0.00000744 (AMR)
MyVariant.info:
GRCh38 chr11:g.68684939G>A
GRCh37 chr11:g.68452407G>A
Revel Score:
ENST00000265643 (MANE Select) 0.061
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'