Canonical Allele Identifier: CA259335
Gene: GALT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 25135
ClinVar RCV Id: RCV000022065
dbSNP Id: rs111033656

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647203C>A , CM000671.2:g.34647203C>A GRCh38
NC_000009.10:g.34637200C>A NCBI36
NC_000009.11:g.34647200C>A , CM000671.1:g.34647200C>A GRCh37
NG_009029.1:g.5566C>A
NG_028966.1:g.19C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378842.7:c.197C>A ENSP00000368119.3:p.Pro66His
ENST00000450095.6:c.-6C>A ENSP00000401956.2:p.=
ENST00000465543.6:n.536C>A
ENST00000468099.2:n.237C>A
ENST00000472111.5:n.238C>A
ENST00000473506.6:c.197C>A ENSP00000432839.2:p.Pro66His
ENST00000473529.5:n.244C>A
ENST00000485531.1:n.190C>A
ENST00000487381.5:n.223C>A
ENST00000489643.6:n.227C>A
ENST00000554085.5:c.197C>A ENSP00000450419.1:p.Pro66His
ENST00000554139.5:n.250C>A
ENST00000554330.5:n.194C>A
ENST00000554550.5:c.197C>A ENSP00000451435.1:p.Pro66His
ENST00000554638.5:n.221C>A
ENST00000554897.5:c.197C>A ENSP00000450942.1:p.Pro66His
ENST00000554944.5:n.227C>A
ENST00000555020.5:n.227C>A
ENST00000555086.5:n.201C>A
ENST00000555214.5:n.206C>A
ENST00000556157.1:n.304C>A
ENST00000556244.1:n.81C>A
ENST00000556278.1:c.197C>A ENSP00000451792.1:p.Pro66His
ENST00000556403.5:n.210C>A
ENST00000556494.5:n.229C>A
ENST00000557541.5:n.390C>A
ENST00000557706.5:n.311C>A
NM_000155.3:c.197C>A NP_000146.2:p.Pro66His
NM_001258332.1:c.-6C>A NP_001245261.1:p.=