Canonical Allele Identifier: CA259450
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 25226
dbSNP Id: rs111033739
gnomAD v2: 9-34648367-C-T
gnomAD v3: 9-34648370-C-T
gnomAD v4: 9-34648370-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648370C>T , CM000671.2:g.34648370C>T GRCh38
NC_000009.11:g.34648367C>T , CM000671.1:g.34648367C>T GRCh37
NC_000009.10:g.34638367C>T NCBI36
NG_009029.1:g.6733C>T
NG_028966.1:g.1186C>T
NG_009029.2:g.6782C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*189C>T ENSP00000509954.1:n.*189C>T
ENST00000378842.8:c.601C>T MANE Select ENSP00000368119.4:p.Arg201Cys
ENST00000378842.7:c.601C>T ENSP00000368119.3:p.Arg201Cys
ENST00000450095.6:c.274C>T ENSP00000401956.2:p.Arg92Cys
ENST00000472111.5:n.857C>T
ENST00000473506.6:c.*189C>T ENSP00000432839.2:n.*189C>T
ENST00000473529.5:n.760C>T
ENST00000485531.1:n.1195C>T
ENST00000487381.5:n.986C>T
ENST00000489643.6:n.376C>T
ENST00000554085.5:c.*345C>T ENSP00000450419.1:n.*345C>T
ENST00000554139.5:n.847C>T
ENST00000554550.5:c.*221C>T ENSP00000451435.1:n.*221C>T
ENST00000554638.5:n.1073C>T
ENST00000554897.5:c.*288C>T ENSP00000450942.1:n.*288C>T
ENST00000554944.5:n.950C>T
ENST00000555020.5:n.757C>T
ENST00000555086.5:n.605C>T
ENST00000555214.5:n.422C>T
ENST00000556244.1:c.588C>T
ENST00000556278.1:c.346C>T ENSP00000451792.1:p.Arg116Cys
ENST00000556494.5:n.722C>T
ENST00000557706.5:n.1163C>T
NM_000155.3:c.601C>T NP_000146.2:p.Arg201Cys
NM_001258332.1:c.274C>T NP_001245261.1:p.Arg92Cys
NM_000155.4:c.601C>T MANE Select NP_000146.2:p.Arg201Cys
NM_001258332.2:c.274C>T NP_001245261.1:p.Arg92Cys