Canonical Allele Identifier: CA259452
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 25228
dbSNP Id: rs111033737
gnomAD v2: 9-34648376-C-T
gnomAD v3: 9-34648379-C-T
gnomAD v4: 9-34648379-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648379C>T , CM000671.2:g.34648379C>T GRCh38
NC_000009.11:g.34648376C>T , CM000671.1:g.34648376C>T GRCh37
NC_000009.10:g.34638376C>T NCBI36
NG_009029.1:g.6742C>T
NG_028966.1:g.1195C>T
NG_009029.2:g.6791C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*198C>T ENSP00000509954.1:n.*198C>T
ENST00000378842.8:c.610C>T MANE Select ENSP00000368119.4:p.Arg204Ter
ENST00000378842.7:c.610C>T ENSP00000368119.3:p.Arg204Ter
ENST00000450095.6:c.283C>T ENSP00000401956.2:p.Arg95Ter
ENST00000472111.5:n.866C>T
ENST00000473506.6:c.*198C>T ENSP00000432839.2:n.*198C>T
ENST00000473529.5:n.769C>T
ENST00000487381.5:n.995C>T
ENST00000489643.6:n.385C>T
ENST00000554085.5:c.*354C>T ENSP00000450419.1:n.*354C>T
ENST00000554139.5:n.856C>T
ENST00000554550.5:c.*230C>T ENSP00000451435.1:n.*230C>T
ENST00000554638.5:n.1082C>T
ENST00000554944.5:n.959C>T
ENST00000555020.5:n.766C>T
ENST00000555086.5:n.614C>T
ENST00000555214.5:n.431C>T
ENST00000556244.1:c.597C>T
ENST00000556278.1:c.355C>T ENSP00000451792.1:p.Arg119Ter
ENST00000556494.5:n.731C>T
ENST00000557706.5:n.1172C>T
NM_000155.3:c.610C>T NP_000146.2:p.Arg204Ter
NM_001258332.1:c.283C>T NP_001245261.1:p.Arg95Ter
NM_000155.4:c.610C>T MANE Select NP_000146.2:p.Arg204Ter
NM_001258332.2:c.283C>T NP_001245261.1:p.Arg95Ter