Canonical Allele Identifier: CA259468
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033747

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648427G>A , CM000671.2:g.34648427G>A GRCh38
NC_000009.11:g.34648424G>A , CM000671.1:g.34648424G>A GRCh37
NC_000009.10:g.34638424G>A NCBI36
NG_009029.1:g.6790G>A
NG_028966.1:g.1243G>A
NG_009029.2:g.6839G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*246G>A ENSP00000509954.1:n.*246G>A
ENST00000378842.8:c.658G>A MANE Select ENSP00000368119.4:p.Glu220Lys
ENST00000378842.7:c.658G>A ENSP00000368119.3:p.Glu220Lys
ENST00000450095.6:c.331G>A ENSP00000401956.2:p.Glu111Lys
ENST00000472111.5:n.914G>A
ENST00000473506.6:c.*246G>A ENSP00000432839.2:n.*246G>A
ENST00000473529.5:n.817G>A
ENST00000487381.5:n.1043G>A
ENST00000489643.6:n.433G>A
ENST00000554085.5:c.*402G>A ENSP00000450419.1:n.*402G>A
ENST00000554550.5:c.*278G>A ENSP00000451435.1:n.*278G>A
ENST00000554638.5:n.1130G>A
ENST00000555020.5:n.814G>A
ENST00000555086.5:n.662G>A
ENST00000555214.5:n.479G>A
ENST00000555754.1:n.3G>A
ENST00000556244.1:c.645G>A
ENST00000556278.1:c.403G>A ENSP00000451792.1:p.Glu135Lys
ENST00000556494.5:n.779G>A
ENST00000557706.5:n.1220G>A
NM_000155.3:c.658G>A NP_000146.2:p.Glu220Lys
NM_001258332.1:c.331G>A NP_001245261.1:p.Glu111Lys
NM_000155.4:c.658G>A MANE Select NP_000146.2:p.Glu220Lys
NM_001258332.2:c.331G>A NP_001245261.1:p.Glu111Lys