Canonical Allele Identifier: CA373278192
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34646716T>A , CM000671.2:g.34646716T>A GRCh38
NC_000009.11:g.34646713T>A , CM000671.1:g.34646713T>A GRCh37
NC_000009.10:g.34636713T>A NCBI36
NG_009029.1:g.5079T>A
NG_009029.2:g.5128T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.12T>A ENSP00000509954.1:p.Ser4Arg
ENST00000378842.8:c.12T>A MANE Select ENSP00000368119.4:p.Ser4Arg
ENST00000378842.7:c.12T>A ENSP00000368119.3:p.Ser4Arg
ENST00000450095.6:c.-191T>A ENSP00000401956.2:n.-191T>A
ENST00000465543.6:n.49T>A
ENST00000468099.2:n.84T>A
ENST00000472111.5:n.53T>A
ENST00000473506.6:c.12T>A ENSP00000432839.2:p.Ser4Arg
ENST00000473529.5:n.59T>A
ENST00000487381.5:n.38T>A
ENST00000489643.6:n.42T>A
ENST00000554085.5:c.12T>A ENSP00000450419.1:p.Ser4Arg
ENST00000554139.5:n.65T>A
ENST00000554550.5:c.12T>A ENSP00000451435.1:p.Ser4Arg
ENST00000554638.5:n.36T>A
ENST00000554897.5:c.12T>A ENSP00000450942.1:p.Ser4Arg
ENST00000554944.5:n.42T>A
ENST00000555020.5:n.42T>A
ENST00000555214.5:n.21T>A
ENST00000556278.1:c.12T>A ENSP00000451792.1:p.Ser4Arg
ENST00000557541.5:n.72T>A
ENST00000605275.1:n.248T>A
NM_000155.3:c.12T>A NP_000146.2:p.Ser4Arg
NM_001258332.1:c.-191T>A NP_001245261.1:n.-191T>A
NM_000155.4:c.12T>A MANE Select NP_000146.2:p.Ser4Arg
NM_001258332.2:c.-191T>A NP_001245261.1:n.-191T>A