Canonical Allele Identifier: CA373280437
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647699G>A , CM000671.2:g.34647699G>A GRCh38
NC_000009.11:g.34647696G>A , CM000671.1:g.34647696G>A GRCh37
NC_000009.10:g.34637696G>A NCBI36
NG_009029.1:g.6062G>A
NG_028966.1:g.515G>A
NG_009029.2:g.6111G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.329-133G>A ENSP00000509954.1:n.329-133G>A
ENST00000378842.8:c.371G>A MANE Select ENSP00000368119.4:p.Gly124Glu
ENST00000378842.7:c.371G>A ENSP00000368119.3:p.Gly124Glu
ENST00000450095.6:c.51-133G>A ENSP00000401956.2:n.51-133G>A
ENST00000465543.6:n.710G>A
ENST00000472111.5:n.501G>A
ENST00000473506.6:c.322G>A ENSP00000432839.2:p.Glu108Lys
ENST00000473529.5:n.507G>A
ENST00000485531.1:n.686G>A
ENST00000487381.5:n.630G>A
ENST00000489643.6:n.283-416G>A
ENST00000554085.5:c.*115G>A ENSP00000450419.1:n.*115G>A
ENST00000554139.5:n.424G>A
ENST00000554330.5:n.408G>A
ENST00000554550.5:c.253-133G>A ENSP00000451435.1:n.253-133G>A
ENST00000554638.5:n.717G>A
ENST00000554897.5:c.253-133G>A ENSP00000450942.1:n.253-133G>A
ENST00000554944.5:n.441G>A
ENST00000555020.5:n.401G>A
ENST00000555086.5:n.375G>A
ENST00000555214.5:n.262-349G>A
ENST00000556157.1:n.495G>A
ENST00000556244.1:c.358G>A
ENST00000556278.1:c.253-416G>A ENSP00000451792.1:n.253-416G>A
ENST00000556403.5:n.473G>A
ENST00000556494.5:n.492G>A
ENST00000557541.5:n.515G>A
ENST00000557706.5:n.807G>A
NM_000155.3:c.371G>A NP_000146.2:p.Gly124Glu
NM_001258332.1:c.51-133G>A NP_001245261.1:n.51-133G>A
NM_000155.4:c.371G>A MANE Select NP_000146.2:p.Gly124Glu
NM_001258332.2:c.51-133G>A NP_001245261.1:n.51-133G>A