Canonical Allele Identifier: CA373280093
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647555G>A , CM000671.2:g.34647555G>A GRCh38
NC_000009.11:g.34647552G>A , CM000671.1:g.34647552G>A GRCh37
NC_000009.10:g.34637552G>A NCBI36
NG_009029.1:g.5918G>A
NG_028966.1:g.371G>A
NG_009029.2:g.5967G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.316G>A ENSP00000509954.1:p.Ala106Thr
ENST00000378842.8:c.316G>A MANE Select ENSP00000368119.4:p.Ala106Thr
ENST00000378842.7:c.316G>A ENSP00000368119.3:p.Ala106Thr
ENST00000450095.6:c.51-277G>A ENSP00000401956.2:n.51-277G>A
ENST00000465543.6:n.655G>A
ENST00000472111.5:n.357G>A
ENST00000473506.6:c.267G>A ENSP00000432839.2:p.Met89Ile
ENST00000473529.5:n.363G>A
ENST00000485531.1:n.542G>A
ENST00000487381.5:n.575G>A
ENST00000489643.6:n.282+297G>A
ENST00000554085.5:c.*60G>A ENSP00000450419.1:n.*60G>A
ENST00000554139.5:n.369G>A
ENST00000554330.5:n.264G>A
ENST00000554550.5:c.253-277G>A ENSP00000451435.1:n.253-277G>A
ENST00000554638.5:n.573G>A
ENST00000554897.5:c.253-277G>A ENSP00000450942.1:n.253-277G>A
ENST00000554944.5:n.297G>A
ENST00000555020.5:n.346G>A
ENST00000555086.5:n.320G>A
ENST00000555214.5:n.261+297G>A
ENST00000556157.1:n.440G>A
ENST00000556244.1:c.303G>A
ENST00000556278.1:c.252+297G>A ENSP00000451792.1:n.252+297G>A
ENST00000556403.5:n.329G>A
ENST00000556494.5:n.348G>A
ENST00000557541.5:n.460G>A
ENST00000557706.5:n.663G>A
NM_000155.3:c.316G>A NP_000146.2:p.Ala106Thr
NM_001258332.1:c.51-277G>A NP_001245261.1:n.51-277G>A
NM_000155.4:c.316G>A MANE Select NP_000146.2:p.Ala106Thr
NM_001258332.2:c.51-277G>A NP_001245261.1:n.51-277G>A