Canonical Allele Identifier: CA373280098
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.316G>T ENSP00000509954.1:p.Ala106Ser
ENST00000378842.8:c.316G>T MANE Select ENSP00000368119.4:p.Ala106Ser
ENST00000378842.7:c.316G>T ENSP00000368119.3:p.Ala106Ser
ENST00000450095.6:c.51-277G>T ENSP00000401956.2:n.51-277G>T
ENST00000465543.6:n.655G>T
ENST00000472111.5:n.357G>T
ENST00000473506.6:c.267G>T ENSP00000432839.2:p.Met89Ile
ENST00000473529.5:n.363G>T
ENST00000485531.1:n.542G>T
ENST00000487381.5:n.575G>T
ENST00000489643.6:n.282+297G>T
ENST00000554085.5:c.*60G>T ENSP00000450419.1:n.*60G>T
ENST00000554139.5:n.369G>T
ENST00000554330.5:n.264G>T
ENST00000554550.5:c.253-277G>T ENSP00000451435.1:n.253-277G>T
ENST00000554638.5:n.573G>T
ENST00000554897.5:c.253-277G>T ENSP00000450942.1:n.253-277G>T
ENST00000554944.5:n.297G>T
ENST00000555020.5:n.346G>T
ENST00000555086.5:n.320G>T
ENST00000555214.5:n.261+297G>T
ENST00000556157.1:n.440G>T
ENST00000556244.1:c.303G>T
ENST00000556278.1:c.252+297G>T ENSP00000451792.1:n.252+297G>T
ENST00000556403.5:n.329G>T
ENST00000556494.5:n.348G>T
ENST00000557541.5:n.460G>T
ENST00000557706.5:n.663G>T
NM_000155.3:c.316G>T NP_000146.2:p.Ala106Ser
NM_001258332.1:c.51-277G>T NP_001245261.1:n.51-277G>T
NM_000155.4:c.316G>T MANE Select NP_000146.2:p.Ala106Ser
NM_001258332.2:c.51-277G>T NP_001245261.1:n.51-277G>T