Canonical Allele Identifier: CA373280328
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647671C>A , CM000671.2:g.34647671C>A GRCh38
NC_000009.11:g.34647668C>A , CM000671.1:g.34647668C>A GRCh37
NC_000009.10:g.34637668C>A NCBI36
NG_009029.1:g.6034C>A
NG_028966.1:g.487C>A
NG_009029.2:g.6083C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.328+104C>A ENSP00000509954.1:n.328+104C>A
ENST00000378842.8:c.343C>A MANE Select ENSP00000368119.4:p.Pro115Thr
ENST00000378842.7:c.343C>A ENSP00000368119.3:p.Pro115Thr
ENST00000450095.6:c.51-161C>A ENSP00000401956.2:n.51-161C>A
ENST00000465543.6:n.682C>A
ENST00000472111.5:n.473C>A
ENST00000473506.6:c.294C>A ENSP00000432839.2:p.Ile98=
ENST00000473529.5:n.479C>A
ENST00000485531.1:n.658C>A
ENST00000487381.5:n.602C>A
ENST00000489643.6:n.282+413C>A
ENST00000554085.5:c.*87C>A ENSP00000450419.1:n.*87C>A
ENST00000554139.5:n.396C>A
ENST00000554330.5:n.380C>A
ENST00000554550.5:c.253-161C>A ENSP00000451435.1:n.253-161C>A
ENST00000554638.5:n.689C>A
ENST00000554897.5:c.253-161C>A ENSP00000450942.1:n.253-161C>A
ENST00000554944.5:n.413C>A
ENST00000555020.5:n.373C>A
ENST00000555086.5:n.347C>A
ENST00000555214.5:n.262-377C>A
ENST00000556157.1:n.467C>A
ENST00000556244.1:c.330C>A
ENST00000556278.1:c.252+413C>A ENSP00000451792.1:n.252+413C>A
ENST00000556403.5:n.445C>A
ENST00000556494.5:n.464C>A
ENST00000557541.5:n.487C>A
ENST00000557706.5:n.779C>A
NM_000155.3:c.343C>A NP_000146.2:p.Pro115Thr
NM_001258332.1:c.51-161C>A NP_001245261.1:n.51-161C>A
NM_000155.4:c.343C>A MANE Select NP_000146.2:p.Pro115Thr
NM_001258332.2:c.51-161C>A NP_001245261.1:n.51-161C>A