Canonical Allele Identifier: CA373280155
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647563T>A , CM000671.2:g.34647563T>A GRCh38
NC_000009.11:g.34647560T>A , CM000671.1:g.34647560T>A GRCh37
NC_000009.10:g.34637560T>A NCBI36
NG_009029.1:g.5926T>A
NG_028966.1:g.379T>A
NG_009029.2:g.5975T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.324T>A ENSP00000509954.1:p.Ser108Arg
ENST00000378842.8:c.324T>A MANE Select ENSP00000368119.4:p.Ser108Arg
ENST00000378842.7:c.324T>A ENSP00000368119.3:p.Ser108Arg
ENST00000450095.6:c.51-269T>A ENSP00000401956.2:n.51-269T>A
ENST00000465543.6:n.663T>A
ENST00000472111.5:n.365T>A
ENST00000473506.6:c.275T>A ENSP00000432839.2:p.Val92Asp
ENST00000473529.5:n.371T>A
ENST00000485531.1:n.550T>A
ENST00000487381.5:n.583T>A
ENST00000489643.6:n.282+305T>A
ENST00000554085.5:c.*68T>A ENSP00000450419.1:n.*68T>A
ENST00000554139.5:n.377T>A
ENST00000554330.5:n.272T>A
ENST00000554550.5:c.253-269T>A ENSP00000451435.1:n.253-269T>A
ENST00000554638.5:n.581T>A
ENST00000554897.5:c.253-269T>A ENSP00000450942.1:n.253-269T>A
ENST00000554944.5:n.305T>A
ENST00000555020.5:n.354T>A
ENST00000555086.5:n.328T>A
ENST00000555214.5:n.261+305T>A
ENST00000556157.1:n.448T>A
ENST00000556244.1:c.311T>A
ENST00000556278.1:c.252+305T>A ENSP00000451792.1:n.252+305T>A
ENST00000556403.5:n.337T>A
ENST00000556494.5:n.356T>A
ENST00000557541.5:n.468T>A
ENST00000557706.5:n.671T>A
NM_000155.3:c.324T>A NP_000146.2:p.Ser108Arg
NM_001258332.1:c.51-269T>A NP_001245261.1:n.51-269T>A
NM_000155.4:c.324T>A MANE Select NP_000146.2:p.Ser108Arg
NM_001258332.2:c.51-269T>A NP_001245261.1:n.51-269T>A