Canonical Allele Identifier: CA1845638538
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648335T= , CM000671.2:g.34648335T= GRCh38
NC_000009.11:g.34648332T= , CM000671.1:g.34648332T= GRCh37
NC_000009.10:g.34638332T= NCBI36
NG_009029.1:g.6698T=
NG_028966.1:g.1151T=
NG_009029.2:g.6747T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*154T= ENSP00000509954.1:n.*154T=
ENST00000378842.8:c.566T= MANE Select ENSP00000368119.4:p.Val189=
ENST00000378842.7:c.566T= ENSP00000368119.3:p.Val189=
ENST00000450095.6:c.239T= ENSP00000401956.2:p.Val80=
ENST00000472111.5:n.822T=
ENST00000473506.6:c.*154T= ENSP00000432839.2:n.*154T=
ENST00000473529.5:n.725T=
ENST00000485531.1:n.1160T=
ENST00000487381.5:n.951T=
ENST00000489643.6:n.341T=
ENST00000554085.5:c.*310T= ENSP00000450419.1:n.*310T=
ENST00000554139.5:n.812T=
ENST00000554550.5:c.*186T= ENSP00000451435.1:n.*186T=
ENST00000554638.5:n.1038T=
ENST00000554897.5:c.*253T= ENSP00000450942.1:n.*253T=
ENST00000554944.5:n.915T=
ENST00000555020.5:n.722T=
ENST00000555086.5:n.570T=
ENST00000555214.5:n.387T=
ENST00000556244.1:c.553T=
ENST00000556278.1:c.311T= ENSP00000451792.1:p.Val104=
ENST00000556494.5:n.687T=
ENST00000557706.5:n.1128T=
NM_000155.3:c.566T= NP_000146.2:p.Val189=
NM_001258332.1:c.239T= NP_001245261.1:p.Val80=
NM_000155.4:c.566T= MANE Select NP_000146.2:p.Val189=
NM_001258332.2:c.239T= NP_001245261.1:p.Val80=