Canonical Allele Identifier: CA373278568
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647129G>A , CM000671.2:g.34647129G>A GRCh38
NC_000009.11:g.34647126G>A , CM000671.1:g.34647126G>A GRCh37
NC_000009.10:g.34637126G>A NCBI36
NG_009029.1:g.5492G>A
NG_009029.2:g.5541G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.123G>A ENSP00000509954.1:p.Trp41Ter
ENST00000378842.8:c.123G>A MANE Select ENSP00000368119.4:p.Trp41Ter
ENST00000378842.7:c.123G>A ENSP00000368119.3:p.Trp41Ter
ENST00000450095.6:c.-80G>A ENSP00000401956.2:n.-80G>A
ENST00000465543.6:n.462G>A
ENST00000468099.2:n.163G>A
ENST00000472111.5:n.164G>A
ENST00000473506.6:c.123G>A ENSP00000432839.2:p.Trp41Ter
ENST00000473529.5:n.170G>A
ENST00000485531.1:n.116G>A
ENST00000487381.5:n.149G>A
ENST00000489643.6:n.153G>A
ENST00000554085.5:c.123G>A ENSP00000450419.1:p.Trp41Ter
ENST00000554139.5:n.176G>A
ENST00000554330.5:n.120G>A
ENST00000554550.5:c.123G>A ENSP00000451435.1:p.Trp41Ter
ENST00000554638.5:n.147G>A
ENST00000554897.5:c.123G>A ENSP00000450942.1:p.Trp41Ter
ENST00000554944.5:n.153G>A
ENST00000555020.5:n.153G>A
ENST00000555086.5:n.127G>A
ENST00000555214.5:n.132G>A
ENST00000556157.1:n.230G>A
ENST00000556244.1:c.7G>A
ENST00000556278.1:c.123G>A ENSP00000451792.1:p.Trp41Ter
ENST00000556403.5:n.136G>A
ENST00000556494.5:n.155G>A
ENST00000557541.5:n.316G>A
ENST00000557706.5:n.237G>A
ENST00000605275.1:n.661G>A
NM_000155.3:c.123G>A NP_000146.2:p.Trp41Ter
NM_001258332.1:c.-80G>A NP_001245261.1:n.-80G>A
NM_000155.4:c.123G>A MANE Select NP_000146.2:p.Trp41Ter
NM_001258332.2:c.-80G>A NP_001245261.1:n.-80G>A