Canonical Allele Identifier: CA373278570
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.123G>T ENSP00000509954.1:p.Trp41Cys
ENST00000378842.8:c.123G>T MANE Select ENSP00000368119.4:p.Trp41Cys
ENST00000378842.7:c.123G>T ENSP00000368119.3:p.Trp41Cys
ENST00000450095.6:c.-80G>T ENSP00000401956.2:n.-80G>T
ENST00000465543.6:n.462G>T
ENST00000468099.2:n.163G>T
ENST00000472111.5:n.164G>T
ENST00000473506.6:c.123G>T ENSP00000432839.2:p.Trp41Cys
ENST00000473529.5:n.170G>T
ENST00000485531.1:n.116G>T
ENST00000487381.5:n.149G>T
ENST00000489643.6:n.153G>T
ENST00000554085.5:c.123G>T ENSP00000450419.1:p.Trp41Cys
ENST00000554139.5:n.176G>T
ENST00000554330.5:n.120G>T
ENST00000554550.5:c.123G>T ENSP00000451435.1:p.Trp41Cys
ENST00000554638.5:n.147G>T
ENST00000554897.5:c.123G>T ENSP00000450942.1:p.Trp41Cys
ENST00000554944.5:n.153G>T
ENST00000555020.5:n.153G>T
ENST00000555086.5:n.127G>T
ENST00000555214.5:n.132G>T
ENST00000556157.1:n.230G>T
ENST00000556244.1:c.7G>T
ENST00000556278.1:c.123G>T ENSP00000451792.1:p.Trp41Cys
ENST00000556403.5:n.136G>T
ENST00000556494.5:n.155G>T
ENST00000557541.5:n.316G>T
ENST00000557706.5:n.237G>T
ENST00000605275.1:n.661G>T
NM_000155.3:c.123G>T NP_000146.2:p.Trp41Cys
NM_001258332.1:c.-80G>T NP_001245261.1:n.-80G>T
NM_000155.4:c.123G>T MANE Select NP_000146.2:p.Trp41Cys
NM_001258332.2:c.-80G>T NP_001245261.1:n.-80G>T