Canonical Allele Identifier: CA373280901
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647909A>T , CM000671.2:g.34647909A>T GRCh38
NC_000009.11:g.34647906A>T , CM000671.1:g.34647906A>T GRCh37
NC_000009.10:g.34637906A>T NCBI36
NG_009029.1:g.6272A>T
NG_028966.1:g.725A>T
NG_009029.2:g.6321A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*43A>T ENSP00000509954.1:n.*43A>T
ENST00000378842.8:c.455A>T MANE Select ENSP00000368119.4:p.Asp152Val
ENST00000378842.7:c.455A>T ENSP00000368119.3:p.Asp152Val
ENST00000450095.6:c.128A>T ENSP00000401956.2:p.Asp43Val
ENST00000465543.6:n.794A>T
ENST00000472111.5:n.711A>T
ENST00000473506.6:c.*43A>T ENSP00000432839.2:n.*43A>T
ENST00000473529.5:n.591A>T
ENST00000485531.1:n.896A>T
ENST00000487381.5:n.840A>T
ENST00000489643.6:n.283-206A>T
ENST00000554085.5:c.*199A>T ENSP00000450419.1:n.*199A>T
ENST00000554139.5:n.634A>T
ENST00000554550.5:c.*75A>T ENSP00000451435.1:n.*75A>T
ENST00000554638.5:n.927A>T
ENST00000554897.5:c.*75A>T ENSP00000450942.1:n.*75A>T
ENST00000554944.5:n.651A>T
ENST00000555020.5:n.611A>T
ENST00000555086.5:n.459A>T
ENST00000555214.5:n.262-139A>T
ENST00000556244.1:c.442A>T
ENST00000556278.1:c.253-206A>T ENSP00000451792.1:n.253-206A>T
ENST00000556494.5:n.576A>T
ENST00000557706.5:n.1017A>T
NM_000155.3:c.455A>T NP_000146.2:p.Asp152Val
NM_001258332.1:c.128A>T NP_001245261.1:p.Asp43Val
NM_000155.4:c.455A>T MANE Select NP_000146.2:p.Asp152Val
NM_001258332.2:c.128A>T NP_001245261.1:p.Asp43Val