Canonical Allele Identifier: CA373278487
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647098A>T , CM000671.2:g.34647098A>T GRCh38
NC_000009.11:g.34647095A>T , CM000671.1:g.34647095A>T GRCh37
NC_000009.10:g.34637095A>T NCBI36
NG_009029.1:g.5461A>T
NG_009029.2:g.5510A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.92A>T ENSP00000509954.1:p.His31Leu
ENST00000378842.8:c.92A>T MANE Select ENSP00000368119.4:p.His31Leu
ENST00000378842.7:c.92A>T ENSP00000368119.3:p.His31Leu
ENST00000450095.6:c.-111A>T ENSP00000401956.2:n.-111A>T
ENST00000465543.6:n.431A>T
ENST00000468099.2:n.155-23A>T
ENST00000472111.5:n.133A>T
ENST00000473506.6:c.92A>T ENSP00000432839.2:p.His31Leu
ENST00000473529.5:n.139A>T
ENST00000485531.1:n.85A>T
ENST00000487381.5:n.118A>T
ENST00000489643.6:n.122A>T
ENST00000554085.5:c.92A>T ENSP00000450419.1:p.His31Leu
ENST00000554139.5:n.145A>T
ENST00000554330.5:n.89A>T
ENST00000554550.5:c.92A>T ENSP00000451435.1:p.His31Leu
ENST00000554638.5:n.116A>T
ENST00000554897.5:c.92A>T ENSP00000450942.1:p.His31Leu
ENST00000554944.5:n.122A>T
ENST00000555020.5:n.122A>T
ENST00000555086.5:n.96A>T
ENST00000555214.5:n.101A>T
ENST00000556157.1:n.199A>T
ENST00000556278.1:c.92A>T ENSP00000451792.1:p.His31Leu
ENST00000556403.5:n.105A>T
ENST00000556494.5:n.124A>T
ENST00000557541.5:n.285A>T
ENST00000557706.5:n.206A>T
ENST00000605275.1:n.630A>T
NM_000155.3:c.92A>T NP_000146.2:p.His31Leu
NM_001258332.1:c.-111A>T NP_001245261.1:n.-111A>T
NM_000155.4:c.92A>T MANE Select NP_000146.2:p.His31Leu
NM_001258332.2:c.-111A>T NP_001245261.1:n.-111A>T