Canonical Allele Identifier: CA373280634
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647855G>A , CM000671.2:g.34647855G>A GRCh38
NC_000009.11:g.34647852G>A , CM000671.1:g.34647852G>A GRCh37
NC_000009.10:g.34637852G>A NCBI36
NG_009029.1:g.6218G>A
NG_028966.1:g.671G>A
NG_009029.2:g.6267G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.352G>A ENSP00000509954.1:p.Gly118Ser
ENST00000378842.8:c.401G>A MANE Select ENSP00000368119.4:p.Trp134Ter
ENST00000378842.7:c.401G>A ENSP00000368119.3:p.Trp134Ter
ENST00000450095.6:c.74G>A ENSP00000401956.2:p.Trp25Ter
ENST00000465543.6:n.740G>A
ENST00000472111.5:n.657G>A
ENST00000473506.6:c.352G>A ENSP00000432839.2:p.Gly118Ser
ENST00000473529.5:n.537G>A
ENST00000485531.1:n.842G>A
ENST00000487381.5:n.786G>A
ENST00000489643.6:n.283-260G>A
ENST00000554085.5:c.*145G>A ENSP00000450419.1:n.*145G>A
ENST00000554139.5:n.580G>A
ENST00000554550.5:c.*21G>A ENSP00000451435.1:n.*21G>A
ENST00000554638.5:n.873G>A
ENST00000554897.5:c.*21G>A ENSP00000450942.1:n.*21G>A
ENST00000554944.5:n.597G>A
ENST00000555020.5:n.557G>A
ENST00000555086.5:n.405G>A
ENST00000555214.5:n.262-193G>A
ENST00000556244.1:c.388G>A
ENST00000556278.1:c.253-260G>A ENSP00000451792.1:n.253-260G>A
ENST00000556494.5:n.522G>A
ENST00000557541.5:n.545G>A
ENST00000557706.5:n.963G>A
NM_000155.3:c.401G>A NP_000146.2:p.Trp134Ter
NM_001258332.1:c.74G>A NP_001245261.1:p.Trp25Ter
NM_000155.4:c.401G>A MANE Select NP_000146.2:p.Trp134Ter
NM_001258332.2:c.74G>A NP_001245261.1:p.Trp25Ter