Canonical Allele Identifier: CA373281828
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648339G>A , CM000671.2:g.34648339G>A GRCh38
NC_000009.11:g.34648336G>A , CM000671.1:g.34648336G>A GRCh37
NC_000009.10:g.34638336G>A NCBI36
NG_009029.1:g.6702G>A
NG_028966.1:g.1155G>A
NG_009029.2:g.6751G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*158G>A ENSP00000509954.1:n.*158G>A
ENST00000378842.8:c.570G>A MANE Select ENSP00000368119.4:p.Trp190Ter
ENST00000378842.7:c.570G>A ENSP00000368119.3:p.Trp190Ter
ENST00000450095.6:c.243G>A ENSP00000401956.2:p.Trp81Ter
ENST00000472111.5:n.826G>A
ENST00000473506.6:c.*158G>A ENSP00000432839.2:n.*158G>A
ENST00000473529.5:n.729G>A
ENST00000485531.1:n.1164G>A
ENST00000487381.5:n.955G>A
ENST00000489643.6:n.345G>A
ENST00000554085.5:c.*314G>A ENSP00000450419.1:n.*314G>A
ENST00000554139.5:n.816G>A
ENST00000554550.5:c.*190G>A ENSP00000451435.1:n.*190G>A
ENST00000554638.5:n.1042G>A
ENST00000554897.5:c.*257G>A ENSP00000450942.1:n.*257G>A
ENST00000554944.5:n.919G>A
ENST00000555020.5:n.726G>A
ENST00000555086.5:n.574G>A
ENST00000555214.5:n.391G>A
ENST00000556244.1:c.557G>A
ENST00000556278.1:c.315G>A ENSP00000451792.1:p.Trp105Ter
ENST00000556494.5:n.691G>A
ENST00000557706.5:n.1132G>A
NM_000155.3:c.570G>A NP_000146.2:p.Trp190Ter
NM_001258332.1:c.243G>A NP_001245261.1:p.Trp81Ter
NM_000155.4:c.570G>A MANE Select NP_000146.2:p.Trp190Ter
NM_001258332.2:c.243G>A NP_001245261.1:p.Trp81Ter