Canonical Allele Identifier: CA373281987
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648370C>G , CM000671.2:g.34648370C>G GRCh38
NC_000009.11:g.34648367C>G , CM000671.1:g.34648367C>G GRCh37
NC_000009.10:g.34638367C>G NCBI36
NG_009029.1:g.6733C>G
NG_028966.1:g.1186C>G
NG_009029.2:g.6782C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*189C>G ENSP00000509954.1:n.*189C>G
ENST00000378842.8:c.601C>G MANE Select ENSP00000368119.4:p.Arg201Gly
ENST00000378842.7:c.601C>G ENSP00000368119.3:p.Arg201Gly
ENST00000450095.6:c.274C>G ENSP00000401956.2:p.Arg92Gly
ENST00000472111.5:n.857C>G
ENST00000473506.6:c.*189C>G ENSP00000432839.2:n.*189C>G
ENST00000473529.5:n.760C>G
ENST00000485531.1:n.1195C>G
ENST00000487381.5:n.986C>G
ENST00000489643.6:n.376C>G
ENST00000554085.5:c.*345C>G ENSP00000450419.1:n.*345C>G
ENST00000554139.5:n.847C>G
ENST00000554550.5:c.*221C>G ENSP00000451435.1:n.*221C>G
ENST00000554638.5:n.1073C>G
ENST00000554897.5:c.*288C>G ENSP00000450942.1:n.*288C>G
ENST00000554944.5:n.950C>G
ENST00000555020.5:n.757C>G
ENST00000555086.5:n.605C>G
ENST00000555214.5:n.422C>G
ENST00000556244.1:c.588C>G
ENST00000556278.1:c.346C>G ENSP00000451792.1:p.Arg116Gly
ENST00000556494.5:n.722C>G
ENST00000557706.5:n.1163C>G
NM_000155.3:c.601C>G NP_000146.2:p.Arg201Gly
NM_001258332.1:c.274C>G NP_001245261.1:p.Arg92Gly
NM_000155.4:c.601C>G MANE Select NP_000146.2:p.Arg201Gly
NM_001258332.2:c.274C>G NP_001245261.1:p.Arg92Gly