Canonical Allele Identifier: CA373285249
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649544A>G , CM000671.2:g.34649544A>G GRCh38
NC_000009.11:g.34649541A>G , CM000671.1:g.34649541A>G GRCh37
NC_000009.10:g.34639541A>G NCBI36
NG_009029.1:g.7907A>G
NG_028966.1:g.2360A>G
NG_009029.2:g.7956A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*627A>G ENSP00000509954.1:n.*627A>G
ENST00000378842.8:c.1039A>G MANE Select ENSP00000368119.4:p.Arg347Gly
ENST00000378842.7:c.1039A>G ENSP00000368119.3:p.Arg347Gly
ENST00000450095.6:c.712A>G ENSP00000401956.2:p.Arg238Gly
ENST00000488412.2:n.623A>G
ENST00000489643.6:n.1447A>G
ENST00000554550.5:c.*659A>G ENSP00000451435.1:n.*659A>G
ENST00000554638.5:n.1511A>G
ENST00000555020.5:n.1828A>G
ENST00000555754.1:n.487A>G
ENST00000556278.1:c.432+1088A>G ENSP00000451792.1:n.432+1088A>G
ENST00000557706.5:n.1614A>G
NM_000155.3:c.1039A>G NP_000146.2:p.Arg347Gly
NM_001258332.1:c.712A>G NP_001245261.1:p.Arg238Gly
NM_000155.4:c.1039A>G MANE Select NP_000146.2:p.Arg347Gly
NM_001258332.2:c.712A>G NP_001245261.1:p.Arg238Gly