Canonical Allele Identifier: CA259558
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 25309
dbSNP Id: rs111033802

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649488G>A , CM000671.2:g.34649488G>A GRCh38
NC_000009.11:g.34649485G>A , CM000671.1:g.34649485G>A GRCh37
NC_000009.10:g.34639485G>A NCBI36
NG_009029.1:g.7851G>A
NG_028966.1:g.2304G>A
NG_009029.2:g.7900G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378842.8:c.983G>A MANE Select ENSP00000368119.4:p.Arg328His
ENST00000378842.7:c.983G>A ENSP00000368119.3:p.Arg328His
ENST00000450095.6:c.656G>A ENSP00000401956.2:p.Arg219His
ENST00000488412.2:n.567G>A
ENST00000489643.6:n.1391G>A
ENST00000554550.5:c.*603G>A ENSP00000451435.1:p.=
ENST00000554638.5:n.1455G>A
ENST00000555020.5:n.1772G>A
ENST00000555754.1:n.431G>A
ENST00000556278.1:c.432+1032G>A ENSP00000451792.1:p.=
ENST00000557706.5:n.1558G>A
NM_000155.3:c.983G>A NP_000146.2:p.Arg328His
NM_001258332.1:c.656G>A NP_001245261.1:p.Arg219His
NM_000155.4:c.983G>A MANE Select NP_000146.2:p.Arg328His
NM_001258332.2:c.656G>A NP_001245261.1:p.Arg219His