Canonical Allele Identifier: CA5036032

Gene: GALT

Linked Data

• ClinVar Variation Id: 1125318
• ClinVar RCV Id: RCV001457015
• dbSNP Id: rs754140417
• ExAC: 9:34647177 G / A
• gnomAD v2: 9-34647177-G-A
• gnomAD v4: 9-34647180-G-A
• MyVariant Identifiers: chr9:g.34647177G>A (hg19) ; chr9:g.34647180G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647180G>A , CM000671.2:g.34647180G>A	GRCh38
NC_000009.11:g.34647177G>A , CM000671.1:g.34647177G>A	GRCh37
NC_000009.10:g.34637177G>A	NCBI36
NG_009029.1:g.5543G>A
NG_009029.2:g.5592G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.174G>A	ENSP00000509954.1:p.Glu58=
ENST00000378842.8:c.174G>A MANE Select	ENSP00000368119.4:p.Glu58=
ENST00000378842.7:c.174G>A	ENSP00000368119.3:p.Glu58=
ENST00000450095.6:c.-29G>A	ENSP00000401956.2:n.-29G>A
ENST00000465543.6:n.513G>A
ENST00000468099.2:n.214G>A
ENST00000472111.5:n.215G>A
ENST00000473506.6:c.174G>A	ENSP00000432839.2:p.Glu58=
ENST00000473529.5:n.221G>A
ENST00000485531.1:n.167G>A
ENST00000487381.5:n.200G>A
ENST00000489643.6:n.204G>A
ENST00000554085.5:c.174G>A	ENSP00000450419.1:p.Glu58=
ENST00000554139.5:n.227G>A
ENST00000554330.5:n.171G>A
ENST00000554550.5:c.174G>A	ENSP00000451435.1:p.Glu58=
ENST00000554638.5:n.198G>A
ENST00000554897.5:c.174G>A	ENSP00000450942.1:p.Glu58=
ENST00000554944.5:n.204G>A
ENST00000555020.5:n.204G>A
ENST00000555086.5:n.178G>A
ENST00000555214.5:n.183G>A
ENST00000556157.1:n.281G>A
ENST00000556244.1:c.58G>A
ENST00000556278.1:c.174G>A	ENSP00000451792.1:p.Glu58=
ENST00000556403.5:n.187G>A
ENST00000556494.5:n.206G>A
ENST00000557541.5:n.367G>A
ENST00000557706.5:n.288G>A
NM_000155.3:c.174G>A	NP_000146.2:p.Glu58=
NM_001258332.1:c.-29G>A	NP_001245261.1:n.-29G>A
NM_000155.4:c.174G>A MANE Select	NP_000146.2:p.Glu58=
NM_001258332.2:c.-29G>A	NP_001245261.1:n.-29G>A