Canonical Allele Identifier: CA373278178

Gene: GALT

Linked Data

• dbSNP Id: rs1184899566
• gnomAD v2: 9-34646709-G-A
• COSMIC: COSM4686363
• MyVariant Identifiers: chr9:g.34646709G>A (hg19) ; chr9:g.34646712G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34646712G>A , CM000671.2:g.34646712G>A	GRCh38
NC_000009.11:g.34646709G>A , CM000671.1:g.34646709G>A	GRCh37
NC_000009.10:g.34636709G>A	NCBI36
NG_009029.1:g.5075G>A
NG_009029.2:g.5124G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.8G>A	ENSP00000509954.1:p.Arg3His
ENST00000378842.8:c.8G>A MANE Select	ENSP00000368119.4:p.Arg3His
ENST00000378842.7:c.8G>A	ENSP00000368119.3:p.Arg3His
ENST00000450095.6:c.-195G>A	ENSP00000401956.2:n.-195G>A
ENST00000465543.6:n.45G>A
ENST00000468099.2:n.80G>A
ENST00000472111.5:n.49G>A
ENST00000473506.6:c.8G>A	ENSP00000432839.2:p.Arg3His
ENST00000473529.5:n.55G>A
ENST00000487381.5:n.34G>A
ENST00000489643.6:n.38G>A
ENST00000554085.5:c.8G>A	ENSP00000450419.1:p.Arg3His
ENST00000554139.5:n.61G>A
ENST00000554550.5:c.8G>A	ENSP00000451435.1:p.Arg3His
ENST00000554638.5:n.32G>A
ENST00000554897.5:c.8G>A	ENSP00000450942.1:p.Arg3His
ENST00000554944.5:n.38G>A
ENST00000555020.5:n.38G>A
ENST00000555214.5:n.17G>A
ENST00000556278.1:c.8G>A	ENSP00000451792.1:p.Arg3His
ENST00000557541.5:n.68G>A
ENST00000605275.1:n.244G>A
NM_000155.3:c.8G>A	NP_000146.2:p.Arg3His
NM_001258332.1:c.-195G>A	NP_001245261.1:n.-195G>A
NM_000155.4:c.8G>A MANE Select	NP_000146.2:p.Arg3His
NM_001258332.2:c.-195G>A	NP_001245261.1:n.-195G>A