Canonical Allele Identifier: CA5036127

Gene: GALT

Linked Data

• ClinVar Variation Id: 2145276
• ClinVar RCV Id: RCV003071361
• dbSNP Id: rs751174705
• ExAC: 9:34647908 G / A
• gnomAD v2: 9-34647908-G-A
• gnomAD v4: 9-34647911-G-A
• MyVariant Identifiers: chr9:g.34647908G>A (hg19) ; chr9:g.34647911G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647911G>A , CM000671.2:g.34647911G>A	GRCh38
NC_000009.11:g.34647908G>A , CM000671.1:g.34647908G>A	GRCh37
NC_000009.10:g.34637908G>A	NCBI36
NG_009029.1:g.6274G>A
NG_028966.1:g.727G>A
NG_009029.2:g.6323G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*45G>A	ENSP00000509954.1:n.*45G>A
ENST00000378842.8:c.457G>A MANE Select	ENSP00000368119.4:p.Ala153Thr
ENST00000378842.7:c.457G>A	ENSP00000368119.3:p.Ala153Thr
ENST00000450095.6:c.130G>A	ENSP00000401956.2:p.Ala44Thr
ENST00000465543.6:n.796G>A
ENST00000472111.5:n.713G>A
ENST00000473506.6:c.*45G>A	ENSP00000432839.2:n.*45G>A
ENST00000473529.5:n.593G>A
ENST00000485531.1:n.898G>A
ENST00000487381.5:n.842G>A
ENST00000489643.6:n.283-204G>A
ENST00000554085.5:c.*201G>A	ENSP00000450419.1:n.*201G>A
ENST00000554139.5:n.636G>A
ENST00000554550.5:c.*77G>A	ENSP00000451435.1:n.*77G>A
ENST00000554638.5:n.929G>A
ENST00000554897.5:c.*77G>A	ENSP00000450942.1:n.*77G>A
ENST00000554944.5:n.653G>A
ENST00000555020.5:n.613G>A
ENST00000555086.5:n.461G>A
ENST00000555214.5:n.262-137G>A
ENST00000556244.1:c.444G>A
ENST00000556278.1:c.253-204G>A	ENSP00000451792.1:n.253-204G>A
ENST00000556494.5:n.578G>A
ENST00000557706.5:n.1019G>A
NM_000155.3:c.457G>A	NP_000146.2:p.Ala153Thr
NM_001258332.1:c.130G>A	NP_001245261.1:p.Ala44Thr
NM_000155.4:c.457G>A MANE Select	NP_000146.2:p.Ala153Thr
NM_001258332.2:c.130G>A	NP_001245261.1:p.Ala44Thr