Canonical Allele Identifier: CA373278601

Gene: GALT

Linked Data

• ClinVar Variation Id: 1098803
• ClinVar RCV Id: RCV001420875
• dbSNP Id: rs2132341581
• MyVariant Identifiers: chr9:g.34647143A>G (hg19) ; chr9:g.34647146A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647146A>G , CM000671.2:g.34647146A>G	GRCh38
NC_000009.11:g.34647143A>G , CM000671.1:g.34647143A>G	GRCh37
NC_000009.10:g.34637143A>G	NCBI36
NG_009029.1:g.5509A>G
NG_009029.2:g.5558A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.140A>G	ENSP00000509954.1:p.His47Arg
ENST00000378842.8:c.140A>G MANE Select	ENSP00000368119.4:p.His47Arg
ENST00000378842.7:c.140A>G	ENSP00000368119.3:p.His47Arg
ENST00000450095.6:c.-63A>G	ENSP00000401956.2:n.-63A>G
ENST00000465543.6:n.479A>G
ENST00000468099.2:n.180A>G
ENST00000472111.5:n.181A>G
ENST00000473506.6:c.140A>G	ENSP00000432839.2:p.His47Arg
ENST00000473529.5:n.187A>G
ENST00000485531.1:n.133A>G
ENST00000487381.5:n.166A>G
ENST00000489643.6:n.170A>G
ENST00000554085.5:c.140A>G	ENSP00000450419.1:p.His47Arg
ENST00000554139.5:n.193A>G
ENST00000554330.5:n.137A>G
ENST00000554550.5:c.140A>G	ENSP00000451435.1:p.His47Arg
ENST00000554638.5:n.164A>G
ENST00000554897.5:c.140A>G	ENSP00000450942.1:p.His47Arg
ENST00000554944.5:n.170A>G
ENST00000555020.5:n.170A>G
ENST00000555086.5:n.144A>G
ENST00000555214.5:n.149A>G
ENST00000556157.1:n.247A>G
ENST00000556244.1:c.24A>G
ENST00000556278.1:c.140A>G	ENSP00000451792.1:p.His47Arg
ENST00000556403.5:n.153A>G
ENST00000556494.5:n.172A>G
ENST00000557541.5:n.333A>G
ENST00000557706.5:n.254A>G
ENST00000605275.1:n.678A>G
NM_000155.3:c.140A>G	NP_000146.2:p.His47Arg
NM_001258332.1:c.-63A>G	NP_001245261.1:n.-63A>G
NM_000155.4:c.140A>G MANE Select	NP_000146.2:p.His47Arg
NM_001258332.2:c.-63A>G	NP_001245261.1:n.-63A>G