Canonical Allele Identifier: CA340109

Gene: GALT

Linked Data

• ClinVar Variation Id: 3623
• ClinVar RCV Id: RCV000003807 ; RCV001831511
• dbSNP Id: rs111033800
• gnomAD v3: 9-34649502-C-G
• gnomAD v4: 9-34649502-C-G
• MyVariant Identifiers: chr9:g.34649499C>G (hg19) ; chr9:g.34649502C>G (hg38)
• PubMed: PMID:1427861 ; PMID:10439960 ; PMID:20301691

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649502C>G , CM000671.2:g.34649502C>G	GRCh38
NC_000009.11:g.34649499C>G , CM000671.1:g.34649499C>G	GRCh37
NC_000009.10:g.34639499C>G	NCBI36
NG_009029.1:g.7865C>G
NG_028966.1:g.2318C>G
NG_009029.2:g.7914C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*585C>G	ENSP00000509954.1:n.*585C>G
ENST00000378842.8:c.997C>G MANE Select	ENSP00000368119.4:p.Arg333Gly
ENST00000378842.7:c.997C>G	ENSP00000368119.3:p.Arg333Gly
ENST00000450095.6:c.670C>G	ENSP00000401956.2:p.Arg224Gly
ENST00000488412.2:n.581C>G
ENST00000489643.6:n.1405C>G
ENST00000554550.5:c.*617C>G	ENSP00000451435.1:n.*617C>G
ENST00000554638.5:n.1469C>G
ENST00000555020.5:n.1786C>G
ENST00000555754.1:n.445C>G
ENST00000556278.1:c.432+1046C>G	ENSP00000451792.1:n.432+1046C>G
ENST00000557706.5:n.1572C>G
NM_000155.3:c.997C>G	NP_000146.2:p.Arg333Gly
NM_001258332.1:c.670C>G	NP_001245261.1:p.Arg224Gly
NM_000155.4:c.997C>G MANE Select	NP_000146.2:p.Arg333Gly
NM_001258332.2:c.670C>G	NP_001245261.1:p.Arg224Gly