Canonical Allele Identifier: CA259506

Gene: GALT

Linked Data

• dbSNP Id: rs111033766
• MyVariant Identifiers: chr9:g.34648885C>G (hg19) ; chr9:g.34648888C>G (hg38)
• PubMed: PMID:10408771

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648888C>G , CM000671.2:g.34648888C>G	GRCh38
NC_000009.11:g.34648885C>G , CM000671.1:g.34648885C>G	GRCh37
NC_000009.10:g.34638885C>G	NCBI36
NG_009029.1:g.7251C>G
NG_028966.1:g.1704C>G
NG_009029.2:g.7300C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*402C>G	ENSP00000509954.1:n.*402C>G
ENST00000378842.8:c.814C>G MANE Select	ENSP00000368119.4:p.Arg272Gly
ENST00000378842.7:c.814C>G	ENSP00000368119.3:p.Arg272Gly
ENST00000450095.6:c.487C>G	ENSP00000401956.2:p.Arg163Gly
ENST00000473506.6:c.*402C>G	ENSP00000432839.2:n.*402C>G
ENST00000489643.6:n.894C>G
ENST00000554085.5:c.*558C>G	ENSP00000450419.1:n.*558C>G
ENST00000554550.5:c.*434C>G	ENSP00000451435.1:n.*434C>G
ENST00000554638.5:n.1286C>G
ENST00000555020.5:n.1275C>G
ENST00000555086.5:n.818C>G
ENST00000555754.1:n.159C>G
ENST00000556244.1:c.801C>G
ENST00000556278.1:c.432+432C>G	ENSP00000451792.1:n.432+432C>G
ENST00000557706.5:n.1376C>G
NM_000155.3:c.814C>G	NP_000146.2:p.Arg272Gly
NM_001258332.1:c.487C>G	NP_001245261.1:p.Arg163Gly
NM_000155.4:c.814C>G MANE Select	NP_000146.2:p.Arg272Gly
NM_001258332.2:c.487C>G	NP_001245261.1:p.Arg163Gly