Canonical Allele Identifier: CA259443

Gene: GALT

Linked Data

• dbSNP Id: rs111033830
• MyVariant Identifiers: chr9:g.34648340A>G (hg19) ; chr9:g.34648343A>G (hg38)
• PubMed: PMID:17041746

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648343A>G , CM000671.2:g.34648343A>G	GRCh38
NC_000009.11:g.34648340A>G , CM000671.1:g.34648340A>G	GRCh37
NC_000009.10:g.34638340A>G	NCBI36
NG_009029.1:g.6706A>G
NG_028966.1:g.1159A>G
NG_009029.2:g.6755A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*162A>G	ENSP00000509954.1:n.*162A>G
ENST00000378842.8:c.574A>G MANE Select	ENSP00000368119.4:p.Ser192Gly
ENST00000378842.7:c.574A>G	ENSP00000368119.3:p.Ser192Gly
ENST00000450095.6:c.247A>G	ENSP00000401956.2:p.Ser83Gly
ENST00000472111.5:n.830A>G
ENST00000473506.6:c.*162A>G	ENSP00000432839.2:n.*162A>G
ENST00000473529.5:n.733A>G
ENST00000485531.1:n.1168A>G
ENST00000487381.5:n.959A>G
ENST00000489643.6:n.349A>G
ENST00000554085.5:c.*318A>G	ENSP00000450419.1:n.*318A>G
ENST00000554139.5:n.820A>G
ENST00000554550.5:c.*194A>G	ENSP00000451435.1:n.*194A>G
ENST00000554638.5:n.1046A>G
ENST00000554897.5:c.*261A>G	ENSP00000450942.1:n.*261A>G
ENST00000554944.5:n.923A>G
ENST00000555020.5:n.730A>G
ENST00000555086.5:n.578A>G
ENST00000555214.5:n.395A>G
ENST00000556244.1:c.561A>G
ENST00000556278.1:c.319A>G	ENSP00000451792.1:p.Ser107Gly
ENST00000556494.5:n.695A>G
ENST00000557706.5:n.1136A>G
NM_000155.3:c.574A>G	NP_000146.2:p.Ser192Gly
NM_001258332.1:c.247A>G	NP_001245261.1:p.Ser83Gly
NM_000155.4:c.574A>G MANE Select	NP_000146.2:p.Ser192Gly
NM_001258332.2:c.247A>G	NP_001245261.1:p.Ser83Gly