Canonical Allele Identifier: CA259426

Gene: GALT

Linked Data

• dbSNP Id: rs111033720
• MyVariant Identifiers: chr9:g.34648140G>A (hg19) ; chr9:g.34648143G>A (hg38)
• PubMed: PMID:10573007

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648143G>A , CM000671.2:g.34648143G>A	GRCh38
NC_000009.11:g.34648140G>A , CM000671.1:g.34648140G>A	GRCh37
NC_000009.10:g.34638140G>A	NCBI36
NG_009029.1:g.6506G>A
NG_028966.1:g.959G>A
NG_009029.2:g.6555G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*124G>A	ENSP00000509954.1:n.*124G>A
ENST00000378842.8:c.536G>A MANE Select	ENSP00000368119.4:p.Gly179Asp
ENST00000378842.7:c.536G>A	ENSP00000368119.3:p.Gly179Asp
ENST00000450095.6:c.209G>A	ENSP00000401956.2:p.Gly70Asp
ENST00000465543.6:n.875G>A
ENST00000472111.5:n.792G>A
ENST00000473506.6:c.*124G>A	ENSP00000432839.2:n.*124G>A
ENST00000473529.5:n.695G>A
ENST00000485531.1:n.1130G>A
ENST00000487381.5:n.921G>A
ENST00000489643.6:n.311G>A
ENST00000554085.5:c.*280G>A	ENSP00000450419.1:n.*280G>A
ENST00000554139.5:n.782G>A
ENST00000554550.5:c.*156G>A	ENSP00000451435.1:n.*156G>A
ENST00000554638.5:n.1008G>A
ENST00000554897.5:c.*223G>A	ENSP00000450942.1:n.*223G>A
ENST00000554944.5:n.885G>A
ENST00000555020.5:n.692G>A
ENST00000555086.5:n.540G>A
ENST00000555214.5:n.357G>A
ENST00000556244.1:c.523G>A
ENST00000556278.1:c.281G>A	ENSP00000451792.1:p.Gly94Asp
ENST00000556494.5:n.657G>A
ENST00000557706.5:n.1098G>A
NM_000155.3:c.536G>A	NP_000146.2:p.Gly179Asp
NM_001258332.1:c.209G>A	NP_001245261.1:p.Gly70Asp
NM_000155.4:c.536G>A MANE Select	NP_000146.2:p.Gly179Asp
NM_001258332.2:c.209G>A	NP_001245261.1:p.Gly70Asp