Canonical Allele Identifier: CA340108

Gene: GALT

Linked Data

• ClinVar Variation Id: 3622
• ClinVar RCV Id: RCV000003806 ; RCV000727661 ; RCV001271243
• dbSNP Id: rs111033736
• gnomAD v2: 9-34648373-G-A
• gnomAD v3: 9-34648376-G-A
• gnomAD v4: 9-34648376-G-A
• MyVariant Identifiers: chr9:g.34648373G>A (hg19) ; chr9:g.34648376G>A (hg38)
• PubMed: PMID:7887416 ; PMID:20301691

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648376G>A , CM000671.2:g.34648376G>A	GRCh38
NC_000009.11:g.34648373G>A , CM000671.1:g.34648373G>A	GRCh37
NC_000009.10:g.34638373G>A	NCBI36
NG_009029.1:g.6739G>A
NG_028966.1:g.1192G>A
NG_009029.2:g.6788G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*195G>A	ENSP00000509954.1:n.*195G>A
ENST00000378842.8:c.607G>A MANE Select	ENSP00000368119.4:p.Glu203Lys
ENST00000378842.7:c.607G>A	ENSP00000368119.3:p.Glu203Lys
ENST00000450095.6:c.280G>A	ENSP00000401956.2:p.Glu94Lys
ENST00000472111.5:n.863G>A
ENST00000473506.6:c.*195G>A	ENSP00000432839.2:n.*195G>A
ENST00000473529.5:n.766G>A
ENST00000485531.1:n.1201G>A
ENST00000487381.5:n.992G>A
ENST00000489643.6:n.382G>A
ENST00000554085.5:c.*351G>A	ENSP00000450419.1:n.*351G>A
ENST00000554139.5:n.853G>A
ENST00000554550.5:c.*227G>A	ENSP00000451435.1:n.*227G>A
ENST00000554638.5:n.1079G>A
ENST00000554944.5:n.956G>A
ENST00000555020.5:n.763G>A
ENST00000555086.5:n.611G>A
ENST00000555214.5:n.428G>A
ENST00000556244.1:c.594G>A
ENST00000556278.1:c.352G>A	ENSP00000451792.1:p.Glu118Lys
ENST00000556494.5:n.728G>A
ENST00000557706.5:n.1169G>A
NM_000155.3:c.607G>A	NP_000146.2:p.Glu203Lys
NM_001258332.1:c.280G>A	NP_001245261.1:p.Glu94Lys
NM_000155.4:c.607G>A MANE Select	NP_000146.2:p.Glu203Lys
NM_001258332.2:c.280G>A	NP_001245261.1:p.Glu94Lys