Canonical Allele Identifier: CA373278955

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647253G>A (hg19) ; chr9:g.34647256G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647256G>A , CM000671.2:g.34647256G>A	GRCh38
NC_000009.11:g.34647253G>A , CM000671.1:g.34647253G>A	GRCh37
NC_000009.10:g.34637253G>A	NCBI36
NG_009029.1:g.5619G>A
NG_028966.1:g.72G>A
NG_009029.2:g.5668G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.250G>A	ENSP00000509954.1:p.Glu84Lys
ENST00000378842.8:c.250G>A MANE Select	ENSP00000368119.4:p.Glu84Lys
ENST00000378842.7:c.250G>A	ENSP00000368119.3:p.Glu84Lys
ENST00000450095.6:c.48G>A	ENSP00000401956.2:p.Glu16=
ENST00000465543.6:n.589G>A
ENST00000468099.2:n.290G>A
ENST00000472111.5:n.291G>A
ENST00000473506.6:c.250G>A	ENSP00000432839.2:p.Glu84Lys
ENST00000473529.5:n.297G>A
ENST00000485531.1:n.243G>A
ENST00000487381.5:n.276G>A
ENST00000489643.6:n.280G>A
ENST00000554085.5:c.250G>A	ENSP00000450419.1:p.Glu84Lys
ENST00000554139.5:n.303G>A
ENST00000554330.5:n.247G>A
ENST00000554550.5:c.250G>A	ENSP00000451435.1:p.Glu84Lys
ENST00000554638.5:n.274G>A
ENST00000554897.5:c.250G>A	ENSP00000450942.1:p.Glu84Lys
ENST00000554944.5:n.280G>A
ENST00000555020.5:n.280G>A
ENST00000555086.5:n.254G>A
ENST00000555214.5:n.259G>A
ENST00000556157.1:n.357G>A
ENST00000556244.1:c.134G>A
ENST00000556278.1:c.250G>A	ENSP00000451792.1:p.Glu84Lys
ENST00000556403.5:n.263G>A
ENST00000556494.5:n.282G>A
ENST00000557541.5:n.443G>A
ENST00000557706.5:n.364G>A
NM_000155.3:c.250G>A	NP_000146.2:p.Glu84Lys
NM_001258332.1:c.48G>A	NP_001245261.1:p.Glu16=
NM_000155.4:c.250G>A MANE Select	NP_000146.2:p.Glu84Lys
NM_001258332.2:c.48G>A	NP_001245261.1:p.Glu16=