Canonical Allele Identifier: CA373281785

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648332T>A (hg19) ; chr9:g.34648335T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648335T>A , CM000671.2:g.34648335T>A	GRCh38
NC_000009.11:g.34648332T>A , CM000671.1:g.34648332T>A	GRCh37
NC_000009.10:g.34638332T>A	NCBI36
NG_009029.1:g.6698T>A
NG_028966.1:g.1151T>A
NG_009029.2:g.6747T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*154T>A	ENSP00000509954.1:n.*154T>A
ENST00000378842.8:c.566T>A MANE Select	ENSP00000368119.4:p.Val189Glu
ENST00000378842.7:c.566T>A	ENSP00000368119.3:p.Val189Glu
ENST00000450095.6:c.239T>A	ENSP00000401956.2:p.Val80Glu
ENST00000472111.5:n.822T>A
ENST00000473506.6:c.*154T>A	ENSP00000432839.2:n.*154T>A
ENST00000473529.5:n.725T>A
ENST00000485531.1:n.1160T>A
ENST00000487381.5:n.951T>A
ENST00000489643.6:n.341T>A
ENST00000554085.5:c.*310T>A	ENSP00000450419.1:n.*310T>A
ENST00000554139.5:n.812T>A
ENST00000554550.5:c.*186T>A	ENSP00000451435.1:n.*186T>A
ENST00000554638.5:n.1038T>A
ENST00000554897.5:c.*253T>A	ENSP00000450942.1:n.*253T>A
ENST00000554944.5:n.915T>A
ENST00000555020.5:n.722T>A
ENST00000555086.5:n.570T>A
ENST00000555214.5:n.387T>A
ENST00000556244.1:c.553T>A
ENST00000556278.1:c.311T>A	ENSP00000451792.1:p.Val104Glu
ENST00000556494.5:n.687T>A
ENST00000557706.5:n.1128T>A
NM_000155.3:c.566T>A	NP_000146.2:p.Val189Glu
NM_001258332.1:c.239T>A	NP_001245261.1:p.Val80Glu
NM_000155.4:c.566T>A MANE Select	NP_000146.2:p.Val189Glu
NM_001258332.2:c.239T>A	NP_001245261.1:p.Val80Glu