Canonical Allele Identifier: CA373281880

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648346T>A (hg19) ; chr9:g.34648349T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648349T>A , CM000671.2:g.34648349T>A	GRCh38
NC_000009.11:g.34648346T>A , CM000671.1:g.34648346T>A	GRCh37
NC_000009.10:g.34638346T>A	NCBI36
NG_009029.1:g.6712T>A
NG_028966.1:g.1165T>A
NG_009029.2:g.6761T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*168T>A	ENSP00000509954.1:n.*168T>A
ENST00000378842.8:c.580T>A MANE Select	ENSP00000368119.4:p.Phe194Ile
ENST00000378842.7:c.580T>A	ENSP00000368119.3:p.Phe194Ile
ENST00000450095.6:c.253T>A	ENSP00000401956.2:p.Phe85Ile
ENST00000472111.5:n.836T>A
ENST00000473506.6:c.*168T>A	ENSP00000432839.2:n.*168T>A
ENST00000473529.5:n.739T>A
ENST00000485531.1:n.1174T>A
ENST00000487381.5:n.965T>A
ENST00000489643.6:n.355T>A
ENST00000554085.5:c.*324T>A	ENSP00000450419.1:n.*324T>A
ENST00000554139.5:n.826T>A
ENST00000554550.5:c.*200T>A	ENSP00000451435.1:n.*200T>A
ENST00000554638.5:n.1052T>A
ENST00000554897.5:c.*267T>A	ENSP00000450942.1:n.*267T>A
ENST00000554944.5:n.929T>A
ENST00000555020.5:n.736T>A
ENST00000555086.5:n.584T>A
ENST00000555214.5:n.401T>A
ENST00000556244.1:c.567T>A
ENST00000556278.1:c.325T>A	ENSP00000451792.1:p.Phe109Ile
ENST00000556494.5:n.701T>A
ENST00000557706.5:n.1142T>A
NM_000155.3:c.580T>A	NP_000146.2:p.Phe194Ile
NM_001258332.1:c.253T>A	NP_001245261.1:p.Phe85Ile
NM_000155.4:c.580T>A MANE Select	NP_000146.2:p.Phe194Ile
NM_001258332.2:c.253T>A	NP_001245261.1:p.Phe85Ile