Canonical Allele Identifier: CA373283544

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648789T>A (hg19) ; chr9:g.34648792T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648792T>A , CM000671.2:g.34648792T>A	GRCh38
NC_000009.11:g.34648789T>A , CM000671.1:g.34648789T>A	GRCh37
NC_000009.10:g.34638789T>A	NCBI36
NG_009029.1:g.7155T>A
NG_028966.1:g.1608T>A
NG_009029.2:g.7204T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*306T>A	ENSP00000509954.1:n.*306T>A
ENST00000378842.8:c.718T>A MANE Select	ENSP00000368119.4:p.Leu240Ile
ENST00000378842.7:c.718T>A	ENSP00000368119.3:p.Leu240Ile
ENST00000450095.6:c.391T>A	ENSP00000401956.2:p.Leu131Ile
ENST00000473506.6:c.*306T>A	ENSP00000432839.2:n.*306T>A
ENST00000473529.5:n.877T>A
ENST00000487381.5:n.1408T>A
ENST00000489643.6:n.798T>A
ENST00000554085.5:c.*462T>A	ENSP00000450419.1:n.*462T>A
ENST00000554550.5:c.*338T>A	ENSP00000451435.1:n.*338T>A
ENST00000554638.5:n.1190T>A
ENST00000555020.5:n.1179T>A
ENST00000555086.5:n.722T>A
ENST00000555754.1:n.63T>A
ENST00000556244.1:c.705T>A
ENST00000556278.1:c.432+336T>A	ENSP00000451792.1:n.432+336T>A
ENST00000557706.5:n.1280T>A
NM_000155.3:c.718T>A	NP_000146.2:p.Leu240Ile
NM_001258332.1:c.391T>A	NP_001245261.1:p.Leu131Ile
NM_000155.4:c.718T>A MANE Select	NP_000146.2:p.Leu240Ile
NM_001258332.2:c.391T>A	NP_001245261.1:p.Leu131Ile