Canonical Allele Identifier: CA373282216

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648415C>A (hg19) ; chr9:g.34648418C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648418C>A , CM000671.2:g.34648418C>A	GRCh38
NC_000009.11:g.34648415C>A , CM000671.1:g.34648415C>A	GRCh37
NC_000009.10:g.34638415C>A	NCBI36
NG_009029.1:g.6781C>A
NG_028966.1:g.1234C>A
NG_009029.2:g.6830C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*237C>A	ENSP00000509954.1:n.*237C>A
ENST00000378842.8:c.649C>A MANE Select	ENSP00000368119.4:p.Leu217Met
ENST00000378842.7:c.649C>A	ENSP00000368119.3:p.Leu217Met
ENST00000450095.6:c.322C>A	ENSP00000401956.2:p.Leu108Met
ENST00000472111.5:n.905C>A
ENST00000473506.6:c.*237C>A	ENSP00000432839.2:n.*237C>A
ENST00000473529.5:n.808C>A
ENST00000487381.5:n.1034C>A
ENST00000489643.6:n.424C>A
ENST00000554085.5:c.*393C>A	ENSP00000450419.1:n.*393C>A
ENST00000554550.5:c.*269C>A	ENSP00000451435.1:n.*269C>A
ENST00000554638.5:n.1121C>A
ENST00000555020.5:n.805C>A
ENST00000555086.5:n.653C>A
ENST00000555214.5:n.470C>A
ENST00000556244.1:c.636C>A
ENST00000556278.1:c.394C>A	ENSP00000451792.1:p.Leu132Met
ENST00000556494.5:n.770C>A
ENST00000557706.5:n.1211C>A
NM_000155.3:c.649C>A	NP_000146.2:p.Leu217Met
NM_001258332.1:c.322C>A	NP_001245261.1:p.Leu108Met
NM_000155.4:c.649C>A MANE Select	NP_000146.2:p.Leu217Met
NM_001258332.2:c.322C>A	NP_001245261.1:p.Leu108Met