Canonical Allele Identifier: CA1845638941

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648421C= , CM000671.2:g.34648421C=	GRCh38
NC_000009.11:g.34648418C= , CM000671.1:g.34648418C=	GRCh37
NC_000009.10:g.34638418C=	NCBI36
NG_009029.1:g.6784C=
NG_028966.1:g.1237C=
NG_009029.2:g.6833C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*240C=	ENSP00000509954.1:n.*240C=
ENST00000378842.8:c.652C= MANE Select	ENSP00000368119.4:p.Leu218=
ENST00000378842.7:c.652C=	ENSP00000368119.3:p.Leu218=
ENST00000450095.6:c.325C=	ENSP00000401956.2:p.Leu109=
ENST00000472111.5:n.908C=
ENST00000473506.6:c.*240C=	ENSP00000432839.2:n.*240C=
ENST00000473529.5:n.811C=
ENST00000487381.5:n.1037C=
ENST00000489643.6:n.427C=
ENST00000554085.5:c.*396C=	ENSP00000450419.1:n.*396C=
ENST00000554550.5:c.*272C=	ENSP00000451435.1:n.*272C=
ENST00000554638.5:n.1124C=
ENST00000555020.5:n.808C=
ENST00000555086.5:n.656C=
ENST00000555214.5:n.473C=
ENST00000556244.1:c.639C=
ENST00000556278.1:c.397C=	ENSP00000451792.1:p.Leu133=
ENST00000556494.5:n.773C=
ENST00000557706.5:n.1214C=
NM_000155.3:c.652C=	NP_000146.2:p.Leu218=
NM_001258332.1:c.325C=	NP_001245261.1:p.Leu109=
NM_000155.4:c.652C= MANE Select	NP_000146.2:p.Leu218=
NM_001258332.2:c.325C=	NP_001245261.1:p.Leu109=