Canonical Allele Identifier: CA1845639566

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648768C= , CM000671.2:g.34648768C=	GRCh38
NC_000009.11:g.34648765C= , CM000671.1:g.34648765C=	GRCh37
NC_000009.10:g.34638765C=	NCBI36
NG_009029.1:g.7131C=
NG_028966.1:g.1584C=
NG_009029.2:g.7180C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*282C=	ENSP00000509954.1:n.*282C=
ENST00000378842.8:c.694C= MANE Select	ENSP00000368119.4:p.Leu232=
ENST00000378842.7:c.694C=	ENSP00000368119.3:p.Leu232=
ENST00000450095.6:c.367C=	ENSP00000401956.2:p.Leu123=
ENST00000473506.6:c.*282C=	ENSP00000432839.2:n.*282C=
ENST00000473529.5:n.853C=
ENST00000487381.5:n.1384C=
ENST00000489643.6:n.774C=
ENST00000554085.5:c.*438C=	ENSP00000450419.1:n.*438C=
ENST00000554550.5:c.*314C=	ENSP00000451435.1:n.*314C=
ENST00000554638.5:n.1166C=
ENST00000555020.5:n.1155C=
ENST00000555086.5:n.698C=
ENST00000555754.1:n.39C=
ENST00000556244.1:c.681C=
ENST00000556278.1:c.432+312C=	ENSP00000451792.1:n.432+312C=
ENST00000557706.5:n.1256C=
NM_000155.3:c.694C=	NP_000146.2:p.Leu232=
NM_001258332.1:c.367C=	NP_001245261.1:p.Leu123=
NM_000155.4:c.694C= MANE Select	NP_000146.2:p.Leu232=
NM_001258332.2:c.367C=	NP_001245261.1:p.Leu123=