Canonical Allele Identifier: CA1397107357

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670429G= , CM000665.2:g.120670429G=	GRCh38
NC_000003.11:g.120389276G= , CM000665.1:g.120389276G=	GRCh37
NC_000003.10:g.121871966G=	NCBI36
NG_011957.1:g.17053C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.280C= MANE Select	ENSP00000283871.5:p.Gln94=
ENST00000283871.9:c.280C=	ENSP00000283871.5:p.Gln94=
ENST00000466528.5:n.306C=
ENST00000476082.2:c.157C=	ENSP00000419560.2:p.Gln53=
ENST00000485313.5:n.388C=
ENST00000488183.5:n.538C=
NM_000187.3:c.280C=	NP_000178.2:p.Gln94=
XM_005247412.1:c.280C=	XP_005247469.1:p.Gln94=
XM_005247413.1:c.280C=	XP_005247470.1:p.Gln94=
XM_005247414.3:c.280C=	XP_005247471.1:p.Gln94=
XM_011512746.1:c.280C=	XP_011511048.1:p.Gln94=
XM_005247412.2:c.280C=	XP_005247469.1:p.Gln94=
XM_005247413.2:c.280C=	XP_005247470.1:p.Gln94=
XM_005247414.5:c.280C=	XP_005247471.1:p.Gln94=
XM_011512746.2:c.280C=	XP_011511048.1:p.Gln94=
XM_017006277.2:c.-144C=	XP_016861766.1:n.-144C=
NM_000187.4:c.280C= MANE Select	NP_000178.2:p.Gln94=