Canonical Allele Identifier: CA1397096576

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646343A= , CM000665.2:g.120646343A=	GRCh38
NC_000003.11:g.120365190A= , CM000665.1:g.120365190A=	GRCh37
NC_000003.10:g.121847880A=	NCBI36
NG_011957.1:g.41139T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.573T= MANE Select	ENSP00000283871.5:p.Asp191=
ENST00000283871.9:c.573T=	ENSP00000283871.5:p.Asp191=
ENST00000475447.2:c.104T=
ENST00000492108.5:c.180+630T=	ENSP00000419838.1:n.180+630T=
NM_000187.3:c.573T=	NP_000178.2:p.Asp191=
XM_005247412.1:c.549+630T=	XP_005247469.1:n.549+630T=
XM_005247413.1:c.573T=	XP_005247470.1:p.Asp191=
XM_005247414.3:c.573T=	XP_005247471.1:p.Asp191=
XM_011512746.1:c.573T=	XP_011511048.1:p.Asp191=
XM_005247412.2:c.549+630T=	XP_005247469.1:n.549+630T=
XM_005247413.2:c.573T=	XP_005247470.1:p.Asp191=
XM_005247414.5:c.573T=	XP_005247471.1:p.Asp191=
XM_011512746.2:c.573T=	XP_011511048.1:p.Asp191=
XM_017006277.2:c.150T=	XP_016861766.1:p.Asp50=
NM_000187.4:c.573T= MANE Select	NP_000178.2:p.Asp191=