Canonical Allele Identifier: CA1397096571

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646327T= , CM000665.2:g.120646327T=	GRCh38
NC_000003.11:g.120365174T= , CM000665.1:g.120365174T=	GRCh37
NC_000003.10:g.121847864T=	NCBI36
NG_011957.1:g.41155A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.589A= MANE Select	ENSP00000283871.5:p.Arg197=
ENST00000283871.9:c.589A=	ENSP00000283871.5:p.Arg197=
ENST00000475447.2:c.120A=
ENST00000492108.5:c.180+646A=	ENSP00000419838.1:n.180+646A=
ENST00000494453.1:c.9A=
NM_000187.3:c.589A=	NP_000178.2:p.Arg197=
XM_005247412.1:c.549+646A=	XP_005247469.1:n.549+646A=
XM_005247413.1:c.589A=	XP_005247470.1:p.Arg197=
XM_005247414.3:c.589A=	XP_005247471.1:p.Arg197=
XM_011512746.1:c.589A=	XP_011511048.1:p.Arg197=
XM_005247412.2:c.549+646A=	XP_005247469.1:n.549+646A=
XM_005247413.2:c.589A=	XP_005247470.1:p.Arg197=
XM_005247414.5:c.589A=	XP_005247471.1:p.Arg197=
XM_011512746.2:c.589A=	XP_011511048.1:p.Arg197=
XM_017006277.2:c.166A=	XP_016861766.1:p.Arg56=
NM_000187.4:c.589A= MANE Select	NP_000178.2:p.Arg197=