Canonical Allele Identifier: CA1397093072

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638467G= , CM000665.2:g.120638467G=	GRCh38
NC_000003.11:g.120357314G= , CM000665.1:g.120357314G=	GRCh37
NC_000003.10:g.121840004G=	NCBI36
NG_011957.1:g.49015C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.994C= MANE Select	ENSP00000283871.5:p.Pro332=
ENST00000283871.9:c.994C=	ENSP00000283871.5:p.Pro332=
ENST00000470321.1:n.334C=
ENST00000475447.2:c.307+3122C=
ENST00000492108.5:c.285+3122C=	ENSP00000419838.1:n.285+3122C=
ENST00000494453.1:c.414C=
NM_000187.3:c.994C=	NP_000178.2:p.Pro332=
XM_005247412.1:c.769C=	XP_005247469.1:p.Pro257=
XM_005247413.1:c.994C=	XP_005247470.1:p.Pro332=
XM_011512746.1:c.879+3122C=	XP_011511048.1:n.879+3122C=
XM_005247412.2:c.769C=	XP_005247469.1:p.Pro257=
XM_005247413.2:c.994C=	XP_005247470.1:p.Pro332=
XM_011512746.2:c.879+3122C=	XP_011511048.1:n.879+3122C=
XM_017006277.2:c.571C=	XP_016861766.1:p.Pro191=
NM_000187.4:c.994C= MANE Select	NP_000178.2:p.Pro332=