Canonical Allele Identifier: CA1397093090

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638498T= , CM000665.2:g.120638498T=	GRCh38
NC_000003.11:g.120357345T= , CM000665.1:g.120357345T=	GRCh37
NC_000003.10:g.121840035T=	NCBI36
NG_011957.1:g.48984A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.963A= MANE Select	ENSP00000283871.5:p.Arg321=
ENST00000283871.9:c.963A=	ENSP00000283871.5:p.Arg321=
ENST00000470321.1:n.303A=
ENST00000475447.2:c.307+3091A=
ENST00000492108.5:c.285+3091A=	ENSP00000419838.1:n.285+3091A=
ENST00000494453.1:c.383A=
NM_000187.3:c.963A=	NP_000178.2:p.Arg321=
XM_005247412.1:c.738A=	XP_005247469.1:p.Arg246=
XM_005247413.1:c.963A=	XP_005247470.1:p.Arg321=
XM_011512746.1:c.879+3091A=	XP_011511048.1:n.879+3091A=
XM_005247412.2:c.738A=	XP_005247469.1:p.Arg246=
XM_005247413.2:c.963A=	XP_005247470.1:p.Arg321=
XM_011512746.2:c.879+3091A=	XP_011511048.1:n.879+3091A=
XM_017006277.2:c.540A=	XP_016861766.1:p.Arg180=
NM_000187.4:c.963A= MANE Select	NP_000178.2:p.Arg321=