Canonical Allele Identifier: CA1397093106

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638541C= , CM000665.2:g.120638541C=	GRCh38
NC_000003.11:g.120357388C= , CM000665.1:g.120357388C=	GRCh37
NC_000003.10:g.121840078C=	NCBI36
NG_011957.1:g.48941G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.920G= MANE Select	ENSP00000283871.5:p.Arg307=
ENST00000283871.9:c.920G=	ENSP00000283871.5:p.Arg307=
ENST00000470321.1:n.260G=
ENST00000475447.2:c.307+3048G=
ENST00000492108.5:c.285+3048G=	ENSP00000419838.1:n.285+3048G=
ENST00000494453.1:c.340G=
NM_000187.3:c.920G=	NP_000178.2:p.Arg307=
XM_005247412.1:c.695G=	XP_005247469.1:p.Arg232=
XM_005247413.1:c.920G=	XP_005247470.1:p.Arg307=
XM_011512746.1:c.879+3048G=	XP_011511048.1:n.879+3048G=
XM_005247412.2:c.695G=	XP_005247469.1:p.Arg232=
XM_005247413.2:c.920G=	XP_005247470.1:p.Arg307=
XM_011512746.2:c.879+3048G=	XP_011511048.1:n.879+3048G=
XM_017006277.2:c.497G=	XP_016861766.1:p.Arg166=
NM_000187.4:c.920G= MANE Select	NP_000178.2:p.Arg307=