Canonical Allele Identifier: CA1397096548

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646277A= , CM000665.2:g.120646277A=	GRCh38
NC_000003.11:g.120365124A= , CM000665.1:g.120365124A=	GRCh37
NC_000003.10:g.121847814A=	NCBI36
NG_011957.1:g.41205T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.639T= MANE Select	ENSP00000283871.5:p.Leu213=
ENST00000283871.9:c.639T=	ENSP00000283871.5:p.Leu213=
ENST00000475447.2:c.170T=
ENST00000492108.5:c.180+696T=	ENSP00000419838.1:n.180+696T=
ENST00000494453.1:c.59T=
NM_000187.3:c.639T=	NP_000178.2:p.Leu213=
XM_005247412.1:c.549+696T=	XP_005247469.1:n.549+696T=
XM_005247413.1:c.639T=	XP_005247470.1:p.Leu213=
XM_005247414.3:c.639T=	XP_005247471.1:p.Leu213=
XM_011512746.1:c.639T=	XP_011511048.1:p.Leu213=
XM_005247412.2:c.549+696T=	XP_005247469.1:n.549+696T=
XM_005247413.2:c.639T=	XP_005247470.1:p.Leu213=
XM_005247414.5:c.639T=	XP_005247471.1:p.Leu213=
XM_011512746.2:c.639T=	XP_011511048.1:p.Leu213=
XM_017006277.2:c.216T=	XP_016861766.1:p.Leu72=
NM_000187.4:c.639T= MANE Select	NP_000178.2:p.Leu213=