Canonical Allele Identifier: CA1397093117

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638564T= , CM000665.2:g.120638564T=	GRCh38
NC_000003.11:g.120357411T= , CM000665.1:g.120357411T=	GRCh37
NC_000003.10:g.121840101T=	NCBI36
NG_011957.1:g.48918A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.897A= MANE Select	ENSP00000283871.5:p.Thr299=
ENST00000283871.9:c.897A=	ENSP00000283871.5:p.Thr299=
ENST00000470321.1:n.237A=
ENST00000475447.2:c.307+3025A=
ENST00000492108.5:c.285+3025A=	ENSP00000419838.1:n.285+3025A=
ENST00000494453.1:c.317A=
NM_000187.3:c.897A=	NP_000178.2:p.Thr299=
XM_005247412.1:c.672A=	XP_005247469.1:p.Thr224=
XM_005247413.1:c.897A=	XP_005247470.1:p.Thr299=
XM_011512746.1:c.879+3025A=	XP_011511048.1:n.879+3025A=
XM_005247412.2:c.672A=	XP_005247469.1:p.Thr224=
XM_005247413.2:c.897A=	XP_005247470.1:p.Thr299=
XM_011512746.2:c.879+3025A=	XP_011511048.1:n.879+3025A=
XM_017006277.2:c.474A=	XP_016861766.1:p.Thr158=
NM_000187.4:c.897A= MANE Select	NP_000178.2:p.Thr299=