Canonical Allele Identifier: CA1397093082

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638489A= , CM000665.2:g.120638489A=	GRCh38
NC_000003.11:g.120357336A= , CM000665.1:g.120357336A=	GRCh37
NC_000003.10:g.121840026A=	NCBI36
NG_011957.1:g.48993T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.972T= MANE Select	ENSP00000283871.5:p.Val324=
ENST00000283871.9:c.972T=	ENSP00000283871.5:p.Val324=
ENST00000470321.1:n.312T=
ENST00000475447.2:c.307+3100T=
ENST00000492108.5:c.285+3100T=	ENSP00000419838.1:n.285+3100T=
ENST00000494453.1:c.392T=
NM_000187.3:c.972T=	NP_000178.2:p.Val324=
XM_005247412.1:c.747T=	XP_005247469.1:p.Val249=
XM_005247413.1:c.972T=	XP_005247470.1:p.Val324=
XM_011512746.1:c.879+3100T=	XP_011511048.1:n.879+3100T=
XM_005247412.2:c.747T=	XP_005247469.1:p.Val249=
XM_005247413.2:c.972T=	XP_005247470.1:p.Val324=
XM_011512746.2:c.879+3100T=	XP_011511048.1:n.879+3100T=
XM_017006277.2:c.549T=	XP_016861766.1:p.Val183=
NM_000187.4:c.972T= MANE Select	NP_000178.2:p.Val324=