Canonical Allele Identifier: CA1397095767

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120644405G= , CM000665.2:g.120644405G=	GRCh38
NC_000003.11:g.120363252G= , CM000665.1:g.120363252G=	GRCh37
NC_000003.10:g.121845942G=	NCBI36
NG_011957.1:g.43077C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.688C= MANE Select	ENSP00000283871.5:p.Pro230=
ENST00000283871.9:c.688C=	ENSP00000283871.5:p.Pro230=
ENST00000475447.2:c.202+193C=
ENST00000492108.5:c.180+2568C=	ENSP00000419838.1:n.180+2568C=
ENST00000494453.1:c.108C=
NM_000187.3:c.688C=	NP_000178.2:p.Pro230=
XM_005247412.1:c.549+2568C=	XP_005247469.1:n.549+2568C=
XM_005247413.1:c.688C=	XP_005247470.1:p.Pro230=
XM_011512746.1:c.688C=	XP_011511048.1:p.Pro230=
XM_005247412.2:c.549+2568C=	XP_005247469.1:n.549+2568C=
XM_005247413.2:c.688C=	XP_005247470.1:p.Pro230=
XM_005247414.5:c.*162C=	XP_005247471.1:n.*162C=
XM_011512746.2:c.688C=	XP_011511048.1:p.Pro230=
XM_017006277.2:c.265C=	XP_016861766.1:p.Pro89=
NM_000187.4:c.688C= MANE Select	NP_000178.2:p.Pro230=