Canonical Allele Identifier: CA1397096579

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646347A= , CM000665.2:g.120646347A=	GRCh38
NC_000003.11:g.120365194A= , CM000665.1:g.120365194A=	GRCh37
NC_000003.10:g.121847884A=	NCBI36
NG_011957.1:g.41135T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.569T= MANE Select	ENSP00000283871.5:p.Ile190=
ENST00000283871.9:c.569T=	ENSP00000283871.5:p.Ile190=
ENST00000475447.2:c.100T=
ENST00000492108.5:c.180+626T=	ENSP00000419838.1:n.180+626T=
NM_000187.3:c.569T=	NP_000178.2:p.Ile190=
XM_005247412.1:c.549+626T=	XP_005247469.1:n.549+626T=
XM_005247413.1:c.569T=	XP_005247470.1:p.Ile190=
XM_005247414.3:c.569T=	XP_005247471.1:p.Ile190=
XM_011512746.1:c.569T=	XP_011511048.1:p.Ile190=
XM_005247412.2:c.549+626T=	XP_005247469.1:n.549+626T=
XM_005247413.2:c.569T=	XP_005247470.1:p.Ile190=
XM_005247414.5:c.569T=	XP_005247471.1:p.Ile190=
XM_011512746.2:c.569T=	XP_011511048.1:p.Ile190=
XM_017006277.2:c.146T=	XP_016861766.1:p.Ile49=
NM_000187.4:c.569T= MANE Select	NP_000178.2:p.Ile190=