Canonical Allele Identifier: CA1397096520

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646219G= , CM000665.2:g.120646219G=	GRCh38
NC_000003.11:g.120365066G= , CM000665.1:g.120365066G=	GRCh37
NC_000003.10:g.121847756G=	NCBI36
NG_011957.1:g.41263C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.649+48C= MANE Select	ENSP00000283871.5:n.649+48C=
ENST00000283871.9:c.649+48C=	ENSP00000283871.5:n.649+48C=
ENST00000475447.2:c.180+48C=
ENST00000492108.5:c.180+754C=	ENSP00000419838.1:n.180+754C=
ENST00000494453.1:c.69+48C=
NM_000187.3:c.649+48C=	NP_000178.2:n.649+48C=
XM_005247412.1:c.549+754C=	XP_005247469.1:n.549+754C=
XM_005247413.1:c.649+48C=	XP_005247470.1:n.649+48C=
XM_005247414.3:c.649+48C=	XP_005247471.1:n.649+48C=
XM_011512746.1:c.649+48C=	XP_011511048.1:n.649+48C=
XM_005247412.2:c.549+754C=	XP_005247469.1:n.549+754C=
XM_005247413.2:c.649+48C=	XP_005247470.1:n.649+48C=
XM_005247414.5:c.649+48C=	XP_005247471.1:n.649+48C=
XM_011512746.2:c.649+48C=	XP_011511048.1:n.649+48C=
XM_017006277.2:c.226+48C=	XP_016861766.1:n.226+48C=
NM_000187.4:c.649+48C= MANE Select	NP_000178.2:n.649+48C=