Canonical Allele Identifier: CA1397109249

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674853G= , CM000665.2:g.120674853G=	GRCh38
NC_000003.11:g.120393700G= , CM000665.1:g.120393700G=	GRCh37
NC_000003.10:g.121876390G=	NCBI36
NG_011957.1:g.12629C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.176+48C= MANE Select	ENSP00000283871.5:n.176+48C=
ENST00000283871.9:c.176+48C=	ENSP00000283871.5:n.176+48C=
ENST00000466528.5:n.202+48C=
ENST00000476082.2:c.53+939C=	ENSP00000419560.2:n.53+939C=
ENST00000480862.1:n.382C=
ENST00000485313.5:n.284+48C=
ENST00000488183.5:n.434+48C=
NM_000187.3:c.176+48C=	NP_000178.2:n.176+48C=
XM_005247412.1:c.176+48C=	XP_005247469.1:n.176+48C=
XM_005247413.1:c.176+48C=	XP_005247470.1:n.176+48C=
XM_005247414.3:c.176+48C=	XP_005247471.1:n.176+48C=
XM_011512746.1:c.176+48C=	XP_011511048.1:n.176+48C=
XM_005247412.2:c.176+48C=	XP_005247469.1:n.176+48C=
XM_005247413.2:c.176+48C=	XP_005247470.1:n.176+48C=
XM_005247414.5:c.176+48C=	XP_005247471.1:n.176+48C=
XM_011512746.2:c.176+48C=	XP_011511048.1:n.176+48C=
XM_017006277.2:c.-248+48C=	XP_016861766.1:n.-248+48C=
NM_000187.4:c.176+48C= MANE Select	NP_000178.2:n.176+48C=