Canonical Allele Identifier: CA1397107396

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670527A= , CM000665.2:g.120670527A=	GRCh38
NC_000003.11:g.120389374A= , CM000665.1:g.120389374A=	GRCh37
NC_000003.10:g.121872064A=	NCBI36
NG_011957.1:g.16955T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.182T= MANE Select	ENSP00000283871.5:p.Leu61=
ENST00000283871.9:c.182T=	ENSP00000283871.5:p.Leu61=
ENST00000466528.5:n.208T=
ENST00000476082.2:c.59T=	ENSP00000419560.2:p.Leu20=
ENST00000485313.5:n.290T=
ENST00000488183.5:n.440T=
NM_000187.3:c.182T=	NP_000178.2:p.Leu61=
XM_005247412.1:c.182T=	XP_005247469.1:p.Leu61=
XM_005247413.1:c.182T=	XP_005247470.1:p.Leu61=
XM_005247414.3:c.182T=	XP_005247471.1:p.Leu61=
XM_011512746.1:c.182T=	XP_011511048.1:p.Leu61=
XM_005247412.2:c.182T=	XP_005247469.1:p.Leu61=
XM_005247413.2:c.182T=	XP_005247470.1:p.Leu61=
XM_005247414.5:c.182T=	XP_005247471.1:p.Leu61=
XM_011512746.2:c.182T=	XP_011511048.1:p.Leu61=
XM_017006277.2:c.-242T=	XP_016861766.1:n.-242T=
NM_000187.4:c.182T= MANE Select	NP_000178.2:p.Leu61=