Canonical Allele Identifier: CA2560382

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120675825A>T , CM000665.2:g.120675825A>T	GRCh38
NC_000003.11:g.120394672A>T , CM000665.1:g.120394672A>T	GRCh37
NC_000003.10:g.121877362A>T	NCBI36
NG_011957.1:g.11657T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.54T>A MANE Select	NP_000178.2:p.Asp18Glu
ENST00000283871.10:c.54T>A MANE Select	ENSP00000283871.5:p.Asp18Glu
NM_000187.3:c.54T>A	NP_000178.2:p.Asp18Glu
ENST00000283871.9:c.54T>A	ENSP00000283871.5:p.Asp18Glu
ENST00000466528.5:n.80T>A
ENST00000476082.2:c.20T>A	ENSP00000419560.2:p.Ile7Asn
ENST00000480862.1:n.212T>A
ENST00000485313.5:n.162T>A
ENST00000488183.5:n.312T>A
XM_005247412.1:c.54T>A	XP_005247469.1:p.Asp18Glu
XM_005247412.2:c.54T>A	XP_005247469.1:p.Asp18Glu
XM_005247413.1:c.54T>A	XP_005247470.1:p.Asp18Glu
XM_005247413.2:c.54T>A	XP_005247470.1:p.Asp18Glu
XM_005247414.3:c.54T>A	XP_005247471.1:p.Asp18Glu
XM_005247414.5:c.54T>A	XP_005247471.1:p.Asp18Glu
XM_011512746.1:c.54T>A	XP_011511048.1:p.Asp18Glu
XM_011512746.2:c.54T>A	XP_011511048.1:p.Asp18Glu
XM_017006277.2:c.-370T>A	XP_016861766.1:n.-370T>A