Canonical Allele Identifier: CA354082849

Gene: HGD

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.54T>G MANE Select	NP_000178.2:p.Asp18Glu
ENST00000283871.10:c.54T>G MANE Select	ENSP00000283871.5:p.Asp18Glu
NM_000187.3:c.54T>G	NP_000178.2:p.Asp18Glu
ENST00000283871.9:c.54T>G	ENSP00000283871.5:p.Asp18Glu
ENST00000466528.5:n.80T>G
ENST00000476082.2:c.20T>G	ENSP00000419560.2:p.Ile7Ser
ENST00000480862.1:n.212T>G
ENST00000485313.5:n.162T>G
ENST00000488183.5:n.312T>G
XM_005247412.1:c.54T>G	XP_005247469.1:p.Asp18Glu
XM_005247412.2:c.54T>G	XP_005247469.1:p.Asp18Glu
XM_005247413.1:c.54T>G	XP_005247470.1:p.Asp18Glu
XM_005247413.2:c.54T>G	XP_005247470.1:p.Asp18Glu
XM_005247414.3:c.54T>G	XP_005247471.1:p.Asp18Glu
XM_005247414.5:c.54T>G	XP_005247471.1:p.Asp18Glu
XM_011512746.1:c.54T>G	XP_011511048.1:p.Asp18Glu
XM_011512746.2:c.54T>G	XP_011511048.1:p.Asp18Glu
XM_017006277.2:c.-370T>G	XP_016861766.1:n.-370T>G