Canonical Allele Identifier: CA354076947

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646989T>C , CM000665.2:g.120646989T>C	GRCh38
NC_000003.11:g.120365836T>C , CM000665.1:g.120365836T>C	GRCh37
NC_000003.10:g.121848526T>C	NCBI36
NG_011957.1:g.40493A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.533A>G MANE Select	NP_000178.2:p.Glu178Gly
ENST00000283871.10:c.533A>G MANE Select	ENSP00000283871.5:p.Glu178Gly
NM_000187.3:c.533A>G	NP_000178.2:p.Glu178Gly
ENST00000283871.9:c.533A>G	ENSP00000283871.5:p.Glu178Gly
ENST00000475447.2:c.64A>G
ENST00000476082.2:c.410A>G	ENSP00000419560.2:p.Glu137Gly
ENST00000492108.5:c.164A>G	ENSP00000419838.1:p.Glu55Gly
XM_005247412.1:c.533A>G	XP_005247469.1:p.Glu178Gly
XM_005247412.2:c.533A>G	XP_005247469.1:p.Glu178Gly
XM_005247413.1:c.533A>G	XP_005247470.1:p.Glu178Gly
XM_005247413.2:c.533A>G	XP_005247470.1:p.Glu178Gly
XM_005247414.3:c.533A>G	XP_005247471.1:p.Glu178Gly
XM_005247414.5:c.533A>G	XP_005247471.1:p.Glu178Gly
XM_011512746.1:c.533A>G	XP_011511048.1:p.Glu178Gly
XM_011512746.2:c.533A>G	XP_011511048.1:p.Glu178Gly
XM_017006277.2:c.110A>G	XP_016861766.1:p.Glu37Gly