Canonical Allele Identifier: CA2560044

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641595G>T , CM000665.2:g.120641595G>T	GRCh38
NC_000003.11:g.120360442G>T , CM000665.1:g.120360442G>T	GRCh37
NC_000003.10:g.121843132G>T	NCBI36
NG_011957.1:g.45887C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.873C>A MANE Select	NP_000178.2:p.Asp291Glu
ENST00000283871.10:c.873C>A MANE Select	ENSP00000283871.5:p.Asp291Glu
NM_000187.3:c.873C>A	NP_000178.2:p.Asp291Glu
ENST00000283871.9:c.873C>A	ENSP00000283871.5:p.Asp291Glu
ENST00000470321.1:n.213C>A
ENST00000475447.2:c.301C>A
ENST00000492108.5:c.279C>A	ENSP00000419838.1:p.Asp93Glu
ENST00000494453.1:c.293C>A
XM_005247412.1:c.648C>A	XP_005247469.1:p.Asp216Glu
XM_005247412.2:c.648C>A	XP_005247469.1:p.Asp216Glu
XM_005247413.1:c.873C>A	XP_005247470.1:p.Asp291Glu
XM_005247413.2:c.873C>A	XP_005247470.1:p.Asp291Glu
XM_011512746.1:c.873C>A	XP_011511048.1:p.Asp291Glu
XM_011512746.2:c.873C>A	XP_011511048.1:p.Asp291Glu
XM_017006277.2:c.450C>A	XP_016861766.1:p.Asp150Glu