Canonical Allele Identifier: CA354082091

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674950G>C , CM000665.2:g.120674950G>C	GRCh38
NC_000003.11:g.120393797G>C , CM000665.1:g.120393797G>C	GRCh37
NC_000003.10:g.121876487G>C	NCBI36
NG_011957.1:g.12532C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.127C>G MANE Select	NP_000178.2:p.Gln43Glu
ENST00000283871.10:c.127C>G MANE Select	ENSP00000283871.5:p.Gln43Glu
NM_000187.3:c.127C>G	NP_000178.2:p.Gln43Glu
ENST00000283871.9:c.127C>G	ENSP00000283871.5:p.Gln43Glu
ENST00000466528.5:n.153C>G
ENST00000476082.2:c.53+842C>G	ENSP00000419560.2:n.53+842C>G
ENST00000480862.1:n.285C>G
ENST00000485313.5:n.235C>G
ENST00000488183.5:n.385C>G
XM_005247412.1:c.127C>G	XP_005247469.1:p.Gln43Glu
XM_005247412.2:c.127C>G	XP_005247469.1:p.Gln43Glu
XM_005247413.1:c.127C>G	XP_005247470.1:p.Gln43Glu
XM_005247413.2:c.127C>G	XP_005247470.1:p.Gln43Glu
XM_005247414.3:c.127C>G	XP_005247471.1:p.Gln43Glu
XM_005247414.5:c.127C>G	XP_005247471.1:p.Gln43Glu
XM_011512746.1:c.127C>G	XP_011511048.1:p.Gln43Glu
XM_011512746.2:c.127C>G	XP_011511048.1:p.Gln43Glu
XM_017006277.2:c.-297C>G	XP_016861766.1:n.-297C>G