Canonical Allele Identifier: CA2560078

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120644320T>G , CM000665.2:g.120644320T>G	GRCh38
NC_000003.11:g.120363167T>G , CM000665.1:g.120363167T>G	GRCh37
NC_000003.10:g.121845857T>G	NCBI36
NG_011957.1:g.43162A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.773A>C MANE Select	NP_000178.2:p.Gln258Pro
ENST00000283871.10:c.773A>C MANE Select	ENSP00000283871.5:p.Gln258Pro
NM_000187.3:c.773A>C	NP_000178.2:p.Gln258Pro
ENST00000283871.9:c.773A>C	ENSP00000283871.5:p.Gln258Pro
ENST00000475447.2:c.202+278A>C
ENST00000492108.5:c.181-2627A>C	ENSP00000419838.1:n.181-2627A>C
ENST00000494453.1:c.193A>C
XM_005247412.1:c.550-2627A>C	XP_005247469.1:n.550-2627A>C
XM_005247412.2:c.550-2627A>C	XP_005247469.1:n.550-2627A>C
XM_005247413.1:c.773A>C	XP_005247470.1:p.Gln258Pro
XM_005247413.2:c.773A>C	XP_005247470.1:p.Gln258Pro
XM_005247414.5:c.*247A>C	XP_005247471.1:n.*247A>C
XM_011512746.1:c.773A>C	XP_011511048.1:p.Gln258Pro
XM_011512746.2:c.773A>C	XP_011511048.1:p.Gln258Pro
XM_017006277.2:c.350A>C	XP_016861766.1:p.Gln117Pro