Canonical Allele Identifier: CA354082870

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120675827C>G , CM000665.2:g.120675827C>G	GRCh38
NC_000003.11:g.120394674C>G , CM000665.1:g.120394674C>G	GRCh37
NC_000003.10:g.121877364C>G	NCBI36
NG_011957.1:g.11655G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.52G>C MANE Select	NP_000178.2:p.Asp18His
ENST00000283871.10:c.52G>C MANE Select	ENSP00000283871.5:p.Asp18His
NM_000187.3:c.52G>C	NP_000178.2:p.Asp18His
ENST00000283871.9:c.52G>C	ENSP00000283871.5:p.Asp18His
ENST00000466528.5:n.78G>C
ENST00000476082.2:c.18G>C	ENSP00000419560.2:p.Arg6Ser
ENST00000480862.1:n.210G>C
ENST00000485313.5:n.160G>C
ENST00000488183.5:n.310G>C
XM_005247412.1:c.52G>C	XP_005247469.1:p.Asp18His
XM_005247412.2:c.52G>C	XP_005247469.1:p.Asp18His
XM_005247413.1:c.52G>C	XP_005247470.1:p.Asp18His
XM_005247413.2:c.52G>C	XP_005247470.1:p.Asp18His
XM_005247414.3:c.52G>C	XP_005247471.1:p.Asp18His
XM_005247414.5:c.52G>C	XP_005247471.1:p.Asp18His
XM_011512746.1:c.52G>C	XP_011511048.1:p.Asp18His
XM_011512746.2:c.52G>C	XP_011511048.1:p.Asp18His
XM_017006277.2:c.-372G>C	XP_016861766.1:n.-372G>C