Canonical Allele Identifier: CA2560164

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646973C>A , CM000665.2:g.120646973C>A	GRCh38
NC_000003.11:g.120365820C>A , CM000665.1:g.120365820C>A	GRCh37
NC_000003.10:g.121848510C>A	NCBI36
NG_011957.1:g.40509G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.549G>T MANE Select	NP_000178.2:p.Gln183His
ENST00000283871.10:c.549G>T MANE Select	ENSP00000283871.5:p.Gln183His
NM_000187.3:c.549G>T	NP_000178.2:p.Gln183His
ENST00000283871.9:c.549G>T	ENSP00000283871.5:p.Gln183His
ENST00000475447.2:c.80G>T
ENST00000476082.2:c.426G>T	ENSP00000419560.2:p.Gln142His
ENST00000492108.5:c.180G>T	ENSP00000419838.1:p.Gln60His
XM_005247412.1:c.549G>T	XP_005247469.1:p.Gln183His
XM_005247412.2:c.549G>T	XP_005247469.1:p.Gln183His
XM_005247413.1:c.549G>T	XP_005247470.1:p.Gln183His
XM_005247413.2:c.549G>T	XP_005247470.1:p.Gln183His
XM_005247414.3:c.549G>T	XP_005247471.1:p.Gln183His
XM_005247414.5:c.549G>T	XP_005247471.1:p.Gln183His
XM_011512746.1:c.549G>T	XP_011511048.1:p.Gln183His
XM_011512746.2:c.549G>T	XP_011511048.1:p.Gln183His
XM_017006277.2:c.126G>T	XP_016861766.1:p.Gln42His