Canonical Allele Identifier: CA2560009

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638499C>T , CM000665.2:g.120638499C>T	GRCh38
NC_000003.11:g.120357346C>T , CM000665.1:g.120357346C>T	GRCh37
NC_000003.10:g.121840036C>T	NCBI36
NG_011957.1:g.48983G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.962G>A MANE Select	NP_000178.2:p.Arg321Gln
ENST00000283871.10:c.962G>A MANE Select	ENSP00000283871.5:p.Arg321Gln
NM_000187.3:c.962G>A	NP_000178.2:p.Arg321Gln
ENST00000283871.9:c.962G>A	ENSP00000283871.5:p.Arg321Gln
ENST00000470321.1:n.302G>A
ENST00000475447.2:c.307+3090G>A
ENST00000492108.5:c.285+3090G>A	ENSP00000419838.1:n.285+3090G>A
ENST00000494453.1:c.382G>A
XM_005247412.1:c.737G>A	XP_005247469.1:p.Arg246Gln
XM_005247412.2:c.737G>A	XP_005247469.1:p.Arg246Gln
XM_005247413.1:c.962G>A	XP_005247470.1:p.Arg321Gln
XM_005247413.2:c.962G>A	XP_005247470.1:p.Arg321Gln
XM_011512746.1:c.879+3090G>A	XP_011511048.1:n.879+3090G>A
XM_011512746.2:c.879+3090G>A	XP_011511048.1:n.879+3090G>A
XM_017006277.2:c.539G>A	XP_016861766.1:p.Arg180Gln