Canonical Allele Identifier: CA897955893

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120644460C>T , CM000665.2:g.120644460C>T	GRCh38
NC_000003.11:g.120363307C>T , CM000665.1:g.120363307C>T	GRCh37
NC_000003.10:g.121845997C>T	NCBI36
NG_011957.1:g.43022G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.650-17G>A MANE Select	NP_000178.2:n.650-17G>A
ENST00000283871.10:c.650-17G>A MANE Select	ENSP00000283871.5:n.650-17G>A
NM_000187.3:c.650-17G>A	NP_000178.2:n.650-17G>A
ENST00000283871.9:c.650-17G>A	ENSP00000283871.5:n.650-17G>A
ENST00000475447.2:c.202+138G>A
ENST00000492108.5:c.180+2513G>A	ENSP00000419838.1:n.180+2513G>A
ENST00000494453.1:c.70-17G>A
XM_005247412.1:c.549+2513G>A	XP_005247469.1:n.549+2513G>A
XM_005247412.2:c.549+2513G>A	XP_005247469.1:n.549+2513G>A
XM_005247413.1:c.650-17G>A	XP_005247470.1:n.650-17G>A
XM_005247413.2:c.650-17G>A	XP_005247470.1:n.650-17G>A
XM_005247414.3:c.*107G>A	XP_005247471.1:n.*107G>A
XM_005247414.5:c.*107G>A	XP_005247471.1:n.*107G>A
XM_011512746.1:c.650-17G>A	XP_011511048.1:n.650-17G>A
XM_011512746.2:c.650-17G>A	XP_011511048.1:n.650-17G>A
XM_017006277.2:c.227-17G>A	XP_016861766.1:n.227-17G>A