Canonical Allele Identifier: CA81784084

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641709A>T , CM000665.2:g.120641709A>T	GRCh38
NC_000003.11:g.120360556A>T , CM000665.1:g.120360556A>T	GRCh37
NC_000003.10:g.121843246A>T	NCBI36
NG_011957.1:g.45773T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.775-16T>A MANE Select	NP_000178.2:n.775-16T>A
ENST00000283871.10:c.775-16T>A MANE Select	ENSP00000283871.5:n.775-16T>A
NM_000187.3:c.775-16T>A	NP_000178.2:n.775-16T>A
ENST00000283871.9:c.775-16T>A	ENSP00000283871.5:n.775-16T>A
ENST00000470321.1:n.99T>A
ENST00000475447.2:c.203-16T>A
ENST00000492108.5:c.181-16T>A	ENSP00000419838.1:n.181-16T>A
ENST00000494453.1:c.195-16T>A
XM_005247412.1:c.550-16T>A	XP_005247469.1:n.550-16T>A
XM_005247412.2:c.550-16T>A	XP_005247469.1:n.550-16T>A
XM_005247413.1:c.775-16T>A	XP_005247470.1:n.775-16T>A
XM_005247413.2:c.775-16T>A	XP_005247470.1:n.775-16T>A
XM_011512746.1:c.775-16T>A	XP_011511048.1:n.775-16T>A
XM_011512746.2:c.775-16T>A	XP_011511048.1:n.775-16T>A
XM_017006277.2:c.352-16T>A	XP_016861766.1:n.352-16T>A