Canonical Allele Identifier: CA1397093164

Gene: HGD

Linked Data

• dbSNP Id: rs574281428
• gnomAD v4: 3-120638658-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638658A>T , CM000665.2:g.120638658A>T	GRCh38
NC_000003.11:g.120357505A>T , CM000665.1:g.120357505A>T	GRCh37
NC_000003.10:g.121840195A>T	NCBI36
NG_011957.1:g.48824T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.880-77T>A MANE Select	ENSP00000283871.5:n.880-77T>A
ENST00000283871.9:c.880-77T>A	ENSP00000283871.5:n.880-77T>A
ENST00000470321.1:n.220-77T>A
ENST00000475447.2:c.307+2931T>A
ENST00000492108.5:c.285+2931T>A	ENSP00000419838.1:n.285+2931T>A
ENST00000494453.1:c.300-77T>A
NM_000187.3:c.880-77T>A	NP_000178.2:n.880-77T>A
XM_005247412.1:c.655-77T>A	XP_005247469.1:n.655-77T>A
XM_005247413.1:c.880-77T>A	XP_005247470.1:n.880-77T>A
XM_011512746.1:c.879+2931T>A	XP_011511048.1:n.879+2931T>A
XM_005247412.2:c.655-77T>A	XP_005247469.1:n.655-77T>A
XM_005247413.2:c.880-77T>A	XP_005247470.1:n.880-77T>A
XM_011512746.2:c.879+2931T>A	XP_011511048.1:n.879+2931T>A
XM_017006277.2:c.457-77T>A	XP_016861766.1:n.457-77T>A
NM_000187.4:c.880-77T>A MANE Select	NP_000178.2:n.880-77T>A