Canonical Allele Identifier: CA354073814

Gene: HGD

Linked Data

• gnomAD v4: 3-120638582-C-A
• MyVariant Identifiers: chr3:g.120357429C>A (hg19) ; chr3:g.120638582C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638582C>A , CM000665.2:g.120638582C>A	GRCh38
NC_000003.11:g.120357429C>A , CM000665.1:g.120357429C>A	GRCh37
NC_000003.10:g.121840119C>A	NCBI36
NG_011957.1:g.48900G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.880-1G>T MANE Select	ENSP00000283871.5:n.880-1G>T
ENST00000283871.9:c.880-1G>T	ENSP00000283871.5:n.880-1G>T
ENST00000470321.1:n.220-1G>T
ENST00000475447.2:c.307+3007G>T
ENST00000492108.5:c.285+3007G>T	ENSP00000419838.1:n.285+3007G>T
ENST00000494453.1:c.300-1G>T
NM_000187.3:c.880-1G>T	NP_000178.2:n.880-1G>T
XM_005247412.1:c.655-1G>T	XP_005247469.1:n.655-1G>T
XM_005247413.1:c.880-1G>T	XP_005247470.1:n.880-1G>T
XM_011512746.1:c.879+3007G>T	XP_011511048.1:n.879+3007G>T
XM_005247412.2:c.655-1G>T	XP_005247469.1:n.655-1G>T
XM_005247413.2:c.880-1G>T	XP_005247470.1:n.880-1G>T
XM_011512746.2:c.879+3007G>T	XP_011511048.1:n.879+3007G>T
XM_017006277.2:c.457-1G>T	XP_016861766.1:n.457-1G>T
NM_000187.4:c.880-1G>T MANE Select	NP_000178.2:n.880-1G>T