Canonical Allele Identifier: CA1397093156

Gene: HGD

Linked Data

• dbSNP Id: rs1940863041
• gnomAD v4: 3-120638638-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638638G>C , CM000665.2:g.120638638G>C	GRCh38
NC_000003.11:g.120357485G>C , CM000665.1:g.120357485G>C	GRCh37
NC_000003.10:g.121840175G>C	NCBI36
NG_011957.1:g.48844C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.880-57C>G MANE Select	ENSP00000283871.5:n.880-57C>G
ENST00000283871.9:c.880-57C>G	ENSP00000283871.5:n.880-57C>G
ENST00000470321.1:n.220-57C>G
ENST00000475447.2:c.307+2951C>G
ENST00000492108.5:c.285+2951C>G	ENSP00000419838.1:n.285+2951C>G
ENST00000494453.1:c.300-57C>G
NM_000187.3:c.880-57C>G	NP_000178.2:n.880-57C>G
XM_005247412.1:c.655-57C>G	XP_005247469.1:n.655-57C>G
XM_005247413.1:c.880-57C>G	XP_005247470.1:n.880-57C>G
XM_011512746.1:c.879+2951C>G	XP_011511048.1:n.879+2951C>G
XM_005247412.2:c.655-57C>G	XP_005247469.1:n.655-57C>G
XM_005247413.2:c.880-57C>G	XP_005247470.1:n.880-57C>G
XM_011512746.2:c.879+2951C>G	XP_011511048.1:n.879+2951C>G
XM_017006277.2:c.457-57C>G	XP_016861766.1:n.457-57C>G
NM_000187.4:c.880-57C>G MANE Select	NP_000178.2:n.880-57C>G