Canonical Allele Identifier: CA354076811

Gene: HGD

Linked Data

• ClinVar Variation Id: 556003
• ClinVar RCV Id: RCV000671938
• dbSNP Id: rs756255206
• gnomAD v4: 3-120646357-G-C
• MyVariant Identifiers: chr3:g.120365204G>C (hg19) ; chr3:g.120646357G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646357G>C , CM000665.2:g.120646357G>C	GRCh38
NC_000003.11:g.120365204G>C , CM000665.1:g.120365204G>C	GRCh37
NC_000003.10:g.121847894G>C	NCBI36
NG_011957.1:g.41125C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.559C>G MANE Select	ENSP00000283871.5:p.Arg187Gly
ENST00000283871.9:c.559C>G	ENSP00000283871.5:p.Arg187Gly
ENST00000475447.2:c.90C>G
ENST00000492108.5:c.180+616C>G	ENSP00000419838.1:n.180+616C>G
NM_000187.3:c.559C>G	NP_000178.2:p.Arg187Gly
XM_005247412.1:c.549+616C>G	XP_005247469.1:n.549+616C>G
XM_005247413.1:c.559C>G	XP_005247470.1:p.Arg187Gly
XM_005247414.3:c.559C>G	XP_005247471.1:p.Arg187Gly
XM_011512746.1:c.559C>G	XP_011511048.1:p.Arg187Gly
XM_005247412.2:c.549+616C>G	XP_005247469.1:n.549+616C>G
XM_005247413.2:c.559C>G	XP_005247470.1:p.Arg187Gly
XM_005247414.5:c.559C>G	XP_005247471.1:p.Arg187Gly
XM_011512746.2:c.559C>G	XP_011511048.1:p.Arg187Gly
XM_017006277.2:c.136C>G	XP_016861766.1:p.Arg46Gly
NM_000187.4:c.559C>G MANE Select	NP_000178.2:p.Arg187Gly