Canonical Allele Identifier: CA340049

Gene: HGD

Linked Data

• ClinVar Variation Id: 3175
• ClinVar RCV Id: RCV000003325
• dbSNP Id: rs120074174
• ExAC: 3:120360507 C / T
• gnomAD v2: 3-120360507-C-T
• gnomAD v3: 3-120641660-C-T
• gnomAD v4: 3-120641660-C-T
• MyVariant Identifiers: chr3:g.120360507C>T (hg19) ; chr3:g.120641660C>T (hg38)
• PubMed: PMID:10482952 ; PMID:11001939 ; PMID:12872815 ; PMID:20301627

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641660C>T , CM000665.2:g.120641660C>T	GRCh38
NC_000003.11:g.120360507C>T , CM000665.1:g.120360507C>T	GRCh37
NC_000003.10:g.121843197C>T	NCBI36
NG_011957.1:g.45822G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.808G>A MANE Select	ENSP00000283871.5:p.Gly270Arg
ENST00000283871.9:c.808G>A	ENSP00000283871.5:p.Gly270Arg
ENST00000470321.1:n.148G>A
ENST00000475447.2:c.236G>A
ENST00000492108.5:c.214G>A	ENSP00000419838.1:p.Gly72Arg
ENST00000494453.1:c.228G>A
NM_000187.3:c.808G>A	NP_000178.2:p.Gly270Arg
XM_005247412.1:c.583G>A	XP_005247469.1:p.Gly195Arg
XM_005247413.1:c.808G>A	XP_005247470.1:p.Gly270Arg
XM_011512746.1:c.808G>A	XP_011511048.1:p.Gly270Arg
XM_005247412.2:c.583G>A	XP_005247469.1:p.Gly195Arg
XM_005247413.2:c.808G>A	XP_005247470.1:p.Gly270Arg
XM_011512746.2:c.808G>A	XP_011511048.1:p.Gly270Arg
XM_017006277.2:c.385G>A	XP_016861766.1:p.Gly129Arg
NM_000187.4:c.808G>A MANE Select	NP_000178.2:p.Gly270Arg