Canonical Allele Identifier: CA277989

Gene: HGD

Linked Data

• ClinVar Variation Id: 189173
• ClinVar RCV Id: RCV000169601
• dbSNP Id: rs562853291
• gnomAD v2: 3-120363266-C-T
• gnomAD v3: 3-120644419-C-T
• gnomAD v4: 3-120644419-C-T
• MyVariant Identifiers: chr3:g.120363266C>T (hg19) ; chr3:g.120644419C>T (hg38)
• PubMed: PMID:9529363 ; PMID:11001939 ; PMID:12872836

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120644419C>T , CM000665.2:g.120644419C>T	GRCh38
NC_000003.11:g.120363266C>T , CM000665.1:g.120363266C>T	GRCh37
NC_000003.10:g.121845956C>T	NCBI36
NG_011957.1:g.43063G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.674G>A MANE Select	ENSP00000283871.5:p.Arg225His
ENST00000283871.9:c.674G>A	ENSP00000283871.5:p.Arg225His
ENST00000475447.2:c.202+179G>A
ENST00000492108.5:c.180+2554G>A	ENSP00000419838.1:n.180+2554G>A
ENST00000494453.1:c.94G>A
NM_000187.3:c.674G>A	NP_000178.2:p.Arg225His
XM_005247412.1:c.549+2554G>A	XP_005247469.1:n.549+2554G>A
XM_005247413.1:c.674G>A	XP_005247470.1:p.Arg225His
XM_011512746.1:c.674G>A	XP_011511048.1:p.Arg225His
XM_005247412.2:c.549+2554G>A	XP_005247469.1:n.549+2554G>A
XM_005247413.2:c.674G>A	XP_005247470.1:p.Arg225His
XM_005247414.5:c.*148G>A	XP_005247471.1:n.*148G>A
XM_011512746.2:c.674G>A	XP_011511048.1:p.Arg225His
XM_017006277.2:c.251G>A	XP_016861766.1:p.Arg84His
NM_000187.4:c.674G>A MANE Select	NP_000178.2:p.Arg225His