Canonical Allele Identifier: CA2560335

Gene: HGD

Linked Data

• ClinVar Variation Id: 370939
• ClinVar RCV Id: RCV000412076 ; RCV001726153
• dbSNP Id: rs200808744
• ExAC: 3:120393766 C / T
• gnomAD v2: 3-120393766-C-T
• gnomAD v3: 3-120674919-C-T
• gnomAD v4: 3-120674919-C-T
• COSMIC: COSM232479
• MyVariant Identifiers: chr3:g.120393766C>T (hg19) ; chr3:g.120674919C>T (hg38)
• PubMed: PMID:25681086 ; PMID:25804398

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674919C>T , CM000665.2:g.120674919C>T	GRCh38
NC_000003.11:g.120393766C>T , CM000665.1:g.120393766C>T	GRCh37
NC_000003.10:g.121876456C>T	NCBI36
NG_011957.1:g.12563G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.158G>A MANE Select	ENSP00000283871.5:p.Arg53Gln
ENST00000283871.9:c.158G>A	ENSP00000283871.5:p.Arg53Gln
ENST00000466528.5:n.184G>A
ENST00000476082.2:c.53+873G>A	ENSP00000419560.2:n.53+873G>A
ENST00000480862.1:n.316G>A
ENST00000485313.5:n.266G>A
ENST00000488183.5:n.416G>A
NM_000187.3:c.158G>A	NP_000178.2:p.Arg53Gln
XM_005247412.1:c.158G>A	XP_005247469.1:p.Arg53Gln
XM_005247413.1:c.158G>A	XP_005247470.1:p.Arg53Gln
XM_005247414.3:c.158G>A	XP_005247471.1:p.Arg53Gln
XM_011512746.1:c.158G>A	XP_011511048.1:p.Arg53Gln
XM_005247412.2:c.158G>A	XP_005247469.1:p.Arg53Gln
XM_005247413.2:c.158G>A	XP_005247470.1:p.Arg53Gln
XM_005247414.5:c.158G>A	XP_005247471.1:p.Arg53Gln
XM_011512746.2:c.158G>A	XP_011511048.1:p.Arg53Gln
XM_017006277.2:c.-266G>A	XP_016861766.1:n.-266G>A
NM_000187.4:c.158G>A MANE Select	NP_000178.2:p.Arg53Gln