Canonical Allele Identifier: CA2560335
Gene: HGD HGNC NCBI
COSMIC:
COSM232479
MyVariant.info:
GRCh38 chr3:g.120674919C>T
GRCh37 chr3:g.120393766C>T
Revel Score:
ENST00000283871 (MANE Select) 0.916
gnomAD v2:
3:120393766 C / T
gnomAD v3:
3:120674919 C / T
gnomAD v4:
chr3-120674919-C-T
Joint Max Group AF 0.00002401 (NFE)
Genomes Max Group AF 0.00002847 (NFE)
Exomes Max Group AF 0.00002195 (SAS)
ClinVar RCV:
RCV000412076
RCV001726153
ClinVar Variation:
370939
dbSNP:
200808744
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'