Canonical Allele Identifier: CA2560081
Gene: HGD HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.120644328A>G
GRCh37 chr3:g.120363175A>G
Revel Score:
ENST00000494453 0.013
gnomAD v2:
3:120363175 A / G
gnomAD v3:
3:120644328 A / G
gnomAD v4:
chr3-120644328-A-G
Joint Max Group AF 0.00005463 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.0000551 (NFE)
ClinVar Allele:
292085
ClinVar RCV:
RCV000387482
ClinVar Variation:
342744
dbSNP:
747764475
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.120644328A>G , CM000665.2:g.120644328A>G GRCh38
NC_000003.11:g.120363175A>G , CM000665.1:g.120363175A>G GRCh37
NC_000003.10:g.121845865A>G NCBI36
NG_011957.1:g.43154T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000283871.10:c.765T>C MANE Select ENSP00000283871.5:p.Ala255=
ENST00000283871.9:c.765T>C ENSP00000283871.5:p.Ala255=
ENST00000475447.2:c.202+270T>C
ENST00000492108.5:c.181-2635T>C ENSP00000419838.1:n.181-2635T>C
ENST00000494453.1:c.185T>C
NM_000187.3:c.765T>C NP_000178.2:p.Ala255=
XM_005247412.1:c.550-2635T>C XP_005247469.1:n.550-2635T>C
XM_005247413.1:c.765T>C XP_005247470.1:p.Ala255=
XM_011512746.1:c.765T>C XP_011511048.1:p.Ala255=
XM_005247412.2:c.550-2635T>C XP_005247469.1:n.550-2635T>C
XM_005247413.2:c.765T>C XP_005247470.1:p.Ala255=
XM_005247414.5:c.*239T>C XP_005247471.1:n.*239T>C
XM_011512746.2:c.765T>C XP_011511048.1:p.Ala255=
XM_017006277.2:c.342T>C XP_016861766.1:p.Ala114=
NM_000187.4:c.765T>C MANE Select NP_000178.2:p.Ala255=
Search 100 bp 5'
Search 100 bp 3'