{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4350806",
  "communityStandardTitle": [
    "NM_000940.3(PON3):c.94C>T (p.Arg32Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM1093344"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=481797[alleleid]",
        "alleleId": 481797,
        "preferredName": "NM_000940.3(PON3):c.94C>T (p.Arg32Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/488870",
        "RCV": [
          "RCV000579077",
          "RCV000766322",
          "RCV001095523"
        ],
        "variationId": 488870
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-95024007-G-A",
        "id": "7-95024007-G-A",
        "variant": "7:95024007 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.95024007G>A?assembly=hg19",
        "id": "chr7:g.95024007G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.95394695G>A?assembly=hg38",
        "id": "chr7:g.95394695G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/147006695",
        "rs": 147006695
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-95024007-G-A?dataset=gnomad_r2_1",
        "id": "7-95024007-G-A",
        "variant": "7:95024007 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-95394695-G-A?dataset=gnomad_r3",
        "id": "7-95394695-G-A",
        "variant": "7:95394695 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-95394695-G-A?dataset=gnomad_r4",
        "id": "7-95394695-G-A",
        "variant": "7:95394695 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 95394695,
          "referenceAllele": "G",
          "start": 95394694
        }
      ],
      "hgvs": [
        "NC_000007.14:g.95394695G>A",
        "CM000669.2:g.95394695G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 95024007,
          "referenceAllele": "G",
          "start": 95024006
        }
      ],
      "hgvs": [
        "NC_000007.13:g.95024007G>A",
        "CM000669.1:g.95024007G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 94861943,
          "referenceAllele": "G",
          "start": 94861942
        }
      ],
      "hgvs": [
        "NC_000007.12:g.94861943G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6681,
          "referenceAllele": "C",
          "start": 6680
        }
      ],
      "hgvs": [
        "NG_008726.1:g.6681C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001184"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 119,
          "referenceAllele": "C",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009206",
      "geneNCBI_id": 5446,
      "geneSymbol": "PON3",
      "hgvs": [
        "ENST00000265627.10:c.94C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265627.5:p.Arg32Ter",
        "hgvsWellDefined": "ENSP00000265627.5:p.Arg32_Leu354delinsGluValGluProValGluProGluAsnCysHisLeuIleGluGluLeuGluSerGlySerGluAspIleAspIleLeuProSerGlyLeuAlaPheIleSerSerGlyLeuLysTyrProGlyMetProAsnPheAlaProAspGluProGlyLysIlePheLeuMetAspLeuAsnGluGlnAsnProArgAlaGlnAlaLeuGluIleSerGlyGlyPheAspLysGluLeuPheAsnProHisGlyIleSerIlePheIleAspLysAspAsnThrValTyrLeuTyrValValAsnHisProHisMetLysSerThrValGluIlePheLysPheGluGluGlnGlnArgSerLeuValTyrLeuLysThrIleLysHisGluLeuLeuLysSerValAsnAspIleValValLeuGlyProGluGlnPheTyrAlaThrArgAspHisTyrPheThrAsnSerLeuLeuSerPhePheGluMetIleLeuAspLeuArgTrpThrTyrValLeuPheTyrSerProArgGluValLysValValAlaLysGlyPheCysSerAlaAsnGlyIleThrValSerAlaAspGlnLysTyrValTyrValAlaAspValAlaAlaLysAsnIleHisIleMetGluLysHisAspAsnTrpAspLeuThrGlnLeuLysValIleGlnLeuGlyThrLeuValAspAsnLeuThrValAspProAlaThrGlyAspIleLeuAlaGlyCysHisProAsnProMetLysLeuLeuAsnTyrAsnProGluAspProProGlySerGluValLeuArgIleGlnAsnValLeuSerGluLysProArgValSerThrValTyrAlaAsnAsnGlySerValLeuGlnGlyThrSerValAlaSerValTyrHisGlyLysIleLeuIleGlyThrValPheHisLysThrLeuTyrCysGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742860",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265627.10:c.94C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000940.3:c.94C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265627.5:p.Arg32Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000931.1:p.Arg32Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 105,
          "referenceAllele": "C",
          "start": 104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009206",
      "geneNCBI_id": 5446,
      "geneSymbol": "PON3",
      "hgvs": [
        "ENST00000265627.9:c.94C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265627.5:p.Arg32Ter",
        "hgvsWellDefined": "ENSP00000265627.5:p.Arg32_Leu354delinsGluValGluProValGluProGluAsnCysHisLeuIleGluGluLeuGluSerGlySerGluAspIleAspIleLeuProSerGlyLeuAlaPheIleSerSerGlyLeuLysTyrProGlyMetProAsnPheAlaProAspGluProGlyLysIlePheLeuMetAspLeuAsnGluGlnAsnProArgAlaGlnAlaLeuGluIleSerGlyGlyPheAspLysGluLeuPheAsnProHisGlyIleSerIlePheIleAspLysAspAsnThrValTyrLeuTyrValValAsnHisProHisMetLysSerThrValGluIlePheLysPheGluGluGlnGlnArgSerLeuValTyrLeuLysThrIleLysHisGluLeuLeuLysSerValAsnAspIleValValLeuGlyProGluGlnPheTyrAlaThrArgAspHisTyrPheThrAsnSerLeuLeuSerPhePheGluMetIleLeuAspLeuArgTrpThrTyrValLeuPheTyrSerProArgGluValLysValValAlaLysGlyPheCysSerAlaAsnGlyIleThrValSerAlaAspGlnLysTyrValTyrValAlaAspValAlaAlaLysAsnIleHisIleMetGluLysHisAspAsnTrpAspLeuThrGlnLeuLysValIleGlnLeuGlyThrLeuValAspAsnLeuThrValAspProAlaThrGlyAspIleLeuAlaGlyCysHisProAsnProMetLysLeuLeuAsnTyrAsnProGluAspProProGlySerGluValLeuArgIleGlnAsnValLeuSerGluLysProArgValSerThrValTyrAlaAsnAsnGlySerValLeuGlnGlyThrSerValAlaSerValTyrHisGlyLysIleLeuIleGlyThrValPheHisLysThrLeuTyrCysGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 129,
          "referenceAllele": "C",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009206",
      "geneNCBI_id": 5446,
      "geneSymbol": "PON3",
      "hgvs": [
        "ENST00000418617.5:c.116C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393174.1:p.Ser39Leu",
        "hgvsWellDefined": "ENSP00000393174.1:p.Ser39Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 105,
          "referenceAllele": "C",
          "start": 104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009206",
      "geneNCBI_id": 5446,
      "geneSymbol": "PON3",
      "hgvs": [
        "ENST00000427422.5:c.94C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413276.1:p.Arg32Ter",
        "hgvsWellDefined": "ENSP00000413276.1:p.Arg32_Gly245delinsGluValGluProValGluProGluAsnCysHisLeuIleGluGluLeuGluSerGlySerGluAspIleAspIleLeuProSerGlyLeuAlaPheIleSerSerGlyLeuLysTyrProGlyMetProAsnPheAlaProAspGluProGlyLysIlePheLeuMetAspLeuAsnGluGlnAsnProArgAlaGlnAlaLeuGluIleSerGlyGlyPheAspLysGluLeuPheAsnProHisGlyIleSerIlePheIleAspLysAspAsnThrValTyrLeuTyrValValAsnHisProHisMetLysSerThrValGluIlePheLysPheGluGluGlnGlnArgSerLeuValTyrLeuLysThrIleLysHisGluLeuLeuLysSerValAsnAspIleValValLeuGlyProGluGlnPheTyrAlaThrArgAspHisTyrPheThrAsnSerLeuLeuSerPhePheGluMetIleLeuAspLeuArgTrpThrTyrValLeuPheTyrSerProArgGluValLysValValAlaLysGlyPheCysSerAlaAsnGlyIleThrValSerAlaAspGlnLysTyrPheAlaSerArgMetPheCysLeuArgSerProGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 129,
          "referenceAllele": "C",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009206",
      "geneNCBI_id": 5446,
      "geneSymbol": "PON3",
      "hgvs": [
        "ENST00000442770.5:c.116C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390253.1:p.Ser39Leu",
        "hgvsWellDefined": "ENSP00000390253.1:p.Ser39Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297034"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 107,
          "referenceAllele": "C",
          "start": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009206",
      "geneNCBI_id": 5446,
      "geneSymbol": "PON3",
      "hgvs": [
        "ENST00000451904.5:c.94C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403850.1:p.Arg32Ter",
        "hgvsWellDefined": "ENSP00000403850.1:p.Arg32_Leu270delinsGluValGluProValGluProGluAsnCysHisLeuIleGluGluLeuGluSerGlySerGluAspIleAspIleLeuProSerGlyLeuAlaPheIleSerSerGlyLeuLysTyrProGlyMetProAsnPheAlaProAspGluProGlyLysIlePheLeuMetAspLeuAsnGluGlnAsnProArgAlaGlnAlaLeuGluIleSerGlyGlyPheAspLysGluLeuPheAsnProHisGlyIleSerIlePheIleAspLysAspAsnThrValTyrLeuTyrValValAsnHisProHisMetLysSerThrValGluIlePheLysPheGluGluGlnGlnArgSerLeuValTyrLeuLysThrIleLysHisGluLeuLeuLysSerValAsnAspIleValValLeuGlyProGluGlnPheTyrAlaThrArgAspHisTyrPheThrAsnSerLeuLeuSerPhePheGluMetIleLeuAspLeuArgTrpThrTyrValLeuPheTyrSerProArgGluValLysValValAlaLysGlyPheCysSerAlaAsnGlyIleThrValSerAlaAspGlnLysTyrValTyrValAlaAspValAlaAlaLysAsnIleHisIleMetGluLysHisAspAsnTrpAspLeuThrGlnLeuLysGluThrPheTrpGlnAspAlaIleLeuIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301381"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 107,
          "referenceAllele": "C",
          "start": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009206",
      "geneNCBI_id": 5446,
      "geneSymbol": "PON3",
      "hgvs": [
        "ENST00000456855.5:c.94C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391072.1:p.Arg32Ter",
        "hgvsWellDefined": "ENSP00000391072.1:p.Arg32_Arg61delinsGluValGluProValGluProGluAsnCysHisLeuIleGluGluLeuGlyIleLysIleSerArgHisAlaLysLeuCysAlaArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 282,
          "referenceAllele": "C",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009206",
      "geneNCBI_id": 5446,
      "geneSymbol": "PON3",
      "hgvs": [
        "ENST00000475439.1:n.282C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 112,
          "referenceAllele": "C",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009206",
      "geneNCBI_id": 5446,
      "geneSymbol": "PON3",
      "hgvs": [
        "ENST00000482624.5:n.112C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658711851",
      "coordinates": [
        {
          "allele": "T",
          "end": 119,
          "referenceAllele": "C",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009206",
      "geneNCBI_id": 5446,
      "geneSymbol": "PON3",
      "hgvs": [
        "NM_000940.2:c.94C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000931.1:p.Arg32Ter",
        "hgvsWellDefined": "NP_000931.1:p.Arg32_Leu354delinsGluValGluProValGluProGluAsnCysHisLeuIleGluGluLeuGluSerGlySerGluAspIleAspIleLeuProSerGlyLeuAlaPheIleSerSerGlyLeuLysTyrProGlyMetProAsnPheAlaProAspGluProGlyLysIlePheLeuMetAspLeuAsnGluGlnAsnProArgAlaGlnAlaLeuGluIleSerGlyGlyPheAspLysGluLeuPheAsnProHisGlyIleSerIlePheIleAspLysAspAsnThrValTyrLeuTyrValValAsnHisProHisMetLysSerThrValGluIlePheLysPheGluGluGlnGlnArgSerLeuValTyrLeuLysThrIleLysHisGluLeuLeuLysSerValAsnAspIleValValLeuGlyProGluGlnPheTyrAlaThrArgAspHisTyrPheThrAsnSerLeuLeuSerPhePheGluMetIleLeuAspLeuArgTrpThrTyrValLeuPheTyrSerProArgGluValLysValValAlaLysGlyPheCysSerAlaAsnGlyIleThrValSerAlaAspGlnLysTyrValTyrValAlaAspValAlaAlaLysAsnIleHisIleMetGluLysHisAspAsnTrpAspLeuThrGlnLeuLysValIleGlnLeuGlyThrLeuValAspAsnLeuThrValAspProAlaThrGlyAspIleLeuAlaGlyCysHisProAsnProMetLysLeuLeuAsnTyrAsnProGluAspProProGlySerGluValLeuArgIleGlnAsnValLeuSerGluLysProArgValSerThrValTyrAlaAsnAsnGlySerValLeuGlnGlyThrSerValAlaSerValTyrHisGlyLysIleLeuIleGlyThrValPheHisLysThrLeuTyrCysGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658711851",
      "coordinates": [
        {
          "allele": "T",
          "end": 119,
          "referenceAllele": "C",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009206",
      "geneNCBI_id": 5446,
      "geneSymbol": "PON3",
      "hgvs": [
        "NM_000940.3:c.94C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000931.1:p.Arg32Ter",
        "hgvsWellDefined": "NP_000931.1:p.Arg32_Leu354delinsGluValGluProValGluProGluAsnCysHisLeuIleGluGluLeuGluSerGlySerGluAspIleAspIleLeuProSerGlyLeuAlaPheIleSerSerGlyLeuLysTyrProGlyMetProAsnPheAlaProAspGluProGlyLysIlePheLeuMetAspLeuAsnGluGlnAsnProArgAlaGlnAlaLeuGluIleSerGlyGlyPheAspLysGluLeuPheAsnProHisGlyIleSerIlePheIleAspLysAspAsnThrValTyrLeuTyrValValAsnHisProHisMetLysSerThrValGluIlePheLysPheGluGluGlnGlnArgSerLeuValTyrLeuLysThrIleLysHisGluLeuLeuLysSerValAsnAspIleValValLeuGlyProGluGlnPheTyrAlaThrArgAspHisTyrPheThrAsnSerLeuLeuSerPhePheGluMetIleLeuAspLeuArgTrpThrTyrValLeuPheTyrSerProArgGluValLysValValAlaLysGlyPheCysSerAlaAsnGlyIleThrValSerAlaAspGlnLysTyrValTyrValAlaAspValAlaAlaLysAsnIleHisIleMetGluLysHisAspAsnTrpAspLeuThrGlnLeuLysValIleGlnLeuGlyThrLeuValAspAsnLeuThrValAspProAlaThrGlyAspIleLeuAlaGlyCysHisProAsnProMetLysLeuLeuAsnTyrAsnProGluAspProProGlySerGluValLeuArgIleGlnAsnValLeuSerGluLysProArgValSerThrValTyrAlaAsnAsnGlySerValLeuGlnGlyThrSerValAlaSerValTyrHisGlyLysIleLeuIleGlyThrValPheHisLysThrLeuTyrCysGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662656",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265627.10:c.94C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000940.3:c.94C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265627.5:p.Arg32Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000931.1:p.Arg32Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}