{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA345539",
  "communityStandardTitle": [
    "NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=134470[alleleid]",
        "alleleId": 134470,
        "preferredName": "NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/129024",
        "RCV": [
          "RCV000117005",
          "RCV000825519",
          "RCV001200535"
        ],
        "variationId": 129024
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-37784804-C-A",
        "id": "9-37784804-C-A",
        "variant": "9:37784804 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.37784804C>A?assembly=hg19",
        "id": "chr9:g.37784804C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.37784807C>A?assembly=hg38",
        "id": "chr9:g.37784807C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374550999",
        "rs": 374550999
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-37784804-C-A?dataset=gnomad_r2_1",
        "id": "9-37784804-C-A",
        "variant": "9:37784804 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-37784807-C-A?dataset=gnomad_r3",
        "id": "9-37784807-C-A",
        "variant": "9:37784807 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-37784807-C-A?dataset=gnomad_r4",
        "id": "9-37784807-C-A",
        "variant": "9:37784807 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 37784807,
          "referenceAllele": "C",
          "start": 37784806
        }
      ],
      "hgvs": [
        "NC_000009.12:g.37784807C>A",
        "CM000671.2:g.37784807C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 37784804,
          "referenceAllele": "C",
          "start": 37784803
        }
      ],
      "hgvs": [
        "NC_000009.11:g.37784804C>A",
        "CM000671.1:g.37784804C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 37774804,
          "referenceAllele": "C",
          "start": 37774803
        }
      ],
      "hgvs": [
        "NC_000009.10:g.37774804C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5286,
          "referenceAllele": "G",
          "start": 5285
        }
      ],
      "hgvs": [
        "NG_032780.1:g.5286G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005217"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "referenceAllele": "G",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017944",
      "geneNCBI_id": 51010,
      "geneSymbol": "EXOSC3",
      "hgvs": [
        "ENST00000327304.10:c.238G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323046.4:p.Val80Phe",
        "hgvsWellDefined": "ENSP00000323046.4:p.Val80Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746824",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327304.10:c.238G>T"
          },
          "RefSeq": {
            "hgvs": "NM_016042.4:c.238G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323046.4:p.Val80Phe"
          },
          "RefSeq": {
            "hgvs": "NP_057126.2:p.Val80Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 55,
          "endIntronDirection": "-",
          "endIntronOffset": 743,
          "referenceAllele": "G",
          "start": 55,
          "startIntronDirection": "-",
          "startIntronOffset": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017944",
      "geneNCBI_id": 51010,
      "geneSymbol": "EXOSC3",
      "hgvs": [
        "ENST00000678095.1:c.-70-744G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503205.1:n.-70-744G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777745"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "referenceAllele": "G",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017944",
      "geneNCBI_id": 51010,
      "geneSymbol": "EXOSC3",
      "hgvs": [
        "ENST00000678588.1:n.258G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 253,
          "referenceAllele": "G",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017944",
      "geneNCBI_id": 51010,
      "geneSymbol": "EXOSC3",
      "hgvs": [
        "ENST00000679059.1:c.238G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503947.1:p.Val80Phe",
        "hgvsWellDefined": "ENSP00000503947.1:p.Val80Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 251,
          "referenceAllele": "G",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017944",
      "geneNCBI_id": 51010,
      "geneSymbol": "EXOSC3",
      "hgvs": [
        "ENST00000327304.9:c.238G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323046.4:p.Val80Phe",
        "hgvsWellDefined": "ENSP00000323046.4:p.Val80Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "referenceAllele": "G",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017944",
      "geneNCBI_id": 51010,
      "geneSymbol": "EXOSC3",
      "hgvs": [
        "ENST00000396521.3:c.238G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379775.3:p.Val80Phe",
        "hgvsWellDefined": "ENSP00000379775.3:p.Val80Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277310"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 255,
          "referenceAllele": "G",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017944",
      "geneNCBI_id": 51010,
      "geneSymbol": "EXOSC3",
      "hgvs": [
        "ENST00000465229.5:c.238G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418422.1:p.Val80Phe",
        "hgvsWellDefined": "ENSP00000418422.1:p.Val80Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308875"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 85,
          "endIntronDirection": "-",
          "endIntronOffset": 743,
          "referenceAllele": "G",
          "start": 85,
          "startIntronDirection": "-",
          "startIntronOffset": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017944",
      "geneNCBI_id": 51010,
      "geneSymbol": "EXOSC3",
      "hgvs": [
        "ENST00000482614.5:n.86-744G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322266"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 43,
          "endIntronDirection": "-",
          "endIntronOffset": 743,
          "referenceAllele": "G",
          "start": 43,
          "startIntronDirection": "-",
          "startIntronOffset": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017944",
      "geneNCBI_id": 51010,
      "geneSymbol": "EXOSC3",
      "hgvs": [
        "ENST00000489414.5:n.44-744G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327484"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1696,
          "endIntronDirection": "-",
          "endIntronOffset": 743,
          "referenceAllele": "G",
          "start": 1696,
          "startIntronDirection": "-",
          "startIntronOffset": 744
        }
      ],
      "hgvs": [
        "ENST00000540557.1:c.*761-744G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457548.1:n.*761-744G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825253081",
      "coordinates": [
        {
          "allele": "T",
          "end": 286,
          "referenceAllele": "G",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017944",
      "geneNCBI_id": 51010,
      "geneSymbol": "EXOSC3",
      "hgvs": [
        "NM_001002269.2:c.238G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002269.1:p.Val80Phe",
        "hgvsWellDefined": "NP_001002269.1:p.Val80Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007253"
    },
    {
      "@id": "http://reg.genome.network/allele/PA345540",
      "coordinates": [
        {
          "allele": "T",
          "end": 286,
          "referenceAllele": "G",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017944",
      "geneNCBI_id": 51010,
      "geneSymbol": "EXOSC3",
      "hgvs": [
        "NM_016042.3:c.238G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057126.2:p.Val80Phe",
        "hgvsWellDefined": "NP_057126.2:p.Val80Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034388"
    },
    {
      "@id": "http://reg.genome.network/allele/PA345540",
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "referenceAllele": "G",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017944",
      "geneNCBI_id": 51010,
      "geneSymbol": "EXOSC3",
      "hgvs": [
        "NM_016042.4:c.238G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057126.2:p.Val80Phe",
        "hgvsWellDefined": "NP_057126.2:p.Val80Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668959",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327304.10:c.238G>T"
          },
          "RefSeq": {
            "hgvs": "NM_016042.4:c.238G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323046.4:p.Val80Phe"
          },
          "RefSeq": {
            "hgvs": "NP_057126.2:p.Val80Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}