{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4651588",
  "communityStandardTitle": [
    "NM_000015.3(NAT2):c.282C>T (p.Tyr94=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3763232"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362499[alleleid]",
        "alleleId": 362499,
        "preferredName": "NM_000015.3(NAT2):c.282C>T (p.Tyr94=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3060182",
        "RCV": [
          "RCV003982211"
        ],
        "variationId": 3060182
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-18257795-C-T",
        "id": "8-18257795-C-T",
        "variant": "8:18257795 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.18257795C>T?assembly=hg19",
        "id": "chr8:g.18257795C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.18400285C>T?assembly=hg38",
        "id": "chr8:g.18400285C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1041983",
        "rs": 1041983
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-18257795-C-T?dataset=gnomad_r2_1",
        "id": "8-18257795-C-T",
        "variant": "8:18257795 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-18400285-C-T?dataset=gnomad_r3",
        "id": "8-18400285-C-T",
        "variant": "8:18400285 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-18400285-C-T?dataset=gnomad_r4",
        "id": "8-18400285-C-T",
        "variant": "8:18400285 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 18400285,
          "referenceAllele": "C",
          "start": 18400284
        }
      ],
      "hgvs": [
        "NC_000008.11:g.18400285C>T",
        "CM000670.2:g.18400285C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 18257795,
          "referenceAllele": "C",
          "start": 18257794
        }
      ],
      "hgvs": [
        "NC_000008.10:g.18257795C>T",
        "CM000670.1:g.18257795C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 18302075,
          "referenceAllele": "C",
          "start": 18302074
        }
      ],
      "hgvs": [
        "NC_000008.9:g.18302075C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14041,
          "referenceAllele": "C",
          "start": 14040
        }
      ],
      "hgvs": [
        "NG_012246.1:g.14041C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002314"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 352,
          "referenceAllele": "C",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "ENST00000286479.4:c.282C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286479.3:p.Tyr94="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286479.4:c.282C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000015.3:c.282C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286479.3:p.Tyr94="
          },
          "RefSeq": {
            "hgvs": "NP_000006.2:p.Tyr94="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 389,
          "referenceAllele": "C",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "ENST00000286479.3:c.282C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286479.3:p.Tyr94="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253369"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59,
          "endIntronDirection": "-",
          "endIntronOffset": 51,
          "referenceAllele": "C",
          "start": 59,
          "startIntronDirection": "-",
          "startIntronOffset": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "ENST00000520116.1:c.-57-52C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428416.1:n.-57-52C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347221"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825003057",
      "coordinates": [
        {
          "allele": "T",
          "end": 389,
          "referenceAllele": "C",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "NM_000015.2:c.282C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000006.2:p.Tyr94="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006080"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 383,
          "referenceAllele": "C",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "XM_011544358.1:c.282C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542660.1:p.Tyr94="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111269"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 740,
          "referenceAllele": "C",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "XM_017012938.1:c.282C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868427.1:p.Tyr94="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825003057",
      "coordinates": [
        {
          "allele": "T",
          "end": 352,
          "referenceAllele": "C",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "NM_000015.3:c.282C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000006.2:p.Tyr94="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662282",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286479.4:c.282C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000015.3:c.282C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286479.3:p.Tyr94="
          },
          "RefSeq": {
            "hgvs": "NP_000006.2:p.Tyr94="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}