{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA370636402",
  "communityStandardTitle": [
    "NM_000015.3(NAT2):c.680C>A (p.Thr227Asn)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.18258193C>A?assembly=hg19",
        "id": "chr8:g.18258193C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.18400683C>A?assembly=hg38",
        "id": "chr8:g.18400683C>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 18400683,
          "referenceAllele": "C",
          "start": 18400682
        }
      ],
      "hgvs": [
        "NC_000008.11:g.18400683C>A",
        "CM000670.2:g.18400683C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 18258193,
          "referenceAllele": "C",
          "start": 18258192
        }
      ],
      "hgvs": [
        "NC_000008.10:g.18258193C>A",
        "CM000670.1:g.18258193C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 18302473,
          "referenceAllele": "C",
          "start": 18302472
        }
      ],
      "hgvs": [
        "NC_000008.9:g.18302473C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14439,
          "referenceAllele": "C",
          "start": 14438
        }
      ],
      "hgvs": [
        "NG_012246.1:g.14439C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002314"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 750,
          "referenceAllele": "C",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "ENST00000286479.4:c.680C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286479.3:p.Thr227Asn",
        "hgvsWellDefined": "ENSP00000286479.3:p.Thr227Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286479.4:c.680C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000015.3:c.680C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286479.3:p.Thr227Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000006.2:p.Thr227Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 787,
          "referenceAllele": "C",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "ENST00000286479.3:c.680C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286479.3:p.Thr227Asn",
        "hgvsWellDefined": "ENSP00000286479.3:p.Thr227Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253369"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 406,
          "referenceAllele": "C",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "ENST00000520116.1:c.290C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428416.1:p.Thr97Asn",
        "hgvsWellDefined": "ENSP00000428416.1:p.Thr97Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347221"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 787,
          "referenceAllele": "C",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "NM_000015.2:c.680C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000006.2:p.Thr227Asn",
        "hgvsWellDefined": "NP_000006.2:p.Thr227Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 781,
          "referenceAllele": "C",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "XM_011544358.1:c.680C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542660.1:p.Thr227Asn",
        "hgvsWellDefined": "XP_011542660.1:p.Thr227Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111269"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1138,
          "referenceAllele": "C",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "XM_017012938.1:c.680C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868427.1:p.Thr227Asn",
        "hgvsWellDefined": "XP_016868427.1:p.Thr227Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 750,
          "referenceAllele": "C",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "NM_000015.3:c.680C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000006.2:p.Thr227Asn",
        "hgvsWellDefined": "NP_000006.2:p.Thr227Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662282",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286479.4:c.680C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000015.3:c.680C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286479.3:p.Thr227Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000006.2:p.Thr227Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}