{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA370636106",
  "communityStandardTitle": [
    "NM_000015.3(NAT2):c.539T>C (p.Leu180Pro)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.18258052T>C?assembly=hg19",
        "id": "chr8:g.18258052T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.18400542T>C?assembly=hg38",
        "id": "chr8:g.18400542T>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 18400542,
          "referenceAllele": "T",
          "start": 18400541
        }
      ],
      "hgvs": [
        "NC_000008.11:g.18400542T>C",
        "CM000670.2:g.18400542T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 18258052,
          "referenceAllele": "T",
          "start": 18258051
        }
      ],
      "hgvs": [
        "NC_000008.10:g.18258052T>C",
        "CM000670.1:g.18258052T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 18302332,
          "referenceAllele": "T",
          "start": 18302331
        }
      ],
      "hgvs": [
        "NC_000008.9:g.18302332T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14298,
          "referenceAllele": "T",
          "start": 14297
        }
      ],
      "hgvs": [
        "NG_012246.1:g.14298T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002314"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 609,
          "referenceAllele": "T",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "ENST00000286479.4:c.539T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286479.3:p.Leu180Pro",
        "hgvsWellDefined": "ENSP00000286479.3:p.Leu180Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286479.4:c.539T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000015.3:c.539T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286479.3:p.Leu180Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000006.2:p.Leu180Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 646,
          "referenceAllele": "T",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "ENST00000286479.3:c.539T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286479.3:p.Leu180Pro",
        "hgvsWellDefined": "ENSP00000286479.3:p.Leu180Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253369"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 265,
          "referenceAllele": "T",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "ENST00000520116.1:c.149T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428416.1:p.Leu50Pro",
        "hgvsWellDefined": "ENSP00000428416.1:p.Leu50Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347221"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 646,
          "referenceAllele": "T",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "NM_000015.2:c.539T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000006.2:p.Leu180Pro",
        "hgvsWellDefined": "NP_000006.2:p.Leu180Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006080"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 640,
          "referenceAllele": "T",
          "start": 639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "XM_011544358.1:c.539T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542660.1:p.Leu180Pro",
        "hgvsWellDefined": "XP_011542660.1:p.Leu180Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111269"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 997,
          "referenceAllele": "T",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "XM_017012938.1:c.539T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868427.1:p.Leu180Pro",
        "hgvsWellDefined": "XP_016868427.1:p.Leu180Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566383"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 609,
          "referenceAllele": "T",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "NM_000015.3:c.539T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000006.2:p.Leu180Pro",
        "hgvsWellDefined": "NP_000006.2:p.Leu180Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662282",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286479.4:c.539T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000015.3:c.539T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286479.3:p.Leu180Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000006.2:p.Leu180Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}