{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1768219101",
  "communityStandardTitle": [
    "NM_000015.3(NAT2):c.688G= (p.Gly230=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1022807130",
        "rs": 1022807130
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 18400691,
          "referenceAllele": "G",
          "start": 18400690
        }
      ],
      "hgvs": [
        "NC_000008.11:g.18400691G=",
        "CM000670.2:g.18400691G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 18258201,
          "referenceAllele": "G",
          "start": 18258200
        }
      ],
      "hgvs": [
        "NC_000008.10:g.18258201G=",
        "CM000670.1:g.18258201G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 18302481,
          "referenceAllele": "G",
          "start": 18302480
        }
      ],
      "hgvs": [
        "NC_000008.9:g.18302481G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14447,
          "referenceAllele": "G",
          "start": 14446
        }
      ],
      "hgvs": [
        "NG_012246.1:g.14447G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002314"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 758,
          "referenceAllele": "G",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "ENST00000286479.4:c.688G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286479.3:p.Gly230="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286479.4:c.688G="
          },
          "RefSeq": {
            "hgvs": "NM_000015.3:c.688G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286479.3:p.Gly230="
          },
          "RefSeq": {
            "hgvs": "NP_000006.2:p.Gly230="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 795,
          "referenceAllele": "G",
          "start": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "ENST00000286479.3:c.688G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000286479.3:p.Gly230="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253369"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 414,
          "referenceAllele": "G",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "ENST00000520116.1:c.298G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428416.1:p.Gly100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347221"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074828022",
      "coordinates": [
        {
          "allele": "G",
          "end": 795,
          "referenceAllele": "G",
          "start": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "NM_000015.2:c.688G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000006.2:p.Gly230="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006080"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 789,
          "referenceAllele": "G",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "XM_011544358.1:c.688G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542660.1:p.Gly230="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111269"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1146,
          "referenceAllele": "G",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "XM_017012938.1:c.688G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016868427.1:p.Gly230="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074828022",
      "coordinates": [
        {
          "allele": "G",
          "end": 758,
          "referenceAllele": "G",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007646",
      "geneNCBI_id": 10,
      "geneSymbol": "NAT2",
      "hgvs": [
        "NM_000015.3:c.688G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000006.2:p.Gly230="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662282",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000286479.4:c.688G="
          },
          "RefSeq": {
            "hgvs": "NM_000015.3:c.688G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000286479.3:p.Gly230="
          },
          "RefSeq": {
            "hgvs": "NP_000006.2:p.Gly230="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}