{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1304929122",
  "communityStandardTitle": [
    "NM_001365536.1(SCN9A):c.5876A= (p.Asp1959=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060502047",
        "rs": 1060502047
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 166198763,
          "referenceAllele": "T",
          "start": 166198762
        }
      ],
      "hgvs": [
        "NC_000002.12:g.166198763T=",
        "CM000664.2:g.166198763T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 167055273,
          "referenceAllele": "T",
          "start": 167055272
        }
      ],
      "hgvs": [
        "NC_000002.11:g.167055273T=",
        "CM000664.1:g.167055273T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 166763519,
          "referenceAllele": "T",
          "start": 166763518
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166763519T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 182225,
          "referenceAllele": "A",
          "start": 182224
        }
      ],
      "hgvs": [
        "NG_012798.1:g.182225A=",
        "LRG_369:g.182225A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002537"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6124,
          "referenceAllele": "A",
          "start": 6123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000303354.11:c.5876A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304748.7:p.Asp1959="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745024"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5876,
          "referenceAllele": "A",
          "start": 5875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000409435.6:c.5876A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386330.2:p.Asp1959="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6174,
          "referenceAllele": "A",
          "start": 6173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000642356.2:c.5876A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495601.1:p.Asp1959="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766697",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642356.2:c.5876A="
          },
          "RefSeq": {
            "hgvs": "NM_001365536.1:c.5876A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495601.1:p.Asp1959="
          },
          "RefSeq": {
            "hgvs": "NP_001352465.1:p.Asp1959="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5720,
          "referenceAllele": "A",
          "start": 5719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000644316.1:c.5720A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493939.1:p.Asp1907="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6091,
          "referenceAllele": "A",
          "start": 6090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000645907.1:c.5843A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495983.1:p.Asp1948="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768602"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2253,
          "referenceAllele": "A",
          "start": 2252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000646694.1:n.2253A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6217,
          "referenceAllele": "A",
          "start": 6216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000303354.10:c.5876A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304748.7:p.Asp1959="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5876,
          "referenceAllele": "A",
          "start": 5875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000409435.5:c.5876A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386330.1:p.Asp1959="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6190,
          "referenceAllele": "A",
          "start": 6189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000409672.5:c.5843A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386306.1:p.Asp1948="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281751"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3067233635",
      "coordinates": [
        {
          "allele": "A",
          "end": 6184,
          "referenceAllele": "A",
          "start": 6183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "NM_002977.3:c.5843A=",
        "LRG_369t1:c.5843A="
      ],
      "proteinEffect": {
        "hgvs": "NP_002968.1:p.Asp1948="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 431,
          "endIntronDirection": "-",
          "endIntronOffset": 875,
          "referenceAllele": "T",
          "start": 431,
          "startIntronDirection": "-",
          "startIntronOffset": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054069",
      "geneNCBI_id": 101929680,
      "geneSymbol": "SCN1A-AS1",
      "hgvs": [
        "NR_110260.1:n.432-876T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054541"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6190,
          "referenceAllele": "A",
          "start": 6189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_005246757.1:c.5876A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005246814.1:p.Asp1959="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057779"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6138,
          "referenceAllele": "A",
          "start": 6137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511616.1:c.5876A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509918.1:p.Asp1959="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078877"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6190,
          "referenceAllele": "A",
          "start": 6189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511617.1:c.5876A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509919.1:p.Asp1959="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6157,
          "referenceAllele": "A",
          "start": 6156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511618.1:c.5843A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509920.1:p.Asp1948="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078879"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6174,
          "referenceAllele": "A",
          "start": 6173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "NM_001365536.1:c.5876A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001352465.1:p.Asp1959="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524144",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642356.2:c.5876A="
          },
          "RefSeq": {
            "hgvs": "NM_001365536.1:c.5876A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495601.1:p.Asp1959="
          },
          "RefSeq": {
            "hgvs": "NP_001352465.1:p.Asp1959="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6152,
          "referenceAllele": "A",
          "start": 6151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511616.3:c.5876A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509918.1:p.Asp1959="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542212"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6190,
          "referenceAllele": "A",
          "start": 6189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511617.2:c.5876A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509919.1:p.Asp1959="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6157,
          "referenceAllele": "A",
          "start": 6156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511618.2:c.5843A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509920.1:p.Asp1948="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5719,
          "referenceAllele": "A",
          "start": 5718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_017004668.1:c.5489A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860157.1:p.Asp1830="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560118"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5277,
          "referenceAllele": "A",
          "start": 5276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_017004669.1:c.5132A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016860158.1:p.Asp1711="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560119"
    }
  ],
  "type": "nucleotide"
}