{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1140415539",
  "communityStandardTitle": [
    "NM_012387.3(PADI4):c.392G= (p.Arg131=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/12733102",
        "rs": 12733102
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 17336210,
          "referenceAllele": "G",
          "start": 17336209
        }
      ],
      "hgvs": [
        "NC_000001.11:g.17336210G=",
        "CM000663.2:g.17336210G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 17662705,
          "referenceAllele": "G",
          "start": 17662704
        }
      ],
      "hgvs": [
        "NC_000001.10:g.17662705G=",
        "CM000663.1:g.17662705G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 17535292,
          "referenceAllele": "G",
          "start": 17535291
        }
      ],
      "hgvs": [
        "NC_000001.9:g.17535292G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 33021,
          "referenceAllele": "G",
          "start": 33020
        }
      ],
      "hgvs": [
        "NG_023261.2:g.33021G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003753"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 418,
          "referenceAllele": "G",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "ENST00000375448.4:c.392G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364597.4:p.Arg131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270716",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375448.4:c.392G="
          },
          "RefSeq": {
            "hgvs": "NM_012387.3:c.392G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364597.4:p.Arg131="
          },
          "RefSeq": {
            "hgvs": "NP_036519.2:p.Arg131="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063886325",
      "coordinates": [
        {
          "allele": "G",
          "end": 420,
          "referenceAllele": "G",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "NM_012387.2:c.392G="
      ],
      "proteinEffect": {
        "hgvs": "NP_036519.2:p.Arg131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032544"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 366,
          "endIntronDirection": "+",
          "endIntronOffset": 2201,
          "referenceAllele": "G",
          "start": 366,
          "startIntronDirection": "+",
          "startIntronOffset": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "XM_011541150.1:c.340+2201G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539452.1:n.340+2201G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108093"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 420,
          "referenceAllele": "G",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "XM_011541151.1:c.392G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539453.1:p.Arg131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108094"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 70,
          "referenceAllele": "G",
          "start": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "XM_011541152.1:c.-28G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539454.1:n.-28G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108095"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 420,
          "referenceAllele": "G",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "XM_011541153.1:c.392G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539455.1:p.Arg131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108096"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 420,
          "referenceAllele": "G",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "XM_011541154.1:c.392G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539456.1:p.Arg131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108097"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 420,
          "referenceAllele": "G",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "XM_011541155.1:c.392G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539457.1:p.Arg131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108098"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 420,
          "referenceAllele": "G",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "XM_011541156.1:c.392G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539458.1:p.Arg131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108099"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 78,
          "referenceAllele": "G",
          "start": 77
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "XM_011541157.1:c.-321G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539459.1:n.-321G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108100"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 420,
          "referenceAllele": "G",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "XM_011541154.2:c.392G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539456.1:p.Arg131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554331"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063886325",
      "coordinates": [
        {
          "allele": "G",
          "end": 418,
          "referenceAllele": "G",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "NM_012387.3:c.392G="
      ],
      "proteinEffect": {
        "hgvs": "NP_036519.2:p.Arg131="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668025",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375448.4:c.392G="
          },
          "RefSeq": {
            "hgvs": "NM_012387.3:c.392G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364597.4:p.Arg131="
          },
          "RefSeq": {
            "hgvs": "NP_036519.2:p.Arg131="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}