{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA891205299",
  "communityStandardTitle": [
    "NM_012387.3(PADI4):c.408+186A>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.17662907A>G?assembly=hg19",
        "id": "chr1:g.17662907A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.17336412A>G?assembly=hg38",
        "id": "chr1:g.17336412A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1748031",
        "rs": 1748031
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 17336412,
          "referenceAllele": "A",
          "start": 17336411
        }
      ],
      "hgvs": [
        "NC_000001.11:g.17336412A>G",
        "CM000663.2:g.17336412A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 17662907,
          "referenceAllele": "A",
          "start": 17662906
        }
      ],
      "hgvs": [
        "NC_000001.10:g.17662907A>G",
        "CM000663.1:g.17662907A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 17535494,
          "referenceAllele": "A",
          "start": 17535493
        }
      ],
      "hgvs": [
        "NC_000001.9:g.17535494A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 33223,
          "referenceAllele": "A",
          "start": 33222
        }
      ],
      "hgvs": [
        "NG_023261.2:g.33223A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003753"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 434,
          "endIntronDirection": "+",
          "endIntronOffset": 186,
          "referenceAllele": "A",
          "start": 434,
          "startIntronDirection": "+",
          "startIntronOffset": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "ENST00000375448.4:c.408+186A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364597.4:n.408+186A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270716",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375448.4:c.408+186A>G"
          },
          "RefSeq": {
            "hgvs": "NM_012387.3:c.408+186A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364597.4:n.408+186A>G"
          },
          "RefSeq": {
            "hgvs": "NP_036519.2:n.408+186A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 436,
          "endIntronDirection": "+",
          "endIntronOffset": 186,
          "referenceAllele": "A",
          "start": 436,
          "startIntronDirection": "+",
          "startIntronOffset": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "NM_012387.2:c.408+186A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036519.2:n.408+186A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032544"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 366,
          "endIntronDirection": "+",
          "endIntronOffset": 2403,
          "referenceAllele": "A",
          "start": 366,
          "startIntronDirection": "+",
          "startIntronOffset": 2402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "XM_011541150.1:c.340+2403A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539452.1:n.340+2403A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108093"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 436,
          "endIntronDirection": "+",
          "endIntronOffset": 186,
          "referenceAllele": "A",
          "start": 436,
          "startIntronDirection": "+",
          "startIntronOffset": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "XM_011541151.1:c.408+186A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539453.1:n.408+186A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108094"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 86,
          "endIntronDirection": "+",
          "endIntronOffset": 186,
          "referenceAllele": "A",
          "start": 86,
          "startIntronDirection": "+",
          "startIntronOffset": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "XM_011541152.1:c.-12+186A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539454.1:n.-12+186A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108095"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 436,
          "endIntronDirection": "+",
          "endIntronOffset": 186,
          "referenceAllele": "A",
          "start": 436,
          "startIntronDirection": "+",
          "startIntronOffset": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "XM_011541153.1:c.408+186A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539455.1:n.408+186A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108096"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 436,
          "endIntronDirection": "+",
          "endIntronOffset": 186,
          "referenceAllele": "A",
          "start": 436,
          "startIntronDirection": "+",
          "startIntronOffset": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "XM_011541154.1:c.408+186A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539456.1:n.408+186A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108097"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 436,
          "endIntronDirection": "+",
          "endIntronOffset": 186,
          "referenceAllele": "A",
          "start": 436,
          "startIntronDirection": "+",
          "startIntronOffset": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "XM_011541155.1:c.408+186A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539457.1:n.408+186A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108098"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 436,
          "endIntronDirection": "+",
          "endIntronOffset": 186,
          "referenceAllele": "A",
          "start": 436,
          "startIntronDirection": "+",
          "startIntronOffset": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "XM_011541156.1:c.408+186A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539458.1:n.408+186A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108099"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 94,
          "endIntronDirection": "+",
          "endIntronOffset": 186,
          "referenceAllele": "A",
          "start": 94,
          "startIntronDirection": "+",
          "startIntronOffset": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "XM_011541157.1:c.-305+186A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539459.1:n.-305+186A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108100"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 436,
          "endIntronDirection": "+",
          "endIntronOffset": 186,
          "referenceAllele": "A",
          "start": 436,
          "startIntronDirection": "+",
          "startIntronOffset": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "XM_011541154.2:c.408+186A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539456.1:n.408+186A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554331"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 434,
          "endIntronDirection": "+",
          "endIntronOffset": 186,
          "referenceAllele": "A",
          "start": 434,
          "startIntronDirection": "+",
          "startIntronOffset": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "NM_012387.3:c.408+186A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036519.2:n.408+186A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668025",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375448.4:c.408+186A>G"
          },
          "RefSeq": {
            "hgvs": "NM_012387.3:c.408+186A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364597.4:n.408+186A>G"
          },
          "RefSeq": {
            "hgvs": "NP_036519.2:n.408+186A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}