{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA640381",
  "communityStandardTitle": [
    "NM_012387.3(PADI4):c.245T>C (p.Val82Ala)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3746671"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=961215[alleleid]",
        "alleleId": 961215,
        "preferredName": "NM_012387.3(PADI4):c.245T>C (p.Val82Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/972893",
        "RCV": [
          "RCV001249180",
          "RCV003973163"
        ],
        "variationId": 972893
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-17657616-T-C",
        "id": "1-17657616-T-C",
        "variant": "1:17657616 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.17657616T>C?assembly=hg19",
        "id": "chr1:g.17657616T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.17331121T>C?assembly=hg38",
        "id": "chr1:g.17331121T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11203367",
        "rs": 11203367
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-17657616-T-C?dataset=gnomad_r2_1",
        "id": "1-17657616-T-C",
        "variant": "1:17657616 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-17331121-T-C?dataset=gnomad_r3",
        "id": "1-17331121-T-C",
        "variant": "1:17331121 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-17331121-T-C?dataset=gnomad_r4",
        "id": "1-17331121-T-C",
        "variant": "1:17331121 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 17331121,
          "referenceAllele": "T",
          "start": 17331120
        }
      ],
      "hgvs": [
        "NC_000001.11:g.17331121T>C",
        "CM000663.2:g.17331121T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 17657616,
          "referenceAllele": "T",
          "start": 17657615
        }
      ],
      "hgvs": [
        "NC_000001.10:g.17657616T>C",
        "CM000663.1:g.17657616T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 17530203,
          "referenceAllele": "T",
          "start": 17530202
        }
      ],
      "hgvs": [
        "NC_000001.9:g.17530203T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 27932,
          "referenceAllele": "T",
          "start": 27931
        }
      ],
      "hgvs": [
        "NG_023261.2:g.27932T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003753"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 271,
          "referenceAllele": "T",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "ENST00000375448.4:c.245T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364597.4:p.Val82Ala",
        "hgvsWellDefined": "ENSP00000364597.4:p.Val82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270716",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375448.4:c.245T>C"
          },
          "RefSeq": {
            "hgvs": "NM_012387.3:c.245T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364597.4:p.Val82Ala"
          },
          "RefSeq": {
            "hgvs": "NP_036519.2:p.Val82Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 273,
          "referenceAllele": "T",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "ENST00000375453.5:c.245T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364602.1:p.Val82Ala",
        "hgvsWellDefined": "ENSP00000364602.1:p.Val82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270718"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 166,
          "endIntronDirection": "+",
          "endIntronOffset": 510,
          "referenceAllele": "A",
          "start": 166,
          "startIntronDirection": "+",
          "startIntronOffset": 509
        }
      ],
      "hgvs": [
        "ENST00000624583.1:c.166+510A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485570.1:n.166+510A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406370"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139720213",
      "coordinates": [
        {
          "allele": "C",
          "end": 273,
          "referenceAllele": "T",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "NM_012387.2:c.245T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_036519.2:p.Val82Ala",
        "hgvsWellDefined": "NP_036519.2:p.Val82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032544"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 271,
          "referenceAllele": "T",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "XM_011541150.1:c.245T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539452.1:p.Val82Ala",
        "hgvsWellDefined": "XP_011539452.1:p.Val82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108093"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 273,
          "referenceAllele": "T",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "XM_011541151.1:c.245T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539453.1:p.Val82Ala",
        "hgvsWellDefined": "XP_011539453.1:p.Val82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108094"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 273,
          "referenceAllele": "T",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "XM_011541153.1:c.245T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539455.1:p.Val82Ala",
        "hgvsWellDefined": "XP_011539455.1:p.Val82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108096"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 273,
          "referenceAllele": "T",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "XM_011541154.1:c.245T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539456.1:p.Val82Ala",
        "hgvsWellDefined": "XP_011539456.1:p.Val82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108097"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 273,
          "referenceAllele": "T",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "XM_011541155.1:c.245T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539457.1:p.Val82Ala",
        "hgvsWellDefined": "XP_011539457.1:p.Val82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108098"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 273,
          "referenceAllele": "T",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "XM_011541156.1:c.245T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539458.1:p.Val82Ala",
        "hgvsWellDefined": "XP_011539458.1:p.Val82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108099"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 273,
          "referenceAllele": "T",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "XM_011541154.2:c.245T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539456.1:p.Val82Ala",
        "hgvsWellDefined": "XP_011539456.1:p.Val82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554331"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139720213",
      "coordinates": [
        {
          "allele": "C",
          "end": 271,
          "referenceAllele": "T",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018368",
      "geneNCBI_id": 23569,
      "geneSymbol": "PADI4",
      "hgvs": [
        "NM_012387.3:c.245T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_036519.2:p.Val82Ala",
        "hgvsWellDefined": "NP_036519.2:p.Val82Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668025",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375448.4:c.245T>C"
          },
          "RefSeq": {
            "hgvs": "NM_012387.3:c.245T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364597.4:p.Val82Ala"
          },
          "RefSeq": {
            "hgvs": "NP_036519.2:p.Val82Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}