{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA640249",
  "communityStandardTitle": [
    "NM_016233.2(PADI3):c.1813C>A (p.Pro605Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361774[alleleid]",
        "alleleId": 361774,
        "preferredName": "NM_016233.2(PADI3):c.1813C>A (p.Pro605Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374869",
        "RCV": [
          "RCV000415553"
        ],
        "variationId": 374869
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-17609392-C-A",
        "id": "1-17609392-C-A",
        "variant": "1:17609392 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.17609392C>A?assembly=hg19",
        "id": "chr1:g.17609392C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.17282897C>A?assembly=hg38",
        "id": "chr1:g.17282897C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/144944758",
        "rs": 144944758
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-17609392-C-A?dataset=gnomad_r2_1",
        "id": "1-17609392-C-A",
        "variant": "1:17609392 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-17282897-C-A?dataset=gnomad_r3",
        "id": "1-17282897-C-A",
        "variant": "1:17282897 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-17282897-C-A?dataset=gnomad_r4",
        "id": "1-17282897-C-A",
        "variant": "1:17282897 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 17282897,
          "referenceAllele": "C",
          "start": 17282896
        }
      ],
      "hgvs": [
        "NC_000001.11:g.17282897C>A",
        "CM000663.2:g.17282897C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 17609392,
          "referenceAllele": "C",
          "start": 17609391
        }
      ],
      "hgvs": [
        "NC_000001.10:g.17609392C>A",
        "CM000663.1:g.17609392C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 17481979,
          "referenceAllele": "C",
          "start": 17481978
        }
      ],
      "hgvs": [
        "NC_000001.9:g.17481979C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 38819,
          "referenceAllele": "C",
          "start": 38818
        }
      ],
      "hgvs": [
        "NG_052788.1:g.38819C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617162"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1853,
          "referenceAllele": "C",
          "start": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018337",
      "geneNCBI_id": 51702,
      "geneSymbol": "PADI3",
      "hgvs": [
        "ENST00000375460.3:c.1813C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364609.3:p.Pro605Thr",
        "hgvsWellDefined": "ENSP00000364609.3:p.Pro605Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270723",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375460.3:c.1813C>A"
          },
          "RefSeq": {
            "hgvs": "NM_016233.2:c.1813C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364609.3:p.Pro605Thr"
          },
          "RefSeq": {
            "hgvs": "NP_057317.2:p.Pro605Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645483567",
      "coordinates": [
        {
          "allele": "A",
          "end": 1853,
          "referenceAllele": "C",
          "start": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018337",
      "geneNCBI_id": 51702,
      "geneSymbol": "PADI3",
      "hgvs": [
        "NM_016233.2:c.1813C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057317.2:p.Pro605Thr",
        "hgvsWellDefined": "NP_057317.2:p.Pro605Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375460.3:c.1813C>A"
          },
          "RefSeq": {
            "hgvs": "NM_016233.2:c.1813C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364609.3:p.Pro605Thr"
          },
          "RefSeq": {
            "hgvs": "NP_057317.2:p.Pro605Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1755,
          "referenceAllele": "C",
          "start": 1754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018337",
      "geneNCBI_id": 51702,
      "geneSymbol": "PADI3",
      "hgvs": [
        "XM_006710684.2:c.1699C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710747.1:p.Pro567Thr",
        "hgvsWellDefined": "XP_006710747.1:p.Pro567Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3298,
          "referenceAllele": "C",
          "start": 3297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018337",
      "geneNCBI_id": 51702,
      "geneSymbol": "PADI3",
      "hgvs": [
        "XM_011541571.1:c.1699C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539873.1:p.Pro567Thr",
        "hgvsWellDefined": "XP_011539873.1:p.Pro567Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108508"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3464,
          "referenceAllele": "C",
          "start": 3463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018337",
      "geneNCBI_id": 51702,
      "geneSymbol": "PADI3",
      "hgvs": [
        "XM_011541571.2:c.1699C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539873.1:p.Pro567Thr",
        "hgvsWellDefined": "XP_011539873.1:p.Pro567Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554491"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1602,
          "referenceAllele": "C",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018337",
      "geneNCBI_id": 51702,
      "geneSymbol": "PADI3",
      "hgvs": [
        "XM_017001463.1:c.1276C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856952.1:p.Pro426Thr",
        "hgvsWellDefined": "XP_016856952.1:p.Pro426Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557635"
    }
  ],
  "type": "nucleotide"
}