{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10662174",
  "communityStandardTitle": [
    "NM_016233.2(PADI3):c.92+604T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.17576328T>C?assembly=hg19",
        "id": "chr1:g.17576328T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.17249833T>C?assembly=hg38",
        "id": "chr1:g.17249833T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2977227",
        "rs": 2977227
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-17576328-T-C?dataset=gnomad_r2_1",
        "id": "1-17576328-T-C",
        "variant": "1:17576328 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-17249833-T-C?dataset=gnomad_r3",
        "id": "1-17249833-T-C",
        "variant": "1:17249833 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-17249833-T-C?dataset=gnomad_r4",
        "id": "1-17249833-T-C",
        "variant": "1:17249833 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 17249833,
          "referenceAllele": "T",
          "start": 17249832
        }
      ],
      "hgvs": [
        "NC_000001.11:g.17249833T>C",
        "CM000663.2:g.17249833T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 17576328,
          "referenceAllele": "T",
          "start": 17576327
        }
      ],
      "hgvs": [
        "NC_000001.10:g.17576328T>C",
        "CM000663.1:g.17576328T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 17448915,
          "referenceAllele": "T",
          "start": 17448914
        }
      ],
      "hgvs": [
        "NC_000001.9:g.17448915T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5755,
          "referenceAllele": "T",
          "start": 5754
        }
      ],
      "hgvs": [
        "NG_052788.1:g.5755T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617162"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 132,
          "endIntronDirection": "+",
          "endIntronOffset": 604,
          "referenceAllele": "T",
          "start": 132,
          "startIntronDirection": "+",
          "startIntronOffset": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018337",
      "geneNCBI_id": 51702,
      "geneSymbol": "PADI3",
      "hgvs": [
        "ENST00000375460.3:c.92+604T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364609.3:n.92+604T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270723",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375460.3:c.92+604T>C"
          },
          "RefSeq": {
            "hgvs": "NM_016233.2:c.92+604T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364609.3:n.92+604T>C"
          },
          "RefSeq": {
            "hgvs": "NP_057317.2:n.92+604T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 132,
          "endIntronDirection": "+",
          "endIntronOffset": 604,
          "referenceAllele": "T",
          "start": 132,
          "startIntronDirection": "+",
          "startIntronOffset": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018337",
      "geneNCBI_id": 51702,
      "geneSymbol": "PADI3",
      "hgvs": [
        "NM_016233.2:c.92+604T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_057317.2:n.92+604T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034545",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375460.3:c.92+604T>C"
          },
          "RefSeq": {
            "hgvs": "NM_016233.2:c.92+604T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364609.3:n.92+604T>C"
          },
          "RefSeq": {
            "hgvs": "NP_057317.2:n.92+604T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 148,
          "endIntronDirection": "+",
          "endIntronOffset": 604,
          "referenceAllele": "T",
          "start": 148,
          "startIntronDirection": "+",
          "startIntronOffset": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018337",
      "geneNCBI_id": 51702,
      "geneSymbol": "PADI3",
      "hgvs": [
        "XM_011541572.1:c.92+604T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539874.1:n.92+604T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108509"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 151,
          "endIntronDirection": "+",
          "endIntronOffset": 604,
          "referenceAllele": "T",
          "start": 151,
          "startIntronDirection": "+",
          "startIntronOffset": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018337",
      "geneNCBI_id": 51702,
      "geneSymbol": "PADI3",
      "hgvs": [
        "XM_011541572.2:c.92+604T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539874.1:n.92+604T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554492"
    }
  ],
  "type": "nucleotide"
}