{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8355254",
  "communityStandardTitle": [
    "NM_001143992.2(WRAP53):c.1075C>T (p.Pro359Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=376727[alleleid]",
        "alleleId": 376727,
        "preferredName": "NM_001143992.2(WRAP53):c.1075C>T (p.Pro359Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/392640",
        "RCV": [
          "RCV000426413",
          "RCV000767151",
          "RCV002418337",
          "RCV003942461"
        ],
        "variationId": 392640
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-7605781-C-T",
        "id": "17-7605781-C-T",
        "variant": "17:7605781 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7605781C>T?assembly=hg19",
        "id": "chr17:g.7605781C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7702463C>T?assembly=hg38",
        "id": "chr17:g.7702463C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/149359927",
        "rs": 149359927
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7605781-C-T?dataset=gnomad_r2_1",
        "id": "17-7605781-C-T",
        "variant": "17:7605781 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7702463-C-T?dataset=gnomad_r3",
        "id": "17-7702463-C-T",
        "variant": "17:7702463 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7702463-C-T?dataset=gnomad_r4",
        "id": "17-7702463-C-T",
        "variant": "17:7702463 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7702463,
          "referenceAllele": "C",
          "start": 7702462
        }
      ],
      "hgvs": [
        "NC_000017.11:g.7702463C>T",
        "CM000679.2:g.7702463C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7605781,
          "referenceAllele": "C",
          "start": 7605780
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7605781C>T",
        "CM000679.1:g.7605781C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7546506,
          "referenceAllele": "C",
          "start": 7546505
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7546506C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21393,
          "referenceAllele": "C",
          "start": 21392
        }
      ],
      "hgvs": [
        "NG_028245.1:g.21393C>T",
        "LRG_375:g.21393C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004148"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1725,
          "referenceAllele": "C",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000698742.1:c.1075C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513904.1:p.Pro359Ser",
        "hgvsWellDefined": "ENSP00000513904.1:p.Pro359Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909695"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1668,
          "referenceAllele": "C",
          "start": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000698743.1:c.*808C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513905.1:n.*808C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909696"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1517,
          "referenceAllele": "C",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000698744.1:c.*735C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513906.1:n.*735C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1163,
          "referenceAllele": "C",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000698745.1:c.*519C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513907.1:n.*519C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909698"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1160,
          "referenceAllele": "C",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000698746.1:c.1075C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513908.1:p.Pro359Ser",
        "hgvsWellDefined": "ENSP00000513908.1:p.Pro359Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 667,
          "referenceAllele": "C",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000698747.1:c.667C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513909.1:p.Pro223Ser",
        "hgvsWellDefined": "ENSP00000513909.1:p.Pro223Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1161,
          "referenceAllele": "C",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000396463.7:c.1075C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379727.3:p.Pro359Ser",
        "hgvsWellDefined": "ENSP00000379727.3:p.Pro359Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753530",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396463.7:c.1075C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001143992.2:c.1075C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379727.3:p.Pro359Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001137464.1:p.Pro359Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3423,
          "referenceAllele": "C",
          "start": 3422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000316024.9:c.1075C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324203.5:p.Pro359Ser",
        "hgvsWellDefined": "ENSP00000324203.5:p.Pro359Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257166"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1317,
          "referenceAllele": "C",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000396463.6:c.1075C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379727.2:p.Pro359Ser",
        "hgvsWellDefined": "ENSP00000379727.2:p.Pro359Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277286"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1230,
          "referenceAllele": "C",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000431639.6:c.1075C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397219.2:p.Pro359Ser",
        "hgvsWellDefined": "ENSP00000397219.2:p.Pro359Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1240,
          "referenceAllele": "C",
          "start": 1239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000457584.6:c.1075C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411061.2:p.Pro359Ser",
        "hgvsWellDefined": "ENSP00000411061.2:p.Pro359Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 133,
          "endIntronDirection": "-",
          "endIntronOffset": 279,
          "referenceAllele": "C",
          "start": 133,
          "startIntronDirection": "-",
          "startIntronOffset": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000463804.6:c.134-280C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465025.1:n.134-280C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307761"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1747,
          "referenceAllele": "C",
          "start": 1746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000467699.5:n.1747C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 346,
          "referenceAllele": "C",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000471973.6:n.346C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2070,
          "referenceAllele": "C",
          "start": 2069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000498311.5:c.*243C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432991.1:n.*243C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1148,
          "referenceAllele": "C",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000534050.5:c.976C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434999.1:p.Pro326Ser",
        "hgvsWellDefined": "ENSP00000434999.1:p.Pro326Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825861397",
      "coordinates": [
        {
          "allele": "T",
          "end": 1230,
          "referenceAllele": "C",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "NM_001143990.1:c.1075C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137462.1:p.Pro359Ser",
        "hgvsWellDefined": "NP_001137462.1:p.Pro359Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013233"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825861722",
      "coordinates": [
        {
          "allele": "T",
          "end": 1240,
          "referenceAllele": "C",
          "start": 1239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "NM_001143991.1:c.1075C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137463.1:p.Pro359Ser",
        "hgvsWellDefined": "NP_001137463.1:p.Pro359Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013234"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825862050",
      "coordinates": [
        {
          "allele": "T",
          "end": 1289,
          "referenceAllele": "C",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "NM_001143992.1:c.1075C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137464.1:p.Pro359Ser",
        "hgvsWellDefined": "NP_001137464.1:p.Pro359Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013235"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645499741",
      "coordinates": [
        {
          "allele": "T",
          "end": 1375,
          "referenceAllele": "C",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "NM_018081.2:c.1075C>T",
        "LRG_375t1:c.1075C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060551.2:p.Pro359Ser",
        "hgvsWellDefined": "NP_060551.2:p.Pro359Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "XM_011523952.1:c.436C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522254.1:p.Pro146Ser",
        "hgvsWellDefined": "XP_011522254.1:p.Pro146Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1016,
          "referenceAllele": "C",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "XM_011523952.2:c.436C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522254.1:p.Pro146Ser",
        "hgvsWellDefined": "XP_011522254.1:p.Pro146Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2446,
          "referenceAllele": "C",
          "start": 2445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "XM_024450824.1:c.283C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306592.1:p.Pro95Ser",
        "hgvsWellDefined": "XP_024306592.1:p.Pro95Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584354"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1352,
          "referenceAllele": "C",
          "start": 1351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "XR_001752551.2:n.1352C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599236"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825861722",
      "coordinates": [
        {
          "allele": "T",
          "end": 1251,
          "referenceAllele": "C",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "NM_001143991.2:c.1075C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137463.1:p.Pro359Ser",
        "hgvsWellDefined": "NP_001137463.1:p.Pro359Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677691"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825862050",
      "coordinates": [
        {
          "allele": "T",
          "end": 1161,
          "referenceAllele": "C",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "NM_001143992.2:c.1075C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137464.1:p.Pro359Ser",
        "hgvsWellDefined": "NP_001137464.1:p.Pro359Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677692",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396463.7:c.1075C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001143992.2:c.1075C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379727.3:p.Pro359Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001137464.1:p.Pro359Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825861397",
      "coordinates": [
        {
          "allele": "T",
          "end": 1230,
          "referenceAllele": "C",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "NM_001143990.2:c.1075C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137462.1:p.Pro359Ser",
        "hgvsWellDefined": "NP_001137462.1:p.Pro359Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712687"
    }
  ],
  "type": "nucleotide"
}