{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8355317",
  "communityStandardTitle": [
    "NM_001143992.2(WRAP53):c.1269-13C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=347505[alleleid]",
        "alleleId": 347505,
        "preferredName": "NM_001143992.2(WRAP53):c.1269-13C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/325662",
        "RCV": [
          "RCV000360411",
          "RCV002056639"
        ],
        "variationId": 325662
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-7606298-C-T",
        "id": "17-7606298-C-T",
        "variant": "17:7606298 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7606298C>T?assembly=hg19",
        "id": "chr17:g.7606298C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7702980C>T?assembly=hg38",
        "id": "chr17:g.7702980C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/371953585",
        "rs": 371953585
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7606298-C-T?dataset=gnomad_r2_1",
        "id": "17-7606298-C-T",
        "variant": "17:7606298 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7702980-C-T?dataset=gnomad_r3",
        "id": "17-7702980-C-T",
        "variant": "17:7702980 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7702980-C-T?dataset=gnomad_r4",
        "id": "17-7702980-C-T",
        "variant": "17:7702980 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7702980,
          "referenceAllele": "C",
          "start": 7702979
        }
      ],
      "hgvs": [
        "NC_000017.11:g.7702980C>T",
        "CM000679.2:g.7702980C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7606298,
          "referenceAllele": "C",
          "start": 7606297
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7606298C>T",
        "CM000679.1:g.7606298C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7547023,
          "referenceAllele": "C",
          "start": 7547022
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7547023C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21910,
          "referenceAllele": "C",
          "start": 21909
        }
      ],
      "hgvs": [
        "NG_028245.1:g.21910C>T",
        "LRG_375:g.21910C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004148"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1918,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 1918,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000698742.1:c.1269-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513904.1:n.1269-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909695"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1861,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 1861,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000698743.1:c.*1002-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513905.1:n.*1002-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909696"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1710,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 1710,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000698744.1:c.*929-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513906.1:n.*929-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1356,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 1356,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000698745.1:c.*713-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513907.1:n.*713-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909698"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1353,
          "endIntronDirection": "+",
          "endIntronOffset": 134,
          "referenceAllele": "C",
          "start": 1353,
          "startIntronDirection": "+",
          "startIntronOffset": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000698746.1:c.1268+134C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513908.1:n.1268+134C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 860,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 860,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000698747.1:c.861-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513909.1:n.861-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1354,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 1354,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000396463.7:c.1269-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379727.3:n.1269-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753530",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396463.7:c.1269-13C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001143992.2:c.1269-13C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379727.3:n.1269-13C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001137464.1:n.1269-13C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3616,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 3616,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000316024.9:c.1269-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324203.5:n.1269-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257166"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1510,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 1510,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000396463.6:c.1269-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379727.2:n.1269-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277286"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1423,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 1423,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000431639.6:c.1269-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397219.2:n.1269-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1433,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 1433,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000457584.6:c.1269-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411061.2:n.1269-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 237,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 237,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000463804.6:c.238-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465025.1:n.238-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307761"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2130,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2130,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000467699.5:n.2131-13C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 603,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 603,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000471973.6:n.604-13C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 100,
          "referenceAllele": "C",
          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000498114.1:n.100C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2263,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2263,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000498311.5:c.*437-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432991.1:n.*437-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1341,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 1341,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000534050.5:c.1170-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434999.1:n.1170-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1423,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 1423,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "NM_001143990.1:c.1269-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137462.1:n.1269-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1433,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 1433,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "NM_001143991.1:c.1269-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137463.1:n.1269-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1482,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 1482,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "NM_001143992.1:c.1269-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137464.1:n.1269-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1568,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 1568,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "NM_018081.2:c.1269-13C>T",
        "LRG_375t1:c.1269-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060551.2:n.1269-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 830,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 830,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "XM_011523952.1:c.630-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522254.1:n.630-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1209,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 1209,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "XM_011523952.2:c.630-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522254.1:n.630-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2639,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 2639,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "XM_024450824.1:c.477-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306592.1:n.477-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584354"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1545,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 1545,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "XR_001752551.2:n.1546-13C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1444,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 1444,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "NM_001143991.2:c.1269-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137463.1:n.1269-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1354,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 1354,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "NM_001143992.2:c.1269-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137464.1:n.1269-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677692",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396463.7:c.1269-13C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001143992.2:c.1269-13C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379727.3:n.1269-13C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001137464.1:n.1269-13C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1423,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 1423,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "NM_001143990.2:c.1269-13C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137462.1:n.1269-13C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712687"
    }
  ],
  "type": "nucleotide"
}