{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8354989",
  "communityStandardTitle": [
    "NM_001143992.2(WRAP53):c.495C>T (p.Ser165=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM6082217"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=330270[alleleid]",
        "alleleId": 330270,
        "preferredName": "NM_001143992.2(WRAP53):c.495C>T (p.Ser165=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/325654",
        "RCV": [
          "RCV000399881",
          "RCV002056637"
        ],
        "variationId": 325654
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-7592605-C-T",
        "id": "17-7592605-C-T",
        "variant": "17:7592605 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7592605C>T?assembly=hg19",
        "id": "chr17:g.7592605C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7689287C>T?assembly=hg38",
        "id": "chr17:g.7689287C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/147817526",
        "rs": 147817526
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7592605-C-T?dataset=gnomad_r2_1",
        "id": "17-7592605-C-T",
        "variant": "17:7592605 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7689287-C-T?dataset=gnomad_r3",
        "id": "17-7689287-C-T",
        "variant": "17:7689287 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7689287-C-T?dataset=gnomad_r4",
        "id": "17-7689287-C-T",
        "variant": "17:7689287 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7689287,
          "referenceAllele": "C",
          "start": 7689286
        }
      ],
      "hgvs": [
        "NC_000017.11:g.7689287C>T",
        "CM000679.2:g.7689287C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7592605,
          "referenceAllele": "C",
          "start": 7592604
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7592605C>T",
        "CM000679.1:g.7592605C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7533330,
          "referenceAllele": "C",
          "start": 7533329
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7533330C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3264,
          "referenceAllele": "G",
          "start": 3263
        }
      ],
      "hgvs": [
        "NG_017013.2:g.3264G>A",
        "LRG_321:g.3264G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003369"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8217,
          "referenceAllele": "C",
          "start": 8216
        }
      ],
      "hgvs": [
        "NG_028245.1:g.8217C>T",
        "LRG_375:g.8217C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004148"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1145,
          "referenceAllele": "C",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000698742.1:c.495C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513904.1:p.Ser165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909695"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "referenceAllele": "C",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000698743.1:c.495C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513905.1:p.Ser165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909696"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 590,
          "referenceAllele": "C",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000698744.1:c.495C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513906.1:p.Ser165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 590,
          "referenceAllele": "C",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000698745.1:c.495C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513907.1:p.Ser165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909698"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 580,
          "referenceAllele": "C",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000698746.1:c.495C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513908.1:p.Ser165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000396463.7:c.495C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379727.3:p.Ser165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753530",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396463.7:c.495C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001143992.2:c.495C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379727.3:p.Ser165="
          },
          "RefSeq": {
            "hgvs": "NP_001137464.1:p.Ser165="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2843,
          "referenceAllele": "C",
          "start": 2842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000316024.9:c.495C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324203.5:p.Ser165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257166"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 737,
          "referenceAllele": "C",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000396463.6:c.495C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379727.2:p.Ser165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277286"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 650,
          "referenceAllele": "C",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000431639.6:c.495C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397219.2:p.Ser165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 660,
          "referenceAllele": "C",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000457584.6:c.495C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411061.2:p.Ser165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000467699.5:n.581C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1458,
          "referenceAllele": "C",
          "start": 1457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000498311.5:c.495C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432991.1:p.Ser165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 603,
          "endIntronDirection": "+",
          "endIntronOffset": 208,
          "referenceAllele": "C",
          "start": 603,
          "startIntronDirection": "+",
          "startIntronOffset": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "ENST00000534050.5:c.431+208C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434999.1:n.431+208C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825861280",
      "coordinates": [
        {
          "allele": "T",
          "end": 650,
          "referenceAllele": "C",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "NM_001143990.1:c.495C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137462.1:p.Ser165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013233"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825861605",
      "coordinates": [
        {
          "allele": "T",
          "end": 660,
          "referenceAllele": "C",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "NM_001143991.1:c.495C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137463.1:p.Ser165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013234"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825861933",
      "coordinates": [
        {
          "allele": "T",
          "end": 709,
          "referenceAllele": "C",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "NM_001143992.1:c.495C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137464.1:p.Ser165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013235"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829876729",
      "coordinates": [
        {
          "allele": "T",
          "end": 795,
          "referenceAllele": "C",
          "start": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "NM_018081.2:c.495C>T",
        "LRG_375t1:c.495C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060551.2:p.Ser165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 64,
          "referenceAllele": "C",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "XM_011523952.1:c.-138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522254.1:n.-138C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 443,
          "referenceAllele": "C",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "XM_011523952.2:c.-138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522254.1:n.-138C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 583,
          "referenceAllele": "C",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "XM_024450824.1:c.-1581C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306592.1:n.-1581C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584354"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1486,
          "referenceAllele": "C",
          "start": 1485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "XM_024450825.1:c.495C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306593.1:p.Ser165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 740,
          "referenceAllele": "C",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "XR_001752551.2:n.740C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599236"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825861605",
      "coordinates": [
        {
          "allele": "T",
          "end": 671,
          "referenceAllele": "C",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "NM_001143991.2:c.495C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137463.1:p.Ser165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677691"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825861933",
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "NM_001143992.2:c.495C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137464.1:p.Ser165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677692",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396463.7:c.495C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001143992.2:c.495C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379727.3:p.Ser165="
          },
          "RefSeq": {
            "hgvs": "NP_001137464.1:p.Ser165="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825861280",
      "coordinates": [
        {
          "allele": "T",
          "end": 650,
          "referenceAllele": "C",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025522",
      "geneNCBI_id": 55135,
      "geneSymbol": "WRAP53",
      "hgvs": [
        "NM_001143990.2:c.495C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001137462.1:p.Ser165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712687"
    }
  ],
  "type": "nucleotide"
}