{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3156098677",
  "communityStandardTitle": [
    "NM_000553.6(WRN):c.3913C= (p.Arg1305=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908446",
        "rs": 121908446
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 31157461,
          "referenceAllele": "C",
          "start": 31157460
        }
      ],
      "hgvs": [
        "NC_000008.11:g.31157461C=",
        "CM000670.2:g.31157461C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 31014977,
          "referenceAllele": "C",
          "start": 31014976
        }
      ],
      "hgvs": [
        "NC_000008.10:g.31014977C=",
        "CM000670.1:g.31014977C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 31134519,
          "referenceAllele": "C",
          "start": 31134518
        }
      ],
      "hgvs": [
        "NC_000008.9:g.31134519C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 129200,
          "referenceAllele": "C",
          "start": 129199
        }
      ],
      "hgvs": [
        "NG_008870.1:g.129200C=",
        "LRG_524:g.129200C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001265"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4153,
          "referenceAllele": "C",
          "start": 4152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012791",
      "geneNCBI_id": 7486,
      "geneSymbol": "WRN",
      "hgvs": [
        "ENST00000298139.7:c.3913C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298139.5:p.Arg1305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744574",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298139.7:c.3913C="
          },
          "RefSeq": {
            "hgvs": "NM_000553.6:c.3913C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298139.5:p.Arg1305="
          },
          "RefSeq": {
            "hgvs": "NP_000544.2:p.Arg1305="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4029,
          "referenceAllele": "C",
          "start": 4028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012791",
      "geneNCBI_id": 7486,
      "geneSymbol": "WRN",
      "hgvs": [
        "ENST00000650667.1:c.*3527C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498593.1:n.*3527C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771243"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4162,
          "referenceAllele": "C",
          "start": 4161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012791",
      "geneNCBI_id": 7486,
      "geneSymbol": "WRN",
      "hgvs": [
        "ENST00000298139.5:c.3913C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298139.5:p.Arg1305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254555"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2546,
          "referenceAllele": "C",
          "start": 2545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012791",
      "geneNCBI_id": 7486,
      "geneSymbol": "WRN",
      "hgvs": [
        "ENST00000521620.5:n.2546C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS348401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074700329",
      "coordinates": [
        {
          "allele": "C",
          "end": 4701,
          "referenceAllele": "C",
          "start": 4700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012791",
      "geneNCBI_id": 7486,
      "geneSymbol": "WRN",
      "hgvs": [
        "NM_000553.4:c.3913C=",
        "LRG_524t1:c.3913C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000544.2:p.Arg1305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006612"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4104,
          "referenceAllele": "C",
          "start": 4103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012791",
      "geneNCBI_id": 7486,
      "geneSymbol": "WRN",
      "hgvs": [
        "XM_011544639.1:c.3832C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542941.1:p.Arg1278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111550"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2414,
          "referenceAllele": "C",
          "start": 2413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012791",
      "geneNCBI_id": 7486,
      "geneSymbol": "WRN",
      "hgvs": [
        "XM_011544640.1:c.2314C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542942.1:p.Arg772="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111551"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4186,
          "referenceAllele": "C",
          "start": 4185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012791",
      "geneNCBI_id": 7486,
      "geneSymbol": "WRN",
      "hgvs": [
        "XR_949470.1:n.4186C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4186,
          "referenceAllele": "C",
          "start": 4185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012791",
      "geneNCBI_id": 7486,
      "geneSymbol": "WRN",
      "hgvs": [
        "XR_949471.1:n.4186C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142985"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4186,
          "referenceAllele": "C",
          "start": 4185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012791",
      "geneNCBI_id": 7486,
      "geneSymbol": "WRN",
      "hgvs": [
        "XR_949472.1:n.4186C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS142986"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 456,
          "endIntronDirection": "-",
          "endIntronOffset": 8795,
          "referenceAllele": "G",
          "start": 456,
          "startIntronDirection": "-",
          "startIntronOffset": 8796
        }
      ],
      "hgvs": [
        "XR_949643.1:n.457-8796G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143114"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 380,
          "endIntronDirection": "-",
          "endIntronOffset": 8795,
          "referenceAllele": "G",
          "start": 380,
          "startIntronDirection": "-",
          "startIntronOffset": 8796
        }
      ],
      "hgvs": [
        "XR_949644.1:n.381-8796G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143115"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1069,
          "endIntronDirection": "-",
          "endIntronOffset": 8795,
          "referenceAllele": "G",
          "start": 1069,
          "startIntronDirection": "-",
          "startIntronOffset": 8796
        }
      ],
      "hgvs": [
        "XR_949647.1:n.1070-8796G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143118"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 971,
          "endIntronDirection": "-",
          "endIntronOffset": 8795,
          "referenceAllele": "G",
          "start": 971,
          "startIntronDirection": "-",
          "startIntronOffset": 8796
        }
      ],
      "hgvs": [
        "XR_949648.1:n.972-8796G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143119"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074700329",
      "coordinates": [
        {
          "allele": "C",
          "end": 4701,
          "referenceAllele": "C",
          "start": 4700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012791",
      "geneNCBI_id": 7486,
      "geneSymbol": "WRN",
      "hgvs": [
        "NM_000553.5:c.3913C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000544.2:p.Arg1305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510813"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4133,
          "referenceAllele": "C",
          "start": 4132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012791",
      "geneNCBI_id": 7486,
      "geneSymbol": "WRN",
      "hgvs": [
        "XM_011544639.3:c.3832C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542941.1:p.Arg1278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4307,
          "referenceAllele": "C",
          "start": 4306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012791",
      "geneNCBI_id": 7486,
      "geneSymbol": "WRN",
      "hgvs": [
        "XM_024447265.1:c.3703C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024303033.1:p.Arg1235="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580853"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4214,
          "referenceAllele": "C",
          "start": 4213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012791",
      "geneNCBI_id": 7486,
      "geneSymbol": "WRN",
      "hgvs": [
        "XR_949470.3:n.4214C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615317"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4214,
          "referenceAllele": "C",
          "start": 4213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012791",
      "geneNCBI_id": 7486,
      "geneSymbol": "WRN",
      "hgvs": [
        "XR_949471.3:n.4214C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615318"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4214,
          "referenceAllele": "C",
          "start": 4213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012791",
      "geneNCBI_id": 7486,
      "geneSymbol": "WRN",
      "hgvs": [
        "XR_949472.3:n.4214C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615319"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074700329",
      "coordinates": [
        {
          "allele": "C",
          "end": 4153,
          "referenceAllele": "C",
          "start": 4152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012791",
      "geneNCBI_id": 7486,
      "geneSymbol": "WRN",
      "hgvs": [
        "NM_000553.6:c.3913C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000544.2:p.Arg1305="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674890",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298139.7:c.3913C="
          },
          "RefSeq": {
            "hgvs": "NM_000553.6:c.3913C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298139.5:p.Arg1305="
          },
          "RefSeq": {
            "hgvs": "NP_000544.2:p.Arg1305="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}