{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA301715014",
  "communityStandardTitle": [
    "NM_003839.4(TNFRSF11A):c.*126C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=879704[alleleid]",
        "alleleId": 879704,
        "preferredName": "NM_003839.4(TNFRSF11A):c.*126C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/892431",
        "RCV": [
          "RCV001128447",
          "RCV001128446"
        ],
        "variationId": 892431
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.60052393C>T?assembly=hg19",
        "id": "chr18:g.60052393C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.62385160C>T?assembly=hg38",
        "id": "chr18:g.62385160C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/548628692",
        "rs": 548628692
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-60052393-C-T?dataset=gnomad_r2_1",
        "id": "18-60052393-C-T",
        "variant": "18:60052393 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-62385160-C-T?dataset=gnomad_r3",
        "id": "18-62385160-C-T",
        "variant": "18:62385160 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-62385160-C-T?dataset=gnomad_r4",
        "id": "18-62385160-C-T",
        "variant": "18:62385160 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 62385160,
          "referenceAllele": "C",
          "start": 62385159
        }
      ],
      "hgvs": [
        "NC_000018.10:g.62385160C>T",
        "CM000680.2:g.62385160C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 60052393,
          "referenceAllele": "C",
          "start": 60052392
        }
      ],
      "hgvs": [
        "NC_000018.9:g.60052393C>T",
        "CM000680.1:g.60052393C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 58203373,
          "referenceAllele": "C",
          "start": 58203372
        }
      ],
      "hgvs": [
        "NC_000018.8:g.58203373C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 64846,
          "referenceAllele": "C",
          "start": 64845
        }
      ],
      "hgvs": [
        "NG_008098.1:g.64846C>T",
        "LRG_194:g.64846C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000843"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2020,
          "referenceAllele": "C",
          "start": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011908",
      "geneNCBI_id": 8792,
      "geneSymbol": "TNFRSF11A",
      "hgvs": [
        "ENST00000586569.3:c.*126C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465500.1:n.*126C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761044",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000586569.3:c.*126C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003839.4:c.*126C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000465500.1:n.*126C>T"
          },
          "RefSeq": {
            "hgvs": "NP_003830.1:n.*126C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1092,
          "referenceAllele": "C",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011908",
      "geneNCBI_id": 8792,
      "geneSymbol": "TNFRSF11A",
      "hgvs": [
        "ENST00000269485.11:c.*126C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269485.7:n.*126C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2015,
          "referenceAllele": "C",
          "start": 2014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011908",
      "geneNCBI_id": 8792,
      "geneSymbol": "TNFRSF11A",
      "hgvs": [
        "ENST00000586569.2:c.*126C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465500.1:n.*126C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1259,
          "referenceAllele": "C",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011908",
      "geneNCBI_id": 8792,
      "geneSymbol": "TNFRSF11A",
      "hgvs": [
        "ENST00000616710.4:c.*401C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479567.1:n.*401C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1206,
          "referenceAllele": "C",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011908",
      "geneNCBI_id": 8792,
      "geneSymbol": "TNFRSF11A",
      "hgvs": [
        "ENST00000617039.4:c.*126C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482466.1:n.*126C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403313"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1259,
          "referenceAllele": "C",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011908",
      "geneNCBI_id": 8792,
      "geneSymbol": "TNFRSF11A",
      "hgvs": [
        "NM_001270949.1:c.*401C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257878.1:n.*401C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020443"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1206,
          "referenceAllele": "C",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011908",
      "geneNCBI_id": 8792,
      "geneSymbol": "TNFRSF11A",
      "hgvs": [
        "NM_001270950.1:c.*126C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257879.1:n.*126C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020444"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1092,
          "referenceAllele": "C",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011908",
      "geneNCBI_id": 8792,
      "geneSymbol": "TNFRSF11A",
      "hgvs": [
        "NM_001270951.1:c.*126C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257880.1:n.*126C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020445"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2001,
          "referenceAllele": "C",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011908",
      "geneNCBI_id": 8792,
      "geneSymbol": "TNFRSF11A",
      "hgvs": [
        "NM_001278268.1:c.*126C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265197.1:n.*126C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021169"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2043,
          "referenceAllele": "C",
          "start": 2042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011908",
      "geneNCBI_id": 8792,
      "geneSymbol": "TNFRSF11A",
      "hgvs": [
        "NM_003839.3:c.*126C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003830.1:n.*126C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2007,
          "referenceAllele": "C",
          "start": 2006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011908",
      "geneNCBI_id": 8792,
      "geneSymbol": "TNFRSF11A",
      "hgvs": [
        "XM_011526244.1:c.*126C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524546.1:n.*126C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2088,
          "referenceAllele": "C",
          "start": 2087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011908",
      "geneNCBI_id": 8792,
      "geneSymbol": "TNFRSF11A",
      "hgvs": [
        "XM_011526245.1:c.*126C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524547.1:n.*126C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2155,
          "referenceAllele": "C",
          "start": 2154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011908",
      "geneNCBI_id": 8792,
      "geneSymbol": "TNFRSF11A",
      "hgvs": [
        "XR_935263.1:n.2155C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS130526"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2007,
          "referenceAllele": "C",
          "start": 2006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011908",
      "geneNCBI_id": 8792,
      "geneSymbol": "TNFRSF11A",
      "hgvs": [
        "XM_011526244.2:c.*126C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524546.1:n.*126C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2088,
          "referenceAllele": "C",
          "start": 2087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011908",
      "geneNCBI_id": 8792,
      "geneSymbol": "TNFRSF11A",
      "hgvs": [
        "XM_011526245.2:c.*126C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524547.1:n.*126C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2165,
          "referenceAllele": "C",
          "start": 2164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011908",
      "geneNCBI_id": 8792,
      "geneSymbol": "TNFRSF11A",
      "hgvs": [
        "XM_017026064.1:c.*126C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881553.1:n.*126C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2042,
          "referenceAllele": "C",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011908",
      "geneNCBI_id": 8792,
      "geneSymbol": "TNFRSF11A",
      "hgvs": [
        "XM_017026065.1:c.*126C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881554.1:n.*126C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576282"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2037,
          "referenceAllele": "C",
          "start": 2036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011908",
      "geneNCBI_id": 8792,
      "geneSymbol": "TNFRSF11A",
      "hgvs": [
        "XM_017026066.1:c.*126C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881555.1:n.*126C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2020,
          "referenceAllele": "C",
          "start": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011908",
      "geneNCBI_id": 8792,
      "geneSymbol": "TNFRSF11A",
      "hgvs": [
        "NM_003839.4:c.*126C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003830.1:n.*126C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666208",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000586569.3:c.*126C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003839.4:c.*126C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000465500.1:n.*126C>T"
          },
          "RefSeq": {
            "hgvs": "NP_003830.1:n.*126C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1069,
          "referenceAllele": "C",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011908",
      "geneNCBI_id": 8792,
      "geneSymbol": "TNFRSF11A",
      "hgvs": [
        "NM_001270951.2:c.*126C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257880.1:n.*126C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681093"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1978,
          "referenceAllele": "C",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011908",
      "geneNCBI_id": 8792,
      "geneSymbol": "TNFRSF11A",
      "hgvs": [
        "NM_001278268.2:c.*126C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265197.1:n.*126C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681434"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1236,
          "referenceAllele": "C",
          "start": 1235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011908",
      "geneNCBI_id": 8792,
      "geneSymbol": "TNFRSF11A",
      "hgvs": [
        "NM_001270949.2:c.*401C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257878.1:n.*401C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1183,
          "referenceAllele": "C",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011908",
      "geneNCBI_id": 8792,
      "geneSymbol": "TNFRSF11A",
      "hgvs": [
        "NM_001270950.2:c.*126C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257879.1:n.*126C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715220"
    }
  ],
  "type": "nucleotide"
}