{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA14065161",
  "communityStandardTitle": [
    "NM_153046.3(TDRD9):c.3974+552C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.104509076C>T?assembly=hg19",
        "id": "chr14:g.104509076C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.104042739C>T?assembly=hg38",
        "id": "chr14:g.104042739C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11622475",
        "rs": 11622475
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-104509076-C-T?dataset=gnomad_r2_1",
        "id": "14-104509076-C-T",
        "variant": "14:104509076 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-104042739-C-T?dataset=gnomad_r3",
        "id": "14-104042739-C-T",
        "variant": "14:104042739 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-104042739-C-T?dataset=gnomad_r4",
        "id": "14-104042739-C-T",
        "variant": "14:104042739 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 104042739,
          "referenceAllele": "C",
          "start": 104042738
        }
      ],
      "hgvs": [
        "NC_000014.9:g.104042739C>T",
        "CM000676.2:g.104042739C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 104509076,
          "referenceAllele": "C",
          "start": 104509075
        }
      ],
      "hgvs": [
        "NC_000014.8:g.104509076C>T",
        "CM000676.1:g.104509076C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 103578829,
          "referenceAllele": "C",
          "start": 103578828
        }
      ],
      "hgvs": [
        "NC_000014.7:g.103578829C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4028,
          "endIntronDirection": "+",
          "endIntronOffset": 552,
          "referenceAllele": "C",
          "start": 4028,
          "startIntronDirection": "+",
          "startIntronOffset": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020122",
      "geneNCBI_id": 122402,
      "geneSymbol": "TDRD9",
      "hgvs": [
        "ENST00000409874.9:c.3974+552C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387303.4:n.3974+552C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754343",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409874.9:c.3974+552C>T"
          },
          "RefSeq": {
            "hgvs": "NM_153046.3:c.3974+552C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387303.4:n.3974+552C>T"
          },
          "RefSeq": {
            "hgvs": "NP_694591.2:n.3974+552C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3142,
          "endIntronDirection": "+",
          "endIntronOffset": 552,
          "referenceAllele": "C",
          "start": 3142,
          "startIntronDirection": "+",
          "startIntronOffset": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020122",
      "geneNCBI_id": 122402,
      "geneSymbol": "TDRD9",
      "hgvs": [
        "ENST00000339063.6:c.*484+552C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343545.6:n.*484+552C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4022,
          "endIntronDirection": "+",
          "endIntronOffset": 552,
          "referenceAllele": "C",
          "start": 4022,
          "startIntronDirection": "+",
          "startIntronOffset": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020122",
      "geneNCBI_id": 122402,
      "geneSymbol": "TDRD9",
      "hgvs": [
        "ENST00000409874.8:c.3974+552C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387303.4:n.3974+552C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2580,
          "endIntronDirection": "+",
          "endIntronOffset": 552,
          "referenceAllele": "C",
          "start": 2580,
          "startIntronDirection": "+",
          "startIntronOffset": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020122",
      "geneNCBI_id": 122402,
      "geneSymbol": "TDRD9",
      "hgvs": [
        "ENST00000557332.5:c.2580+552C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372941"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4004,
          "endIntronDirection": "+",
          "endIntronOffset": 552,
          "referenceAllele": "C",
          "start": 4004,
          "startIntronDirection": "+",
          "startIntronOffset": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020122",
      "geneNCBI_id": 122402,
      "geneSymbol": "TDRD9",
      "hgvs": [
        "NM_153046.2:c.3974+552C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_694591.2:n.3974+552C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3890,
          "endIntronDirection": "+",
          "endIntronOffset": 552,
          "referenceAllele": "C",
          "start": 3890,
          "startIntronDirection": "+",
          "startIntronOffset": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020122",
      "geneNCBI_id": 122402,
      "geneSymbol": "TDRD9",
      "hgvs": [
        "XM_005267309.2:c.3818+552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267366.1:n.3818+552C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065364"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4046,
          "endIntronDirection": "+",
          "endIntronOffset": 552,
          "referenceAllele": "C",
          "start": 4046,
          "startIntronDirection": "+",
          "startIntronOffset": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020122",
      "geneNCBI_id": 122402,
      "geneSymbol": "TDRD9",
      "hgvs": [
        "XM_006720019.2:c.3974+552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720082.1:n.3974+552C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073455"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3965,
          "endIntronDirection": "+",
          "endIntronOffset": 552,
          "referenceAllele": "C",
          "start": 3965,
          "startIntronDirection": "+",
          "startIntronOffset": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020122",
      "geneNCBI_id": 122402,
      "geneSymbol": "TDRD9",
      "hgvs": [
        "XM_006720020.2:c.3893+552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720083.1:n.3893+552C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073456"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4046,
          "endIntronDirection": "+",
          "endIntronOffset": 552,
          "referenceAllele": "C",
          "start": 4046,
          "startIntronDirection": "+",
          "startIntronOffset": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020122",
      "geneNCBI_id": 122402,
      "geneSymbol": "TDRD9",
      "hgvs": [
        "XM_011536396.1:c.3974+552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534698.1:n.3974+552C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3941,
          "endIntronDirection": "+",
          "endIntronOffset": 552,
          "referenceAllele": "C",
          "start": 3941,
          "startIntronDirection": "+",
          "startIntronOffset": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020122",
      "geneNCBI_id": 122402,
      "geneSymbol": "TDRD9",
      "hgvs": [
        "XM_011536397.1:c.3869+552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534699.1:n.3869+552C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3942,
          "endIntronDirection": "+",
          "endIntronOffset": 552,
          "referenceAllele": "C",
          "start": 3942,
          "startIntronDirection": "+",
          "startIntronOffset": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020122",
      "geneNCBI_id": 122402,
      "geneSymbol": "TDRD9",
      "hgvs": [
        "XM_011536398.1:c.3860+552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534700.1:n.3860+552C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3791,
          "endIntronDirection": "+",
          "endIntronOffset": 552,
          "referenceAllele": "C",
          "start": 3791,
          "startIntronDirection": "+",
          "startIntronOffset": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020122",
      "geneNCBI_id": 122402,
      "geneSymbol": "TDRD9",
      "hgvs": [
        "XM_011536399.1:c.3776+552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534701.1:n.3776+552C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103386"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3785,
          "endIntronDirection": "+",
          "endIntronOffset": 552,
          "referenceAllele": "C",
          "start": 3785,
          "startIntronDirection": "+",
          "startIntronOffset": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020122",
      "geneNCBI_id": 122402,
      "geneSymbol": "TDRD9",
      "hgvs": [
        "XM_011536400.1:c.3713+552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534702.1:n.3713+552C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103387"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3879,
          "endIntronDirection": "+",
          "endIntronOffset": 552,
          "referenceAllele": "C",
          "start": 3879,
          "startIntronDirection": "+",
          "startIntronOffset": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020122",
      "geneNCBI_id": 122402,
      "geneSymbol": "TDRD9",
      "hgvs": [
        "XM_011536401.1:c.3287+552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534703.1:n.3287+552C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2978,
          "endIntronDirection": "+",
          "endIntronOffset": 552,
          "referenceAllele": "C",
          "start": 2978,
          "startIntronDirection": "+",
          "startIntronOffset": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020122",
      "geneNCBI_id": 122402,
      "geneSymbol": "TDRD9",
      "hgvs": [
        "XM_011536402.1:c.2888+552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534704.1:n.2888+552C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103389"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3985,
          "endIntronDirection": "+",
          "endIntronOffset": 552,
          "referenceAllele": "C",
          "start": 3985,
          "startIntronDirection": "+",
          "startIntronOffset": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020122",
      "geneNCBI_id": 122402,
      "geneSymbol": "TDRD9",
      "hgvs": [
        "XM_005267309.4:c.3818+552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267366.1:n.3818+552C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4141,
          "endIntronDirection": "+",
          "endIntronOffset": 552,
          "referenceAllele": "C",
          "start": 4141,
          "startIntronDirection": "+",
          "startIntronOffset": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020122",
      "geneNCBI_id": 122402,
      "geneSymbol": "TDRD9",
      "hgvs": [
        "XM_006720019.3:c.3974+552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720082.1:n.3974+552C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4060,
          "endIntronDirection": "+",
          "endIntronOffset": 552,
          "referenceAllele": "C",
          "start": 4060,
          "startIntronDirection": "+",
          "startIntronOffset": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020122",
      "geneNCBI_id": 122402,
      "geneSymbol": "TDRD9",
      "hgvs": [
        "XM_006720020.3:c.3893+552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720083.1:n.3893+552C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4036,
          "endIntronDirection": "+",
          "endIntronOffset": 552,
          "referenceAllele": "C",
          "start": 4036,
          "startIntronDirection": "+",
          "startIntronOffset": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020122",
      "geneNCBI_id": 122402,
      "geneSymbol": "TDRD9",
      "hgvs": [
        "XM_011536397.2:c.3869+552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534699.1:n.3869+552C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552474"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3947,
          "endIntronDirection": "+",
          "endIntronOffset": 552,
          "referenceAllele": "C",
          "start": 3947,
          "startIntronDirection": "+",
          "startIntronOffset": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020122",
      "geneNCBI_id": 122402,
      "geneSymbol": "TDRD9",
      "hgvs": [
        "XM_011536398.3:c.3860+552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534700.1:n.3860+552C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3880,
          "endIntronDirection": "+",
          "endIntronOffset": 552,
          "referenceAllele": "C",
          "start": 3880,
          "startIntronDirection": "+",
          "startIntronOffset": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020122",
      "geneNCBI_id": 122402,
      "geneSymbol": "TDRD9",
      "hgvs": [
        "XM_011536400.2:c.3713+552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534702.1:n.3713+552C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3874,
          "endIntronDirection": "+",
          "endIntronOffset": 552,
          "referenceAllele": "C",
          "start": 3874,
          "startIntronDirection": "+",
          "startIntronOffset": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020122",
      "geneNCBI_id": 122402,
      "geneSymbol": "TDRD9",
      "hgvs": [
        "XM_011536401.3:c.3287+552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534703.1:n.3287+552C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552477"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2977,
          "endIntronDirection": "+",
          "endIntronOffset": 552,
          "referenceAllele": "C",
          "start": 2977,
          "startIntronDirection": "+",
          "startIntronOffset": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020122",
      "geneNCBI_id": 122402,
      "geneSymbol": "TDRD9",
      "hgvs": [
        "XM_011536402.2:c.2888+552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534704.1:n.2888+552C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552478"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3735,
          "endIntronDirection": "+",
          "endIntronOffset": 552,
          "referenceAllele": "C",
          "start": 3735,
          "startIntronDirection": "+",
          "startIntronOffset": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020122",
      "geneNCBI_id": 122402,
      "geneSymbol": "TDRD9",
      "hgvs": [
        "XM_017020955.2:c.2732+552C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876444.1:n.2732+552C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572296"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4028,
          "endIntronDirection": "+",
          "endIntronOffset": 552,
          "referenceAllele": "C",
          "start": 4028,
          "startIntronDirection": "+",
          "startIntronOffset": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020122",
      "geneNCBI_id": 122402,
      "geneSymbol": "TDRD9",
      "hgvs": [
        "NM_153046.3:c.3974+552C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_694591.2:n.3974+552C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672491",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409874.9:c.3974+552C>T"
          },
          "RefSeq": {
            "hgvs": "NM_153046.3:c.3974+552C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387303.4:n.3974+552C>T"
          },
          "RefSeq": {
            "hgvs": "NP_694591.2:n.3974+552C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}