{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1790178958",
  "communityStandardTitle": [
    "NM_001242318.3(PDE7A):c.696+2316C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10808746",
        "rs": 10808746
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 65732478,
          "referenceAllele": "G",
          "start": 65732477
        }
      ],
      "hgvs": [
        "NC_000008.11:g.65732478G=",
        "CM000670.2:g.65732478G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 66644713,
          "referenceAllele": "G",
          "start": 66644712
        }
      ],
      "hgvs": [
        "NC_000008.10:g.66644713G=",
        "CM000670.1:g.66644713G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 66807267,
          "referenceAllele": "G",
          "start": 66807266
        }
      ],
      "hgvs": [
        "NC_000008.9:g.66807267G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 114257,
          "referenceAllele": "C",
          "start": 114256
        }
      ],
      "hgvs": [
        "NG_029614.1:g.114257C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 93606,
          "referenceAllele": "G",
          "start": 93605
        }
      ],
      "hgvs": [
        "NG_047112.1:g.93606G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616634"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1252,
          "endIntronDirection": "+",
          "endIntronOffset": 2316,
          "referenceAllele": "C",
          "start": 1252,
          "startIntronDirection": "+",
          "startIntronOffset": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008791",
      "geneNCBI_id": 5150,
      "geneSymbol": "PDE7A",
      "hgvs": [
        "ENST00000401827.8:c.696+2316C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385632.4:n.696+2316C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753981",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000401827.8:c.696+2316C="
          },
          "RefSeq": {
            "hgvs": "NM_001242318.3:c.696+2316C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385632.4:n.696+2316C="
          },
          "RefSeq": {
            "hgvs": "NP_001229247.1:n.696+2316C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 761,
          "endIntronDirection": "+",
          "endIntronOffset": 2316,
          "referenceAllele": "C",
          "start": 761,
          "startIntronDirection": "+",
          "startIntronOffset": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008791",
      "geneNCBI_id": 5150,
      "geneSymbol": "PDE7A",
      "hgvs": [
        "ENST00000379419.8:c.618+2316C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368730.4:n.618+2316C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272491"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 696,
          "endIntronDirection": "+",
          "endIntronOffset": 2316,
          "referenceAllele": "C",
          "start": 696,
          "startIntronDirection": "+",
          "startIntronOffset": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008791",
      "geneNCBI_id": 5150,
      "geneSymbol": "PDE7A",
      "hgvs": [
        "ENST00000396642.7:c.696+2316C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379881.3:n.696+2316C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1140,
          "endIntronDirection": "+",
          "endIntronOffset": 2316,
          "referenceAllele": "C",
          "start": 1140,
          "startIntronDirection": "+",
          "startIntronOffset": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008791",
      "geneNCBI_id": 5150,
      "geneSymbol": "PDE7A",
      "hgvs": [
        "ENST00000401827.7:c.696+2316C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385632.3:n.696+2316C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279333"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 542,
          "endIntronDirection": "-",
          "endIntronOffset": 846,
          "referenceAllele": "C",
          "start": 542,
          "startIntronDirection": "-",
          "startIntronOffset": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008791",
      "geneNCBI_id": 5150,
      "geneSymbol": "PDE7A",
      "hgvs": [
        "ENST00000518667.1:n.543-847C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 483,
          "endIntronDirection": "+",
          "endIntronOffset": 12997,
          "referenceAllele": "G",
          "start": 483,
          "startIntronDirection": "+",
          "startIntronOffset": 12996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029510",
      "geneNCBI_id": 9650,
      "geneSymbol": "MTFR1",
      "hgvs": [
        "ENST00000521247.6:c.483+12997G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429253.2:n.483+12997G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS348104"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 373,
          "endIntronDirection": "+",
          "endIntronOffset": 24467,
          "referenceAllele": "G",
          "start": 373,
          "startIntronDirection": "+",
          "startIntronOffset": 24466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029510",
      "geneNCBI_id": 9650,
      "geneSymbol": "MTFR1",
      "hgvs": [
        "ENST00000527155.5:c.373+24467G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352907"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 922,
          "endIntronDirection": "+",
          "endIntronOffset": 2316,
          "referenceAllele": "C",
          "start": 922,
          "startIntronDirection": "+",
          "startIntronOffset": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008791",
      "geneNCBI_id": 5150,
      "geneSymbol": "PDE7A",
      "hgvs": [
        "NM_001242318.2:c.696+2316C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001229247.1:n.696+2316C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 771,
          "endIntronDirection": "+",
          "endIntronOffset": 2316,
          "referenceAllele": "C",
          "start": 771,
          "startIntronDirection": "+",
          "startIntronOffset": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008791",
      "geneNCBI_id": 5150,
      "geneSymbol": "PDE7A",
      "hgvs": [
        "NM_002603.3:c.618+2316C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002594.1:n.618+2316C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027903"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1117,
          "endIntronDirection": "+",
          "endIntronOffset": 24467,
          "referenceAllele": "G",
          "start": 1117,
          "startIntronDirection": "+",
          "startIntronOffset": 24466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029510",
      "geneNCBI_id": 9650,
      "geneSymbol": "MTFR1",
      "hgvs": [
        "XM_006716484.2:c.933+24467G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006716547.2:n.933+24467G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071700"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 714,
          "endIntronDirection": "+",
          "endIntronOffset": 2316,
          "referenceAllele": "C",
          "start": 714,
          "startIntronDirection": "+",
          "startIntronOffset": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008791",
      "geneNCBI_id": 5150,
      "geneSymbol": "PDE7A",
      "hgvs": [
        "XM_011517540.1:c.618+2316C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515842.1:n.618+2316C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084731"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1099,
          "endIntronDirection": "+",
          "endIntronOffset": 24467,
          "referenceAllele": "G",
          "start": 1099,
          "startIntronDirection": "+",
          "startIntronOffset": 24466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029510",
      "geneNCBI_id": 9650,
      "geneSymbol": "MTFR1",
      "hgvs": [
        "XM_011517626.1:c.933+24467G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515928.1:n.933+24467G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084814"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1034,
          "endIntronDirection": "+",
          "endIntronOffset": 24467,
          "referenceAllele": "G",
          "start": 1034,
          "startIntronDirection": "+",
          "startIntronOffset": 24466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029510",
      "geneNCBI_id": 9650,
      "geneSymbol": "MTFR1",
      "hgvs": [
        "XM_011517627.1:c.933+24467G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515929.1:n.933+24467G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084815"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1010,
          "endIntronDirection": "+",
          "endIntronOffset": 24467,
          "referenceAllele": "G",
          "start": 1010,
          "startIntronDirection": "+",
          "startIntronOffset": 24466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029510",
      "geneNCBI_id": 9650,
      "geneSymbol": "MTFR1",
      "hgvs": [
        "XM_011517628.1:c.894+24467G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515930.1:n.894+24467G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084816"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 716,
          "endIntronDirection": "+",
          "endIntronOffset": 2316,
          "referenceAllele": "C",
          "start": 716,
          "startIntronDirection": "+",
          "startIntronOffset": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008791",
      "geneNCBI_id": 5150,
      "geneSymbol": "PDE7A",
      "hgvs": [
        "XM_011517540.3:c.618+2316C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515842.1:n.618+2316C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544572"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1065,
          "endIntronDirection": "+",
          "endIntronOffset": 24467,
          "referenceAllele": "G",
          "start": 1065,
          "startIntronDirection": "+",
          "startIntronOffset": 24466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029510",
      "geneNCBI_id": 9650,
      "geneSymbol": "MTFR1",
      "hgvs": [
        "XM_011517626.2:c.933+24467G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515928.1:n.933+24467G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544618"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1034,
          "endIntronDirection": "+",
          "endIntronOffset": 24467,
          "referenceAllele": "G",
          "start": 1034,
          "startIntronDirection": "+",
          "startIntronOffset": 24466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029510",
      "geneNCBI_id": 9650,
      "geneSymbol": "MTFR1",
      "hgvs": [
        "XM_011517627.3:c.933+24467G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515929.1:n.933+24467G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544619"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1252,
          "endIntronDirection": "+",
          "endIntronOffset": 24467,
          "referenceAllele": "G",
          "start": 1252,
          "startIntronDirection": "+",
          "startIntronOffset": 24466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029510",
      "geneNCBI_id": 9650,
      "geneSymbol": "MTFR1",
      "hgvs": [
        "XM_011517628.2:c.894+24467G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515930.1:n.894+24467G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544620"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1282,
          "endIntronDirection": "+",
          "endIntronOffset": 2316,
          "referenceAllele": "C",
          "start": 1282,
          "startIntronDirection": "+",
          "startIntronOffset": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008791",
      "geneNCBI_id": 5150,
      "geneSymbol": "PDE7A",
      "hgvs": [
        "XM_017013538.2:c.594+2316C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016869027.1:n.594+2316C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566811"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1252,
          "endIntronDirection": "+",
          "endIntronOffset": 2316,
          "referenceAllele": "C",
          "start": 1252,
          "startIntronDirection": "+",
          "startIntronOffset": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008791",
      "geneNCBI_id": 5150,
      "geneSymbol": "PDE7A",
      "hgvs": [
        "NM_001242318.3:c.696+2316C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001229247.1:n.696+2316C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680050",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000401827.8:c.696+2316C="
          },
          "RefSeq": {
            "hgvs": "NM_001242318.3:c.696+2316C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385632.4:n.696+2316C="
          },
          "RefSeq": {
            "hgvs": "NP_001229247.1:n.696+2316C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 734,
          "endIntronDirection": "+",
          "endIntronOffset": 2316,
          "referenceAllele": "C",
          "start": 734,
          "startIntronDirection": "+",
          "startIntronOffset": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008791",
      "geneNCBI_id": 5150,
      "geneSymbol": "PDE7A",
      "hgvs": [
        "NM_002603.4:c.618+2316C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002594.1:n.618+2316C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695586"
    }
  ],
  "type": "nucleotide"
}