{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA292713",
  "communityStandardTitle": [
    "NM_000283.4(PDE6B):c.711+10C>T"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4969589"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=142341[alleleid]",
        "alleleId": 142341,
        "preferredName": "NM_000283.4(PDE6B):c.711+10C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/138638",
        "RCV": [
          "RCV000127389",
          "RCV000313689",
          "RCV000395859",
          "RCV000971875"
        ],
        "variationId": 138638
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-629768-C-T",
        "id": "4-629768-C-T",
        "variant": "4:629768 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.629768C>T?assembly=hg19",
        "id": "chr4:g.629768C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.635979C>T?assembly=hg38",
        "id": "chr4:g.635979C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201100689",
        "rs": 201100689
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-629768-C-T?dataset=gnomad_r2_1",
        "id": "4-629768-C-T",
        "variant": "4:629768 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-635979-C-T?dataset=gnomad_r3",
        "id": "4-635979-C-T",
        "variant": "4:635979 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-635979-C-T?dataset=gnomad_r4",
        "id": "4-635979-C-T",
        "variant": "4:635979 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 635979,
          "referenceAllele": "C",
          "start": 635978
        }
      ],
      "hgvs": [
        "NC_000004.12:g.635979C>T",
        "CM000666.2:g.635979C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 629768,
          "referenceAllele": "C",
          "start": 629767
        }
      ],
      "hgvs": [
        "NC_000004.11:g.629768C>T",
        "CM000666.1:g.629768C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 619768,
          "referenceAllele": "C",
          "start": 619767
        }
      ],
      "hgvs": [
        "NC_000004.10:g.619768C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15406,
          "referenceAllele": "C",
          "start": 15405
        }
      ],
      "hgvs": [
        "NG_009839.1:g.15406C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001671"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 765,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "C",
          "start": 765,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000496514.6:c.711+10C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420295.1:n.711+10C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757834",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000496514.6:c.711+10C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000283.4:c.711+10C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000420295.1:n.711+10C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000274.3:n.711+10C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 754,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "C",
          "start": 754,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000255622.10:c.711+10C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255622.6:n.711+10C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 732,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "C",
          "start": 732,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000496514.5:c.711+10C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420295.1:n.711+10C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332956"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 764,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "C",
          "start": 764,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_000283.3:c.711+10C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000274.2:n.711+10C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 764,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "C",
          "start": 764,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001145291.1:c.711+10C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138763.1:n.711+10C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013566"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2299,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "C",
          "start": 2299,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513473.1:c.930+10C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511775.1:n.930+10C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080720"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2299,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "C",
          "start": 2299,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513474.1:c.930+10C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511776.1:n.930+10C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2136,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "C",
          "start": 2136,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513475.1:c.711+10C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511777.1:n.711+10C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2299,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "C",
          "start": 2299,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513476.1:c.930+10C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511778.1:n.930+10C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2299,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "C",
          "start": 2299,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513473.3:c.930+10C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511775.1:n.930+10C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2299,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "C",
          "start": 2299,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513474.3:c.930+10C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511776.1:n.930+10C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2134,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "C",
          "start": 2134,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513475.2:c.711+10C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511777.1:n.711+10C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542929"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2299,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "C",
          "start": 2299,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513476.3:c.930+10C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511778.1:n.930+10C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542930"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 765,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "C",
          "start": 765,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_000283.4:c.711+10C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000274.3:n.711+10C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710821",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000496514.6:c.711+10C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000283.4:c.711+10C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000420295.1:n.711+10C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000274.3:n.711+10C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 765,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "C",
          "start": 765,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001145291.2:c.711+10C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138763.2:n.711+10C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712791"
    }
  ],
  "type": "nucleotide"
}