{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA207387",
  "communityStandardTitle": [
    "NM_153240.5(NPHP3):c.2089-9C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=207045[alleleid]",
        "alleleId": 207045,
        "preferredName": "NM_153240.5(NPHP3):c.2089-9C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/211684",
        "RCV": [
          "RCV000193710",
          "RCV000535033",
          "RCV001149549",
          "RCV001149550",
          "RCV001149551",
          "RCV001705082"
        ],
        "variationId": 211684
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-132415666-G-A",
        "id": "3-132415666-G-A",
        "variant": "3:132415666 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.132415666G>A?assembly=hg19",
        "id": "chr3:g.132415666G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.132696822G>A?assembly=hg38",
        "id": "chr3:g.132696822G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/141397228",
        "rs": 141397228
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-132415666-G-A?dataset=gnomad_r2_1",
        "id": "3-132415666-G-A",
        "variant": "3:132415666 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-132696822-G-A?dataset=gnomad_r3",
        "id": "3-132696822-G-A",
        "variant": "3:132696822 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-132696822-G-A?dataset=gnomad_r4",
        "id": "3-132696822-G-A",
        "variant": "3:132696822 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 132696822,
          "referenceAllele": "G",
          "start": 132696821
        }
      ],
      "hgvs": [
        "NC_000003.12:g.132696822G>A",
        "CM000665.2:g.132696822G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 132415666,
          "referenceAllele": "G",
          "start": 132415665
        }
      ],
      "hgvs": [
        "NC_000003.11:g.132415666G>A",
        "CM000665.1:g.132415666G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 133898356,
          "referenceAllele": "G",
          "start": 133898355
        }
      ],
      "hgvs": [
        "NC_000003.10:g.133898356G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 30611,
          "referenceAllele": "C",
          "start": 30610
        }
      ],
      "hgvs": [
        "NG_008130.1:g.30611C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000875"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 30611,
          "referenceAllele": "C",
          "start": 30610
        }
      ],
      "hgvs": [
        "NG_008130.2:g.30611C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673489"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1745,
          "endIntronDirection": "+",
          "endIntronOffset": 438,
          "referenceAllele": "C",
          "start": 1745,
          "startIntronDirection": "+",
          "startIntronOffset": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007907",
      "geneNCBI_id": 27031,
      "geneSymbol": "NPHP3",
      "hgvs": [
        "ENST00000684294.1:c.*79+438C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508078.1:n.*79+438C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2142,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 2142,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007907",
      "geneNCBI_id": 27031,
      "geneSymbol": "NPHP3",
      "hgvs": [
        "ENST00000337331.10:c.2089-9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338766.5:n.2089-9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747646",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000337331.10:c.2089-9C>T"
          },
          "RefSeq": {
            "hgvs": "NM_153240.5:c.2089-9C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338766.5:n.2089-9C>T"
          },
          "RefSeq": {
            "hgvs": "NP_694972.3:n.2089-9C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2175,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 2175,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007907",
      "geneNCBI_id": 27031,
      "geneSymbol": "NPHP3",
      "hgvs": [
        "ENST00000337331.9:c.2089-9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338766.5:n.2089-9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260451"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1745,
          "endIntronDirection": "+",
          "endIntronOffset": 438,
          "referenceAllele": "C",
          "start": 1745,
          "startIntronDirection": "+",
          "startIntronOffset": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007907",
      "geneNCBI_id": 27031,
      "geneSymbol": "NPHP3",
      "hgvs": [
        "ENST00000465756.5:c.*79+438C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419907.1:n.*79+438C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS309293"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2094,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 2094,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048351",
      "geneNCBI_id": 100532724,
      "geneSymbol": "NPHP3-ACAD11",
      "hgvs": [
        "ENST00000471702.2:c.*80-9C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419763.1:n.*80-9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1766,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 1766,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007907",
      "geneNCBI_id": 27031,
      "geneSymbol": "NPHP3",
      "hgvs": [
        "ENST00000490993.5:n.1767-9C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2192,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 2192,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007907",
      "geneNCBI_id": 27031,
      "geneSymbol": "NPHP3",
      "hgvs": [
        "NM_153240.4:c.2089-9C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_694972.3:n.2089-9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2094,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 2094,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048351",
      "geneNCBI_id": 100532724,
      "geneSymbol": "NPHP3-ACAD11",
      "hgvs": [
        "NR_037804.1:n.2095-9C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2142,
          "endIntronDirection": "-",
          "endIntronOffset": 8,
          "referenceAllele": "C",
          "start": 2142,
          "startIntronDirection": "-",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007907",
      "geneNCBI_id": 27031,
      "geneSymbol": "NPHP3",
      "hgvs": [
        "NM_153240.5:c.2089-9C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_694972.3:n.2089-9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672509",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000337331.10:c.2089-9C>T"
          },
          "RefSeq": {
            "hgvs": "NM_153240.5:c.2089-9C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338766.5:n.2089-9C>T"
          },
          "RefSeq": {
            "hgvs": "NP_694972.3:n.2089-9C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}