{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA14760160",
  "communityStandardTitle": [
    "NM_001290268.2(RIPOR3):c.2662-666C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.49205095G>A?assembly=hg19",
        "id": "chr20:g.49205095G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.50588558G>A?assembly=hg38",
        "id": "chr20:g.50588558G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060402",
        "rs": 1060402
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-49205095-G-A?dataset=gnomad_r2_1",
        "id": "20-49205095-G-A",
        "variant": "20:49205095 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-50588558-G-A?dataset=gnomad_r3",
        "id": "20-50588558-G-A",
        "variant": "20:50588558 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-50588558-G-A?dataset=gnomad_r4",
        "id": "20-50588558-G-A",
        "variant": "20:50588558 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 50588558,
          "referenceAllele": "G",
          "start": 50588557
        }
      ],
      "hgvs": [
        "NC_000020.11:g.50588558G>A",
        "CM000682.2:g.50588558G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 49205095,
          "referenceAllele": "G",
          "start": 49205094
        }
      ],
      "hgvs": [
        "NC_000020.10:g.49205095G>A",
        "CM000682.1:g.49205095G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "A",
          "end": 48638502,
          "referenceAllele": "G",
          "start": 48638501
        }
      ],
      "hgvs": [
        "NC_000020.9:g.48638502G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 107973,
          "referenceAllele": "C",
          "start": 107972
        }
      ],
      "hgvs": [
        "NG_034040.1:g.107973C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005700"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3075,
          "endIntronDirection": "-",
          "endIntronOffset": 665,
          "referenceAllele": "C",
          "start": 3075,
          "startIntronDirection": "-",
          "startIntronOffset": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016168",
      "geneNCBI_id": 140876,
      "geneSymbol": "RIPOR3",
      "hgvs": [
        "ENST00000327979.8:c.2662-666C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332663.3:n.2662-666C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746879",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327979.8:c.2662-666C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001290268.2:c.2662-666C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332663.3:n.2662-666C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001277197.1:n.2662-666C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2967,
          "endIntronDirection": "-",
          "endIntronOffset": 665,
          "referenceAllele": "C",
          "start": 2967,
          "startIntronDirection": "-",
          "startIntronOffset": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016168",
      "geneNCBI_id": 140876,
      "geneSymbol": "RIPOR3",
      "hgvs": [
        "ENST00000045083.6:c.2650-666C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000045083.2:n.2650-666C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247550"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3061,
          "endIntronDirection": "-",
          "endIntronOffset": 665,
          "referenceAllele": "C",
          "start": 3061,
          "startIntronDirection": "-",
          "startIntronOffset": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016168",
      "geneNCBI_id": 140876,
      "geneSymbol": "RIPOR3",
      "hgvs": [
        "ENST00000327979.6:c.2650-666C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332663.2:n.2650-666C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258847"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 327,
          "endIntronDirection": "-",
          "endIntronOffset": 665,
          "referenceAllele": "C",
          "start": 327,
          "startIntronDirection": "-",
          "startIntronOffset": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016168",
      "geneNCBI_id": 140876,
      "geneSymbol": "RIPOR3",
      "hgvs": [
        "ENST00000462842.1:n.328-666C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3063,
          "endIntronDirection": "-",
          "endIntronOffset": 665,
          "referenceAllele": "C",
          "start": 3063,
          "startIntronDirection": "-",
          "startIntronOffset": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016168",
      "geneNCBI_id": 140876,
      "geneSymbol": "RIPOR3",
      "hgvs": [
        "NM_001290268.1:c.2662-666C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001277197.1:n.2662-666C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024100"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2996,
          "endIntronDirection": "-",
          "endIntronOffset": 665,
          "referenceAllele": "C",
          "start": 2996,
          "startIntronDirection": "-",
          "startIntronOffset": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016168",
      "geneNCBI_id": 140876,
      "geneSymbol": "RIPOR3",
      "hgvs": [
        "NM_080829.3:c.2650-666C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_543019.2:n.2650-666C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3222,
          "endIntronDirection": "-",
          "endIntronOffset": 665,
          "referenceAllele": "C",
          "start": 3222,
          "startIntronDirection": "-",
          "startIntronOffset": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016168",
      "geneNCBI_id": 140876,
      "geneSymbol": "RIPOR3",
      "hgvs": [
        "NR_110890.1:n.3223-666C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3060,
          "endIntronDirection": "-",
          "endIntronOffset": 665,
          "referenceAllele": "C",
          "start": 3060,
          "startIntronDirection": "-",
          "startIntronOffset": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016168",
      "geneNCBI_id": 140876,
      "geneSymbol": "RIPOR3",
      "hgvs": [
        "XM_005260294.3:c.2662-666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260351.1:n.2662-666C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3112,
          "endIntronDirection": "-",
          "endIntronOffset": 665,
          "referenceAllele": "C",
          "start": 3112,
          "startIntronDirection": "-",
          "startIntronOffset": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016168",
      "geneNCBI_id": 140876,
      "geneSymbol": "RIPOR3",
      "hgvs": [
        "XM_006723713.2:c.2647-666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723776.1:n.2647-666C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3062,
          "endIntronDirection": "-",
          "endIntronOffset": 665,
          "referenceAllele": "C",
          "start": 3062,
          "startIntronDirection": "-",
          "startIntronOffset": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016168",
      "geneNCBI_id": 140876,
      "geneSymbol": "RIPOR3",
      "hgvs": [
        "XM_011528578.1:c.2662-666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526880.1:n.2662-666C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095649"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3230,
          "endIntronDirection": "-",
          "endIntronOffset": 665,
          "referenceAllele": "C",
          "start": 3230,
          "startIntronDirection": "-",
          "startIntronOffset": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016168",
      "geneNCBI_id": 140876,
      "geneSymbol": "RIPOR3",
      "hgvs": [
        "XM_011528579.1:c.2650-666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526881.1:n.2650-666C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095650"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3284,
          "endIntronDirection": "-",
          "endIntronOffset": 665,
          "referenceAllele": "C",
          "start": 3284,
          "startIntronDirection": "-",
          "startIntronOffset": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016168",
      "geneNCBI_id": 140876,
      "geneSymbol": "RIPOR3",
      "hgvs": [
        "XM_011528580.1:c.2650-666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526882.1:n.2650-666C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3268,
          "endIntronDirection": "-",
          "endIntronOffset": 665,
          "referenceAllele": "C",
          "start": 3268,
          "startIntronDirection": "-",
          "startIntronOffset": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016168",
      "geneNCBI_id": 140876,
      "geneSymbol": "RIPOR3",
      "hgvs": [
        "XM_011528581.1:c.2650-666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526883.1:n.2650-666C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095652"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2041,
          "endIntronDirection": "-",
          "endIntronOffset": 665,
          "referenceAllele": "C",
          "start": 2041,
          "startIntronDirection": "-",
          "startIntronOffset": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016168",
      "geneNCBI_id": 140876,
      "geneSymbol": "RIPOR3",
      "hgvs": [
        "XM_011528582.1:c.1972-666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526884.1:n.1972-666C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095653"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2083,
          "endIntronDirection": "-",
          "endIntronOffset": 665,
          "referenceAllele": "C",
          "start": 2083,
          "startIntronDirection": "-",
          "startIntronOffset": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016168",
      "geneNCBI_id": 140876,
      "geneSymbol": "RIPOR3",
      "hgvs": [
        "XM_011528585.1:c.1651-666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526887.1:n.1651-666C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095656"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3109,
          "endIntronDirection": "-",
          "endIntronOffset": 665,
          "referenceAllele": "C",
          "start": 3109,
          "startIntronDirection": "-",
          "startIntronOffset": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016168",
      "geneNCBI_id": 140876,
      "geneSymbol": "RIPOR3",
      "hgvs": [
        "XM_006723713.4:c.2647-666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723776.1:n.2647-666C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3088,
          "endIntronDirection": "-",
          "endIntronOffset": 665,
          "referenceAllele": "C",
          "start": 3088,
          "startIntronDirection": "-",
          "startIntronOffset": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016168",
      "geneNCBI_id": 140876,
      "geneSymbol": "RIPOR3",
      "hgvs": [
        "XM_011528578.2:c.2662-666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526880.1:n.2662-666C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549175"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3226,
          "endIntronDirection": "-",
          "endIntronOffset": 665,
          "referenceAllele": "C",
          "start": 3226,
          "startIntronDirection": "-",
          "startIntronOffset": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016168",
      "geneNCBI_id": 140876,
      "geneSymbol": "RIPOR3",
      "hgvs": [
        "XM_011528579.2:c.2650-666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526881.1:n.2650-666C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3280,
          "endIntronDirection": "-",
          "endIntronOffset": 665,
          "referenceAllele": "C",
          "start": 3280,
          "startIntronDirection": "-",
          "startIntronOffset": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016168",
      "geneNCBI_id": 140876,
      "geneSymbol": "RIPOR3",
      "hgvs": [
        "XM_011528580.2:c.2650-666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526882.1:n.2650-666C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3264,
          "endIntronDirection": "-",
          "endIntronOffset": 665,
          "referenceAllele": "C",
          "start": 3264,
          "startIntronDirection": "-",
          "startIntronOffset": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016168",
      "geneNCBI_id": 140876,
      "geneSymbol": "RIPOR3",
      "hgvs": [
        "XM_011528581.2:c.2650-666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526883.1:n.2650-666C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2411,
          "endIntronDirection": "-",
          "endIntronOffset": 665,
          "referenceAllele": "C",
          "start": 2411,
          "startIntronDirection": "-",
          "startIntronOffset": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016168",
      "geneNCBI_id": 140876,
      "geneSymbol": "RIPOR3",
      "hgvs": [
        "XM_011528585.2:c.1651-666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526887.1:n.1651-666C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549180"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2056,
          "endIntronDirection": "-",
          "endIntronOffset": 665,
          "referenceAllele": "C",
          "start": 2056,
          "startIntronDirection": "-",
          "startIntronOffset": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016168",
      "geneNCBI_id": 140876,
      "geneSymbol": "RIPOR3",
      "hgvs": [
        "XM_017027681.1:c.1972-666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883170.1:n.1972-666C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577585"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3512,
          "endIntronDirection": "-",
          "endIntronOffset": 665,
          "referenceAllele": "C",
          "start": 3512,
          "startIntronDirection": "-",
          "startIntronOffset": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016168",
      "geneNCBI_id": 140876,
      "geneSymbol": "RIPOR3",
      "hgvs": [
        "XR_001754183.1:n.3513-666C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3075,
          "endIntronDirection": "-",
          "endIntronOffset": 665,
          "referenceAllele": "C",
          "start": 3075,
          "startIntronDirection": "-",
          "startIntronOffset": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016168",
      "geneNCBI_id": 140876,
      "geneSymbol": "RIPOR3",
      "hgvs": [
        "NM_001290268.2:c.2662-666C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001277197.1:n.2662-666C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682746",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000327979.8:c.2662-666C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001290268.2:c.2662-666C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332663.3:n.2662-666C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001277197.1:n.2662-666C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3234,
          "endIntronDirection": "-",
          "endIntronOffset": 665,
          "referenceAllele": "C",
          "start": 3234,
          "startIntronDirection": "-",
          "startIntronOffset": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016168",
      "geneNCBI_id": 140876,
      "geneSymbol": "RIPOR3",
      "hgvs": [
        "NR_110890.2:n.3235-666C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2871,
          "endIntronDirection": "-",
          "endIntronOffset": 665,
          "referenceAllele": "C",
          "start": 2871,
          "startIntronDirection": "-",
          "startIntronOffset": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016168",
      "geneNCBI_id": 140876,
      "geneSymbol": "RIPOR3",
      "hgvs": [
        "NM_080829.4:c.2650-666C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_543019.2:n.2650-666C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729067"
    }
  ],
  "type": "nucleotide"
}