{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2580590442",
  "communityStandardTitle": [
    "NM_001134848.2(CCDC152):c.*925C>A",
    "NM_005410.4(SELENOP):c.*14G>T"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7579",
        "rs": 7579
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 42800706,
          "referenceAllele": "C",
          "start": 42800705
        }
      ],
      "hgvs": [
        "NC_000005.10:g.42800706C>A",
        "CM000667.2:g.42800706C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 42800808,
          "referenceAllele": "C",
          "start": 42800807
        }
      ],
      "hgvs": [
        "NC_000005.9:g.42800808C>A",
        "CM000667.1:g.42800808C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 42836565,
          "referenceAllele": "C",
          "start": 42836564
        }
      ],
      "hgvs": [
        "NC_000005.8:g.42836565C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1760,
          "referenceAllele": "C",
          "start": 1759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN034438",
      "geneNCBI_id": 100129792,
      "geneSymbol": "CCDC152",
      "hgvs": [
        "ENST00000361970.10:c.*925C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354888.5:n.*925C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749571",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361970.10:c.*925C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001134848.2:c.*925C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354888.5:n.*925C>A"
          },
          "RefSeq": {
            "hgvs": "NP_001128320.1:n.*925C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1230,
          "referenceAllele": "G",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010751",
      "geneNCBI_id": 6414,
      "geneSymbol": "SELENOP",
      "hgvs": [
        "ENST00000514985.6:c.*14G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420939.1:n.*14G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758372",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000514985.6:c.*14G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005410.4:c.*14G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000420939.1:n.*14G>T"
          },
          "RefSeq": {
            "hgvs": "NP_005401.3:n.*14G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1777,
          "referenceAllele": "C",
          "start": 1776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN034438",
      "geneNCBI_id": 100129792,
      "geneSymbol": "CCDC152",
      "hgvs": [
        "ENST00000361970.9:c.*925C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354888.5:n.*925C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1629,
          "referenceAllele": "G",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010751",
      "geneNCBI_id": 6414,
      "geneSymbol": "SELENOP",
      "hgvs": [
        "ENST00000506577.5:c.*14G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425915.1:n.*14G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1259,
          "referenceAllele": "G",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010751",
      "geneNCBI_id": 6414,
      "geneSymbol": "SELENOP",
      "hgvs": [
        "ENST00000511224.5:c.*14G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427671.1:n.*14G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3352,
          "referenceAllele": "G",
          "start": 3351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010751",
      "geneNCBI_id": 6414,
      "geneSymbol": "SELENOP",
      "hgvs": [
        "ENST00000512980.5:n.3352G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS342833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1417,
          "referenceAllele": "G",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010751",
      "geneNCBI_id": 6414,
      "geneSymbol": "SELENOP",
      "hgvs": [
        "ENST00000514985.5:c.*14G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420939.1:n.*14G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1289,
          "referenceAllele": "G",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010751",
      "geneNCBI_id": 6414,
      "geneSymbol": "SELENOP",
      "hgvs": [
        "NM_001085486.1:c.*14G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078955.1:n.*14G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010490"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1348,
          "referenceAllele": "G",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010751",
      "geneNCBI_id": 6414,
      "geneSymbol": "SELENOP",
      "hgvs": [
        "NM_001093726.1:c.*14G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001087195.1:n.*14G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010505"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1760,
          "referenceAllele": "C",
          "start": 1759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN034438",
      "geneNCBI_id": 100129792,
      "geneSymbol": "CCDC152",
      "hgvs": [
        "NM_001134848.1:c.*925C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128320.1:n.*925C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012306"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1260,
          "referenceAllele": "G",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010751",
      "geneNCBI_id": 6414,
      "geneSymbol": "SELENOP",
      "hgvs": [
        "NM_005410.2:c.*14G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005401.3:n.*14G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030506"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1443,
          "referenceAllele": "G",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010751",
      "geneNCBI_id": 6414,
      "geneSymbol": "SELENOP",
      "hgvs": [
        "NM_001085486.2:c.*14G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078955.1:n.*14G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511282"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1502,
          "referenceAllele": "G",
          "start": 1501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010751",
      "geneNCBI_id": 6414,
      "geneSymbol": "SELENOP",
      "hgvs": [
        "NM_001093726.2:c.*14G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001087195.1:n.*14G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1414,
          "referenceAllele": "G",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010751",
      "geneNCBI_id": 6414,
      "geneSymbol": "SELENOP",
      "hgvs": [
        "NM_005410.3:c.*14G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005401.3:n.*14G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525315"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1760,
          "referenceAllele": "C",
          "start": 1759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN034438",
      "geneNCBI_id": 100129792,
      "geneSymbol": "CCDC152",
      "hgvs": [
        "NM_001134848.2:c.*925C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128320.1:n.*925C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663635",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361970.10:c.*925C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001134848.2:c.*925C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354888.5:n.*925C>A"
          },
          "RefSeq": {
            "hgvs": "NP_001128320.1:n.*925C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1230,
          "referenceAllele": "G",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010751",
      "geneNCBI_id": 6414,
      "geneSymbol": "SELENOP",
      "hgvs": [
        "NM_005410.4:c.*14G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005401.3:n.*14G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666950",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000514985.6:c.*14G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005410.4:c.*14G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000420939.1:n.*14G>T"
          },
          "RefSeq": {
            "hgvs": "NP_005401.3:n.*14G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1259,
          "referenceAllele": "G",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010751",
      "geneNCBI_id": 6414,
      "geneSymbol": "SELENOP",
      "hgvs": [
        "NM_001085486.3:c.*14G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001078955.1:n.*14G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711884"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1318,
          "referenceAllele": "G",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010751",
      "geneNCBI_id": 6414,
      "geneSymbol": "SELENOP",
      "hgvs": [
        "NM_001093726.3:c.*14G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001087195.1:n.*14G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711885"
    }
  ],
  "type": "nucleotide"
}