{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1931472498",
  "communityStandardTitle": [
    "NM_078470.6(COX15):c.396-3C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200910834",
        "rs": 200910834
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 99727157,
          "referenceAllele": "G",
          "start": 99727156
        }
      ],
      "hgvs": [
        "NC_000010.11:g.99727157G=",
        "CM000672.2:g.99727157G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 101486914,
          "referenceAllele": "G",
          "start": 101486913
        }
      ],
      "hgvs": [
        "NC_000010.10:g.101486914G=",
        "CM000672.1:g.101486914G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 101476904,
          "referenceAllele": "G",
          "start": 101476903
        }
      ],
      "hgvs": [
        "NC_000010.9:g.101476904G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10510,
          "referenceAllele": "C",
          "start": 10509
        }
      ],
      "hgvs": [
        "NG_008986.1:g.10510C=",
        "LRG_406:g.10510C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001357"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 473,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 473,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "ENST00000016171.6:c.396-3C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000016171.6:n.396-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739966",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000016171.6:c.396-3C="
          },
          "RefSeq": {
            "hgvs": "NM_078470.6:c.396-3C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000016171.6:n.396-3C="
          },
          "RefSeq": {
            "hgvs": "NP_510870.1:n.396-3C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 458,
          "endIntronDirection": "-",
          "endIntronOffset": 85,
          "referenceAllele": "C",
          "start": 458,
          "startIntronDirection": "-",
          "startIntronOffset": 86
        }
      ],
      "hgvs": [
        "ENST00000649102.1:c.396-86C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497114.1:n.396-86C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 446,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 446,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "ENST00000016171.5:c.396-3C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000016171.5:n.396-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247509"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 446,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 446,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "ENST00000370483.9:c.396-3C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359514.5:n.396-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268084"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 309,
          "endIntronDirection": "+",
          "endIntronOffset": 4047,
          "referenceAllele": "G",
          "start": 309,
          "startIntronDirection": "+",
          "startIntronOffset": 4046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024271",
      "geneNCBI_id": 51076,
      "geneSymbol": "CUTC",
      "hgvs": [
        "ENST00000493385.5:n.309+4047G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330546"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1012,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1012,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_004376.5:c.396-3C=",
        "LRG_406t2:c.396-3C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004367.2:n.396-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029539"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1012,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1012,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_078470.4:c.396-3C=",
        "LRG_406t1:c.396-3C="
      ],
      "proteinEffect": {
        "hgvs": "NP_510870.1:n.396-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 477,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 477,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "XM_005269539.3:c.396-3C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005269596.1:n.396-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 477,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 477,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "XM_006717633.2:c.396-3C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006717696.1:n.396-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072255"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 477,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 477,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "XM_006717634.2:c.396-3C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006717697.1:n.396-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072256"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 477,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 477,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "XM_011539298.1:c.396-3C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011537600.1:n.396-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106248"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1012,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1012,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_001320974.1:c.396-3C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001307903.1:n.396-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513939"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1012,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1012,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_001320975.1:c.396-3C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001307904.1:n.396-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513940"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1012,
          "endIntronDirection": "-",
          "endIntronOffset": 85,
          "referenceAllele": "C",
          "start": 1012,
          "startIntronDirection": "-",
          "startIntronOffset": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_001320976.1:c.-59-86C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001307905.1:n.-59-86C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513941"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1012,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1012,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_004376.6:c.396-3C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004367.2:n.396-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1012,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 1012,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_078470.5:c.396-3C="
      ],
      "proteinEffect": {
        "hgvs": "NP_510870.1:n.396-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526439"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 477,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 477,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "XM_006717634.3:c.396-3C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006717697.1:n.396-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539449"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 477,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 477,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "XM_011539298.2:c.396-3C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011537600.1:n.396-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553596"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 473,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 473,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_001320974.2:c.396-3C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001307903.1:n.396-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 473,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 473,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_001320975.2:c.396-3C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001307904.1:n.396-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685129"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 473,
          "endIntronDirection": "-",
          "endIntronOffset": 85,
          "referenceAllele": "C",
          "start": 473,
          "startIntronDirection": "-",
          "startIntronOffset": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_001320976.2:c.-59-86C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001307905.1:n.-59-86C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 473,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 473,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_001372024.1:c.396-3C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001358953.1:n.396-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693089"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 473,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 473,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_001372025.1:c.396-3C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001358954.1:n.396-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693090"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 473,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 473,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_001372026.1:c.396-3C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001358955.1:n.396-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693091"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 473,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 473,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_001372027.1:c.396-3C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001358956.1:n.396-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693092"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 473,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 473,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_001372028.1:c.396-3C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001358957.1:n.396-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693093"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 473,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 473,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_004376.7:c.396-3C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004367.2:n.396-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696121"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 473,
          "endIntronDirection": "-",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 473,
          "startIntronDirection": "-",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_078470.6:c.396-3C="
      ],
      "proteinEffect": {
        "hgvs": "NP_510870.1:n.396-3C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699495",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000016171.6:c.396-3C="
          },
          "RefSeq": {
            "hgvs": "NM_078470.6:c.396-3C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000016171.6:n.396-3C="
          },
          "RefSeq": {
            "hgvs": "NP_510870.1:n.396-3C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 473,
          "endIntronDirection": "-",
          "endIntronOffset": 85,
          "referenceAllele": "C",
          "start": 473,
          "startIntronDirection": "-",
          "startIntronOffset": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NR_164009.1:n.474-86C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705670"
    }
  ],
  "type": "nucleotide"
}