{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1139990323",
  "communityStandardTitle": [
    "NM_001286.5(CLCN6):c.87+45G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3737965",
        "rs": 3737965
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 11806394,
          "referenceAllele": "G",
          "start": 11806393
        }
      ],
      "hgvs": [
        "NC_000001.11:g.11806394G=",
        "CM000663.2:g.11806394G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 11866451,
          "referenceAllele": "G",
          "start": 11866450
        }
      ],
      "hgvs": [
        "NC_000001.10:g.11866451G=",
        "CM000663.1:g.11866451G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 11789038,
          "referenceAllele": "G",
          "start": 11789037
        }
      ],
      "hgvs": [
        "NC_000001.9:g.11789038G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5245,
          "referenceAllele": "G",
          "start": 5244
        }
      ],
      "hgvs": [
        "NG_008766.1:g.5245G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001205"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4710,
          "referenceAllele": "C",
          "start": 4709
        }
      ],
      "hgvs": [
        "NG_013351.1:g.4710C=",
        "LRG_726:g.4710C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002803"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 159,
          "endIntronDirection": "+",
          "endIntronOffset": 45,
          "referenceAllele": "G",
          "start": 159,
          "startIntronDirection": "+",
          "startIntronOffset": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002024",
      "geneNCBI_id": 1185,
      "geneSymbol": "CLCN6",
      "hgvs": [
        "ENST00000346436.11:c.87+45G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234488.9:n.87+45G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748318",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346436.11:c.87+45G="
          },
          "RefSeq": {
            "hgvs": "NM_001286.5:c.87+45G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234488.9:n.87+45G="
          },
          "RefSeq": {
            "hgvs": "NP_001277.2:n.87+45G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 119,
          "endIntronDirection": "+",
          "endIntronOffset": 45,
          "referenceAllele": "G",
          "start": 119,
          "startIntronDirection": "+",
          "startIntronOffset": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002024",
      "geneNCBI_id": 1185,
      "geneSymbol": "CLCN6",
      "hgvs": [
        "ENST00000400892.3:c.87+45G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496938.1:n.87+45G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753945"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 62,
          "referenceAllele": "C",
          "start": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000641747.1:c.-520C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493116.1:n.-520C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766307"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 254,
          "endIntronDirection": "+",
          "endIntronOffset": 45,
          "referenceAllele": "G",
          "start": 254,
          "startIntronDirection": "+",
          "startIntronOffset": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002024",
      "geneNCBI_id": 1185,
      "geneSymbol": "CLCN6",
      "hgvs": [
        "ENST00000312413.10:c.87+45G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308367.7:n.87+45G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 139,
          "endIntronDirection": "+",
          "endIntronOffset": 45,
          "referenceAllele": "G",
          "start": 139,
          "startIntronDirection": "+",
          "startIntronOffset": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002024",
      "geneNCBI_id": 1185,
      "geneSymbol": "CLCN6",
      "hgvs": [
        "ENST00000346436.10:c.87+45G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234488.9:n.87+45G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262265"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 527,
          "referenceAllele": "C",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007436",
      "geneNCBI_id": 4524,
      "geneSymbol": "MTHFR",
      "hgvs": [
        "ENST00000376486.2:c.-520C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365669.2:n.-520C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271180"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 87,
          "endIntronDirection": "+",
          "endIntronOffset": 45,
          "referenceAllele": "G",
          "start": 87,
          "startIntronDirection": "+",
          "startIntronOffset": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002024",
      "geneNCBI_id": 1185,
      "geneSymbol": "CLCN6",
      "hgvs": [
        "ENST00000376490.7:n.87+45G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS271183"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 87,
          "endIntronDirection": "+",
          "endIntronOffset": 45,
          "referenceAllele": "G",
          "start": 87,
          "startIntronDirection": "+",
          "startIntronOffset": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002024",
      "geneNCBI_id": 1185,
      "geneSymbol": "CLCN6",
      "hgvs": [
        "ENST00000376491.7:n.87+45G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS271184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 87,
          "endIntronDirection": "+",
          "endIntronOffset": 45,
          "referenceAllele": "G",
          "start": 87,
          "startIntronDirection": "+",
          "startIntronOffset": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002024",
      "geneNCBI_id": 1185,
      "geneSymbol": "CLCN6",
      "hgvs": [
        "ENST00000376492.3:n.87+45G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS271185"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 90,
          "endIntronDirection": "+",
          "endIntronOffset": 45,
          "referenceAllele": "G",
          "start": 90,
          "startIntronDirection": "+",
          "startIntronOffset": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002024",
      "geneNCBI_id": 1185,
      "geneSymbol": "CLCN6",
      "hgvs": [
        "ENST00000376496.4:c.87+45G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365679.3:n.87+45G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271188"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 137,
          "endIntronDirection": "+",
          "endIntronOffset": 45,
          "referenceAllele": "G",
          "start": 137,
          "startIntronDirection": "+",
          "startIntronOffset": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002024",
      "geneNCBI_id": 1185,
      "geneSymbol": "CLCN6",
      "hgvs": [
        "ENST00000376497.7:c.87+45G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365680.3:n.87+45G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271189"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 254,
          "endIntronDirection": "+",
          "endIntronOffset": 45,
          "referenceAllele": "G",
          "start": 254,
          "startIntronDirection": "+",
          "startIntronOffset": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002024",
      "geneNCBI_id": 1185,
      "geneSymbol": "CLCN6",
      "hgvs": [
        "NM_001256959.1:c.87+45G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243888.1:n.87+45G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019524"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 254,
          "endIntronDirection": "+",
          "endIntronOffset": 45,
          "referenceAllele": "G",
          "start": 254,
          "startIntronDirection": "+",
          "startIntronOffset": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002024",
      "geneNCBI_id": 1185,
      "geneSymbol": "CLCN6",
      "hgvs": [
        "NM_001286.3:c.87+45G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001277.1:n.87+45G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022699"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 254,
          "endIntronDirection": "+",
          "endIntronOffset": 45,
          "referenceAllele": "G",
          "start": 254,
          "startIntronDirection": "+",
          "startIntronOffset": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002024",
      "geneNCBI_id": 1185,
      "geneSymbol": "CLCN6",
      "hgvs": [
        "NR_046428.1:n.254+45G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 159,
          "endIntronDirection": "+",
          "endIntronOffset": 45,
          "referenceAllele": "G",
          "start": 159,
          "startIntronDirection": "+",
          "startIntronOffset": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002024",
      "geneNCBI_id": 1185,
      "geneSymbol": "CLCN6",
      "hgvs": [
        "NM_001286.4:c.87+45G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001277.1:n.87+45G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664219"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 159,
          "endIntronDirection": "+",
          "endIntronOffset": 45,
          "referenceAllele": "G",
          "start": 159,
          "startIntronDirection": "+",
          "startIntronOffset": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002024",
      "geneNCBI_id": 1185,
      "geneSymbol": "CLCN6",
      "hgvs": [
        "NM_001256959.2:c.87+45G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243888.2:n.87+45G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714861"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 159,
          "endIntronDirection": "+",
          "endIntronOffset": 45,
          "referenceAllele": "G",
          "start": 159,
          "startIntronDirection": "+",
          "startIntronOffset": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002024",
      "geneNCBI_id": 1185,
      "geneSymbol": "CLCN6",
      "hgvs": [
        "NM_001286.5:c.87+45G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001277.2:n.87+45G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716102",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000346436.11:c.87+45G="
          },
          "RefSeq": {
            "hgvs": "NM_001286.5:c.87+45G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234488.9:n.87+45G="
          },
          "RefSeq": {
            "hgvs": "NP_001277.2:n.87+45G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 159,
          "endIntronDirection": "+",
          "endIntronOffset": 45,
          "referenceAllele": "G",
          "start": 159,
          "startIntronDirection": "+",
          "startIntronOffset": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002024",
      "geneNCBI_id": 1185,
      "geneSymbol": "CLCN6",
      "hgvs": [
        "NR_046428.2:n.159+45G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730435"
    }
  ],
  "type": "nucleotide"
}