{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2347753005",
  "communityStandardTitle": [
    "NM_032485.6(MCM8):c.1954-1G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/138761187",
        "rs": 138761187
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 5985921,
          "referenceAllele": "G",
          "start": 5985920
        }
      ],
      "hgvs": [
        "NC_000020.11:g.5985921G=",
        "CM000682.2:g.5985921G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 5966567,
          "referenceAllele": "G",
          "start": 5966566
        }
      ],
      "hgvs": [
        "NC_000020.10:g.5966567G=",
        "CM000682.1:g.5966567G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 5914567,
          "referenceAllele": "G",
          "start": 5914566
        }
      ],
      "hgvs": [
        "NC_000020.9:g.5914567G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40270,
          "referenceAllele": "G",
          "start": 40269
        }
      ],
      "hgvs": [
        "NG_042869.1:g.40270G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS006054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2087,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2087,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "hgvs": [
        "ENST00000652720.1:c.1954-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498784.1:n.1954-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772369"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2057,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2057,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "ENST00000265187.4:c.1906-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265187.4:n.1906-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251692"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2189,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2189,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "ENST00000378883.5:c.1813-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368161.1:n.1813-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272239"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2450,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2450,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "ENST00000378886.6:c.2074-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368164.2:n.2074-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272240"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2384,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2384,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "ENST00000378896.7:c.1954-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368174.3:n.1954-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272246"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2330,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2330,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "ENST00000610722.4:c.1954-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478141.1:n.1954-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400542",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000610722.4:c.1954-1G="
          },
          "RefSeq": {
            "hgvs": "NM_032485.6:c.1954-1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478141.1:n.1954-1G="
          },
          "RefSeq": {
            "hgvs": "NP_115874.3:n.1954-1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2384,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2384,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "NM_001281520.1:c.1954-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001268449.1:n.1954-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021669"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2450,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2450,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "NM_001281521.1:c.2074-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001268450.1:n.2074-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021670"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2189,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2189,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "NM_001281522.1:c.1813-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001268451.1:n.1813-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2330,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2330,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "NM_032485.5:c.1954-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_115874.3:n.1954-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039120"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2336,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2336,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "NM_182802.2:c.1906-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_877954.1:n.1906-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044135"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2384,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2384,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "XR_937169.1:n.2385-1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132141"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2479,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2479,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "XM_017028105.1:c.2074-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016883594.1:n.2074-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577932"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2296,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2296,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "XM_017028106.1:c.1762-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016883595.1:n.1762-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577933"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2569,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2569,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "XM_017028107.1:c.1105-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016883596.1:n.1105-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577934"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2384,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2384,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "XR_001754422.1:n.2385-1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600569"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2121,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2121,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "XR_001754423.1:n.2122-1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600570"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2330,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2330,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "NM_032485.6:c.1954-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_115874.3:n.1954-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699118",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000610722.4:c.1954-1G="
          },
          "RefSeq": {
            "hgvs": "NM_032485.6:c.1954-1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478141.1:n.1954-1G="
          },
          "RefSeq": {
            "hgvs": "NP_115874.3:n.1954-1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2336,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2336,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "NM_182802.3:c.1906-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_877954.1:n.1906-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2384,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2384,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "NM_001281520.2:c.1954-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001268449.1:n.1954-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715710"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2450,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2450,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "NM_001281521.2:c.2074-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001268450.1:n.2074-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715711"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2189,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2189,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "NM_001281522.2:c.1813-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001268451.1:n.1813-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715712"
    }
  ],
  "type": "nucleotide"
}