{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1580817718",
  "communityStandardTitle": [
    "NM_001256545.2(MEGF10):c.319+7487G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/27388",
        "rs": 27388
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 127348117,
          "referenceAllele": "G",
          "start": 127348116
        }
      ],
      "hgvs": [
        "NC_000005.10:g.127348117G=",
        "CM000667.2:g.127348117G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 126683809,
          "referenceAllele": "G",
          "start": 126683808
        }
      ],
      "hgvs": [
        "NC_000005.9:g.126683809G=",
        "CM000667.1:g.126683809G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 126711708,
          "referenceAllele": "G",
          "start": 126711707
        }
      ],
      "hgvs": [
        "NC_000005.8:g.126711708G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 62354,
          "referenceAllele": "G",
          "start": 62353
        }
      ],
      "hgvs": [
        "NG_032072.1:g.62354G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005117"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 62354,
          "referenceAllele": "G",
          "start": 62353
        }
      ],
      "hgvs": [
        "NG_032072.2:g.62354G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673860"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 598,
          "endIntronDirection": "+",
          "endIntronOffset": 7487,
          "referenceAllele": "G",
          "start": 598,
          "startIntronDirection": "+",
          "startIntronOffset": 7486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "ENST00000503335.7:c.319+7487G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423354.2:n.319+7487G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757972",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000503335.7:c.319+7487G="
          },
          "RefSeq": {
            "hgvs": "NM_001256545.2:c.319+7487G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000423354.2:n.319+7487G="
          },
          "RefSeq": {
            "hgvs": "NP_001243474.1:n.319+7487G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 586,
          "endIntronDirection": "+",
          "endIntronOffset": 7487,
          "referenceAllele": "G",
          "start": 586,
          "startIntronDirection": "+",
          "startIntronOffset": 7486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "ENST00000274473.6:c.319+7487G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000274473.6:n.319+7487G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252543"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 598,
          "endIntronDirection": "+",
          "endIntronOffset": 7487,
          "referenceAllele": "G",
          "start": 598,
          "startIntronDirection": "+",
          "startIntronOffset": 7486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "ENST00000418761.6:c.319+7487G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416284.2:n.319+7487G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285557"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 563,
          "endIntronDirection": "+",
          "endIntronOffset": 7487,
          "referenceAllele": "G",
          "start": 563,
          "startIntronDirection": "+",
          "startIntronOffset": 7486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "ENST00000503335.6:c.319+7487G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423354.2:n.319+7487G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 548,
          "endIntronDirection": "+",
          "endIntronOffset": 7487,
          "referenceAllele": "G",
          "start": 548,
          "startIntronDirection": "+",
          "startIntronOffset": 7486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "ENST00000508365.5:c.319+7487G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423195.1:n.319+7487G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339403"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 630,
          "endIntronDirection": "+",
          "endIntronOffset": 7487,
          "referenceAllele": "G",
          "start": 630,
          "startIntronDirection": "+",
          "startIntronOffset": 7486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "NM_001256545.1:c.319+7487G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243474.1:n.319+7487G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019309"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "+",
          "endIntronOffset": 7487,
          "referenceAllele": "G",
          "start": 681,
          "startIntronDirection": "+",
          "startIntronOffset": 7486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "NM_001308119.1:c.319+7487G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001295048.1:n.319+7487G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026151"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 630,
          "endIntronDirection": "+",
          "endIntronOffset": 7487,
          "referenceAllele": "G",
          "start": 630,
          "startIntronDirection": "+",
          "startIntronOffset": 7486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "NM_001308121.1:c.319+7487G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001295050.1:n.319+7487G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026153"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "endIntronDirection": "+",
          "endIntronOffset": 7487,
          "referenceAllele": "G",
          "start": 681,
          "startIntronDirection": "+",
          "startIntronOffset": 7486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "NM_032446.2:c.319+7487G="
      ],
      "proteinEffect": {
        "hgvs": "NP_115822.1:n.319+7487G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039091"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 614,
          "endIntronDirection": "+",
          "endIntronOffset": 7487,
          "referenceAllele": "G",
          "start": 614,
          "startIntronDirection": "+",
          "startIntronOffset": 7486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "XM_011543692.1:c.319+7487G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541994.1:n.319+7487G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110609"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 406,
          "endIntronDirection": "+",
          "endIntronOffset": 7487,
          "referenceAllele": "G",
          "start": 406,
          "startIntronDirection": "+",
          "startIntronOffset": 7486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "XM_011543693.1:c.319+7487G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541995.1:n.319+7487G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 393,
          "endIntronDirection": "+",
          "endIntronOffset": 7487,
          "referenceAllele": "G",
          "start": 393,
          "startIntronDirection": "+",
          "startIntronOffset": 7486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "XM_011543694.1:c.319+7487G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011541996.1:n.319+7487G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 926,
          "endIntronDirection": "+",
          "endIntronOffset": 7487,
          "referenceAllele": "G",
          "start": 926,
          "startIntronDirection": "+",
          "startIntronOffset": 7486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "XM_017009987.1:c.484+7487G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016865476.1:n.484+7487G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564156"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 598,
          "endIntronDirection": "+",
          "endIntronOffset": 7487,
          "referenceAllele": "G",
          "start": 598,
          "startIntronDirection": "+",
          "startIntronOffset": 7486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "NM_001256545.2:c.319+7487G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001243474.1:n.319+7487G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664087",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000503335.7:c.319+7487G="
          },
          "RefSeq": {
            "hgvs": "NM_001256545.2:c.319+7487G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000423354.2:n.319+7487G="
          },
          "RefSeq": {
            "hgvs": "NP_001243474.1:n.319+7487G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 649,
          "endIntronDirection": "+",
          "endIntronOffset": 7487,
          "referenceAllele": "G",
          "start": 649,
          "startIntronDirection": "+",
          "startIntronOffset": 7486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "NM_032446.3:c.319+7487G="
      ],
      "proteinEffect": {
        "hgvs": "NP_115822.1:n.319+7487G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 649,
          "endIntronDirection": "+",
          "endIntronOffset": 7487,
          "referenceAllele": "G",
          "start": 649,
          "startIntronDirection": "+",
          "startIntronOffset": 7486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "NM_001308119.2:c.319+7487G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001295048.1:n.319+7487G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717228"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 598,
          "endIntronDirection": "+",
          "endIntronOffset": 7487,
          "referenceAllele": "G",
          "start": 598,
          "startIntronDirection": "+",
          "startIntronOffset": 7486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029634",
      "geneNCBI_id": 84466,
      "geneSymbol": "MEGF10",
      "hgvs": [
        "NM_001308121.2:c.319+7487G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001295050.1:n.319+7487G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717229"
    }
  ],
  "type": "nucleotide"
}