{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1732605334",
  "communityStandardTitle": [
    "NM_006348.5(COG5):c.669+10197T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3757713",
        "rs": 3757713
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 107402305,
          "referenceAllele": "A",
          "start": 107402304
        }
      ],
      "hgvs": [
        "NC_000007.14:g.107402305A=",
        "CM000669.2:g.107402305A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 107042750,
          "referenceAllele": "A",
          "start": 107042749
        }
      ],
      "hgvs": [
        "NC_000007.13:g.107042750A=",
        "CM000669.1:g.107042750A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 106829986,
          "referenceAllele": "A",
          "start": 106829985
        }
      ],
      "hgvs": [
        "NC_000007.12:g.106829986A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 167210,
          "referenceAllele": "T",
          "start": 167209
        }
      ],
      "hgvs": [
        "NG_028095.1:g.167210T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 167210,
          "referenceAllele": "T",
          "start": 167209
        }
      ],
      "hgvs": [
        "NG_028095.2:g.167210T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673758"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 693,
          "endIntronDirection": "+",
          "endIntronOffset": 10197,
          "referenceAllele": "T",
          "start": 693,
          "startIntronDirection": "+",
          "startIntronOffset": 10196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "ENST00000297135.9:c.669+10197T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297135.4:n.669+10197T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744495",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297135.9:c.669+10197T="
          },
          "RefSeq": {
            "hgvs": "NM_006348.5:c.669+10197T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297135.4:n.669+10197T="
          },
          "RefSeq": {
            "hgvs": "NP_006339.4:n.669+10197T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 813,
          "endIntronDirection": "+",
          "endIntronOffset": 10197,
          "referenceAllele": "T",
          "start": 813,
          "startIntronDirection": "+",
          "startIntronOffset": 10196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "ENST00000347053.8:c.669+10197T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334703.3:n.669+10197T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1034,
          "endIntronDirection": "+",
          "endIntronOffset": 10197,
          "referenceAllele": "T",
          "start": 1034,
          "startIntronDirection": "+",
          "startIntronOffset": 10196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "ENST00000393603.7:c.669+10197T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377228.3:n.669+10197T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1287,
          "endIntronDirection": "+",
          "endIntronOffset": 10197,
          "referenceAllele": "T",
          "start": 1287,
          "startIntronDirection": "+",
          "startIntronOffset": 10196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "ENST00000297135.7:c.762+10197T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297135.3:n.762+10197T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 813,
          "endIntronDirection": "+",
          "endIntronOffset": 10197,
          "referenceAllele": "T",
          "start": 813,
          "startIntronDirection": "+",
          "startIntronOffset": 10196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "ENST00000347053.7:c.762+10197T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334703.2:n.762+10197T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262325"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1034,
          "endIntronDirection": "+",
          "endIntronOffset": 10197,
          "referenceAllele": "T",
          "start": 1034,
          "startIntronDirection": "+",
          "startIntronOffset": 10196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "ENST00000393603.6:c.762+10197T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377228.2:n.762+10197T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275718"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "endIntronDirection": "+",
          "endIntronOffset": 10197,
          "referenceAllele": "T",
          "start": 426,
          "startIntronDirection": "+",
          "startIntronOffset": 10196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "ENST00000475638.6:n.426+10197T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 252,
          "endIntronDirection": "+",
          "endIntronOffset": 10197,
          "referenceAllele": "T",
          "start": 252,
          "startIntronDirection": "+",
          "startIntronOffset": 10196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "ENST00000484237.5:n.252+10197T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1287,
          "endIntronDirection": "+",
          "endIntronOffset": 10197,
          "referenceAllele": "T",
          "start": 1287,
          "startIntronDirection": "+",
          "startIntronOffset": 10196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "NM_001161520.1:c.762+10197T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001154992.1:n.762+10197T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014248"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1287,
          "endIntronDirection": "+",
          "endIntronOffset": 10197,
          "referenceAllele": "T",
          "start": 1287,
          "startIntronDirection": "+",
          "startIntronOffset": 10196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "NM_006348.3:c.762+10197T="
      ],
      "proteinEffect": {
        "hgvs": "NP_006339.3:n.762+10197T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031366"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1287,
          "endIntronDirection": "+",
          "endIntronOffset": 10197,
          "referenceAllele": "T",
          "start": 1287,
          "startIntronDirection": "+",
          "startIntronOffset": 10196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "NM_181733.2:c.762+10197T="
      ],
      "proteinEffect": {
        "hgvs": "NP_859422.2:n.762+10197T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043850"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 982,
          "endIntronDirection": "+",
          "endIntronOffset": 10197,
          "referenceAllele": "T",
          "start": 982,
          "startIntronDirection": "+",
          "startIntronOffset": 10196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "XM_011515738.1:c.762+10197T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514040.1:n.762+10197T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082949"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1134,
          "endIntronDirection": "+",
          "endIntronOffset": 10197,
          "referenceAllele": "T",
          "start": 1134,
          "startIntronDirection": "+",
          "startIntronOffset": 10196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "XM_024446634.1:c.762+10197T="
      ],
      "proteinEffect": {
        "hgvs": "XP_024302402.1:n.762+10197T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 693,
          "endIntronDirection": "+",
          "endIntronOffset": 10197,
          "referenceAllele": "T",
          "start": 693,
          "startIntronDirection": "+",
          "startIntronOffset": 10196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "NM_001161520.2:c.669+10197T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001154992.2:n.669+10197T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 693,
          "endIntronDirection": "+",
          "endIntronOffset": 10197,
          "referenceAllele": "T",
          "start": 693,
          "startIntronDirection": "+",
          "startIntronOffset": 10196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "NM_006348.4:c.669+10197T="
      ],
      "proteinEffect": {
        "hgvs": "NP_006339.4:n.669+10197T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 693,
          "endIntronDirection": "+",
          "endIntronOffset": 10197,
          "referenceAllele": "T",
          "start": 693,
          "startIntronDirection": "+",
          "startIntronOffset": 10196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "NM_181733.3:c.669+10197T="
      ],
      "proteinEffect": {
        "hgvs": "NP_859422.3:n.669+10197T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 693,
          "endIntronDirection": "+",
          "endIntronOffset": 10197,
          "referenceAllele": "T",
          "start": 693,
          "startIntronDirection": "+",
          "startIntronOffset": 10196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "NM_001379511.1:c.669+10197T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366440.1:n.669+10197T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 693,
          "endIntronDirection": "+",
          "endIntronOffset": 10197,
          "referenceAllele": "T",
          "start": 693,
          "startIntronDirection": "+",
          "startIntronOffset": 10196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "NM_001379512.1:c.669+10197T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366441.1:n.669+10197T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 693,
          "endIntronDirection": "+",
          "endIntronOffset": 10197,
          "referenceAllele": "T",
          "start": 693,
          "startIntronDirection": "+",
          "startIntronOffset": 10196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "NM_001379513.1:c.669+10197T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366442.1:n.669+10197T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 693,
          "endIntronDirection": "+",
          "endIntronOffset": 10197,
          "referenceAllele": "T",
          "start": 693,
          "startIntronDirection": "+",
          "startIntronOffset": 10196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "NM_001379514.1:c.669+10197T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366443.1:n.669+10197T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 562,
          "endIntronDirection": "-",
          "endIntronOffset": 103958,
          "referenceAllele": "T",
          "start": 562,
          "startIntronDirection": "-",
          "startIntronOffset": 103959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "NM_001379515.1:c.539-103959T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366444.1:n.539-103959T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "endIntronDirection": "-",
          "endIntronOffset": 40194,
          "referenceAllele": "T",
          "start": 258,
          "startIntronDirection": "-",
          "startIntronOffset": 40195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "NM_001379516.1:c.235-40195T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001366445.1:n.235-40195T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 693,
          "endIntronDirection": "+",
          "endIntronOffset": 10197,
          "referenceAllele": "T",
          "start": 693,
          "startIntronDirection": "+",
          "startIntronOffset": 10196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "NM_006348.5:c.669+10197T="
      ],
      "proteinEffect": {
        "hgvs": "NP_006339.4:n.669+10197T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727721",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297135.9:c.669+10197T="
          },
          "RefSeq": {
            "hgvs": "NM_006348.5:c.669+10197T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297135.4:n.669+10197T="
          },
          "RefSeq": {
            "hgvs": "NP_006339.4:n.669+10197T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 693,
          "endIntronDirection": "+",
          "endIntronOffset": 10197,
          "referenceAllele": "T",
          "start": 693,
          "startIntronDirection": "+",
          "startIntronOffset": 10196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "NM_181733.4:c.669+10197T="
      ],
      "proteinEffect": {
        "hgvs": "NP_859422.3:n.669+10197T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729734"
    }
  ],
  "type": "nucleotide"
}