{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1746777466",
  "communityStandardTitle": [
    "NM_020632.3(ATP6V0A4):c.1691+1G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587776615",
        "rs": 587776615
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 138734135,
          "referenceAllele": "C",
          "start": 138734134
        }
      ],
      "hgvs": [
        "NC_000007.14:g.138734135C=",
        "CM000669.2:g.138734135C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 138418880,
          "referenceAllele": "C",
          "start": 138418879
        }
      ],
      "hgvs": [
        "NC_000007.13:g.138418880C=",
        "CM000669.1:g.138418880C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 138069420,
          "referenceAllele": "C",
          "start": 138069419
        }
      ],
      "hgvs": [
        "NC_000007.12:g.138069420C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 69062,
          "referenceAllele": "G",
          "start": 69061
        }
      ],
      "hgvs": [
        "NG_008145.1:g.69062G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000891"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1974,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1974,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000866",
      "geneNCBI_id": 50617,
      "geneSymbol": "ATP6V0A4",
      "hgvs": [
        "ENST00000310018.7:c.1691+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308122.2:n.1691+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745596",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310018.7:c.1691+1G="
          },
          "RefSeq": {
            "hgvs": "NM_020632.3:c.1691+1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308122.2:n.1691+1G="
          },
          "RefSeq": {
            "hgvs": "NP_065683.2:n.1691+1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1178,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1178,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000866",
      "geneNCBI_id": 50617,
      "geneSymbol": "ATP6V0A4",
      "hgvs": [
        "ENST00000478480.2:c.917+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495261.1:n.917+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757264"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1088,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1088,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000866",
      "geneNCBI_id": 50617,
      "geneSymbol": "ATP6V0A4",
      "hgvs": [
        "ENST00000644341.1:c.917+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495642.1:n.917+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767770"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1890,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1890,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000866",
      "geneNCBI_id": 50617,
      "geneSymbol": "ATP6V0A4",
      "hgvs": [
        "ENST00000645515.1:c.1691+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496421.1:n.1691+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 584,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 584,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000866",
      "geneNCBI_id": 50617,
      "geneSymbol": "ATP6V0A4",
      "hgvs": [
        "ENST00000647427.1:c.584+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496259.1:n.584+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769405"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1974,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1974,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000866",
      "geneNCBI_id": 50617,
      "geneSymbol": "ATP6V0A4",
      "hgvs": [
        "ENST00000310018.6:c.1691+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308122.2:n.1691+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256302"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1779,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1779,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000866",
      "geneNCBI_id": 50617,
      "geneSymbol": "ATP6V0A4",
      "hgvs": [
        "ENST00000353492.4:c.1691+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253856.6:n.1691+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262973"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1929,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1929,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000866",
      "geneNCBI_id": 50617,
      "geneSymbol": "ATP6V0A4",
      "hgvs": [
        "ENST00000393054.5:c.1691+1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376774.1:n.1691+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275426"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1974,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1974,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000866",
      "geneNCBI_id": 50617,
      "geneSymbol": "ATP6V0A4",
      "hgvs": [
        "NM_020632.2:c.1691+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_065683.2:n.1691+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036458"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1871,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1871,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000866",
      "geneNCBI_id": 50617,
      "geneSymbol": "ATP6V0A4",
      "hgvs": [
        "NM_130840.2:c.1691+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_570855.2:n.1691+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040434"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1929,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1929,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000866",
      "geneNCBI_id": 50617,
      "geneSymbol": "ATP6V0A4",
      "hgvs": [
        "NM_130841.2:c.1691+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_570856.2:n.1691+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2321,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2321,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000866",
      "geneNCBI_id": 50617,
      "geneSymbol": "ATP6V0A4",
      "hgvs": [
        "XM_005250393.1:c.1691+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250450.1:n.1691+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059159"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2026,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2026,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000866",
      "geneNCBI_id": 50617,
      "geneSymbol": "ATP6V0A4",
      "hgvs": [
        "XM_005250394.2:c.1691+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250451.1:n.1691+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059160"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2233,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2233,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000866",
      "geneNCBI_id": 50617,
      "geneSymbol": "ATP6V0A4",
      "hgvs": [
        "XM_005250394.3:c.1691+1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250451.1:n.1691+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533428"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1974,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1974,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000866",
      "geneNCBI_id": 50617,
      "geneSymbol": "ATP6V0A4",
      "hgvs": [
        "NM_020632.3:c.1691+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_065683.2:n.1691+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670033",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310018.7:c.1691+1G="
          },
          "RefSeq": {
            "hgvs": "NM_020632.3:c.1691+1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308122.2:n.1691+1G="
          },
          "RefSeq": {
            "hgvs": "NP_065683.2:n.1691+1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1871,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1871,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000866",
      "geneNCBI_id": 50617,
      "geneSymbol": "ATP6V0A4",
      "hgvs": [
        "NM_130840.3:c.1691+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_570855.2:n.1691+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1827,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1827,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000866",
      "geneNCBI_id": 50617,
      "geneSymbol": "ATP6V0A4",
      "hgvs": [
        "NM_130841.3:c.1691+1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_570856.2:n.1691+1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729089"
    }
  ],
  "type": "nucleotide"
}