{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2230390994",
  "communityStandardTitle": [
    "NM_000903.3(NQO1):c.7+2508T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1437135",
        "rs": 1437135
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 69723925,
          "referenceAllele": "A",
          "start": 69723924
        }
      ],
      "hgvs": [
        "NC_000016.10:g.69723925A=",
        "CM000678.2:g.69723925A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 69757828,
          "referenceAllele": "A",
          "start": 69757827
        }
      ],
      "hgvs": [
        "NC_000016.9:g.69757828A=",
        "CM000678.1:g.69757828A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 68315329,
          "referenceAllele": "A",
          "start": 68315328
        }
      ],
      "hgvs": [
        "NC_000016.8:g.68315329A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7706,
          "referenceAllele": "T",
          "start": 7705
        }
      ],
      "hgvs": [
        "NG_011504.1:g.7706T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7706,
          "referenceAllele": "T",
          "start": 7705
        }
      ],
      "hgvs": [
        "NG_011504.2:g.7706T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673543"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 128,
          "endIntronDirection": "+",
          "endIntronOffset": 2508,
          "referenceAllele": "T",
          "start": 128,
          "startIntronDirection": "+",
          "startIntronOffset": 2507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002874",
      "geneNCBI_id": 1728,
      "geneSymbol": "NQO1",
      "hgvs": [
        "ENST00000320623.10:c.7+2508T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000319788.5:n.7+2508T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746365",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320623.10:c.7+2508T="
          },
          "RefSeq": {
            "hgvs": "NM_000903.3:c.7+2508T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000319788.5:n.7+2508T="
          },
          "RefSeq": {
            "hgvs": "NP_000894.1:n.7+2508T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 519,
          "endIntronDirection": "+",
          "endIntronOffset": 2508,
          "referenceAllele": "T",
          "start": 519,
          "startIntronDirection": "+",
          "startIntronOffset": 2507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002874",
      "geneNCBI_id": 1728,
      "geneSymbol": "NQO1",
      "hgvs": [
        "ENST00000320623.9:c.7+2508T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000319788.5:n.7+2508T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257835"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 152,
          "endIntronDirection": "+",
          "endIntronOffset": 2508,
          "referenceAllele": "T",
          "start": 152,
          "startIntronDirection": "+",
          "startIntronOffset": 2507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002874",
      "geneNCBI_id": 1728,
      "geneSymbol": "NQO1",
      "hgvs": [
        "ENST00000379046.6:c.7+2508T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368334.2:n.7+2508T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 236,
          "endIntronDirection": "+",
          "endIntronOffset": 2508,
          "referenceAllele": "T",
          "start": 236,
          "startIntronDirection": "+",
          "startIntronOffset": 2507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002874",
      "geneNCBI_id": 1728,
      "geneSymbol": "NQO1",
      "hgvs": [
        "ENST00000379047.7:c.7+2508T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368335.3:n.7+2508T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 128,
          "endIntronDirection": "+",
          "endIntronOffset": 2508,
          "referenceAllele": "T",
          "start": 128,
          "startIntronDirection": "+",
          "startIntronOffset": 2507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002874",
      "geneNCBI_id": 1728,
      "geneSymbol": "NQO1",
      "hgvs": [
        "ENST00000439109.6:c.7+2508T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398330.2:n.7+2508T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295262"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 74,
          "endIntronDirection": "+",
          "endIntronOffset": 2508,
          "referenceAllele": "T",
          "start": 74,
          "startIntronDirection": "+",
          "startIntronOffset": 2507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002874",
      "geneNCBI_id": 1728,
      "geneSymbol": "NQO1",
      "hgvs": [
        "ENST00000561500.5:c.7+2508T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456282.1:n.7+2508T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 60,
          "endIntronDirection": "+",
          "endIntronOffset": 2576,
          "referenceAllele": "T",
          "start": 60,
          "startIntronDirection": "+",
          "startIntronOffset": 2575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002874",
      "geneNCBI_id": 1728,
      "geneSymbol": "NQO1",
      "hgvs": [
        "ENST00000564043.1:c.-57+2576T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455020.1:n.-57+2576T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "endIntronDirection": "+",
          "endIntronOffset": 2508,
          "referenceAllele": "T",
          "start": 93,
          "startIntronDirection": "+",
          "startIntronOffset": 2507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002874",
      "geneNCBI_id": 1728,
      "geneSymbol": "NQO1",
      "hgvs": [
        "ENST00000569118.1:n.93+2508T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 198,
          "endIntronDirection": "+",
          "endIntronOffset": 2508,
          "referenceAllele": "T",
          "start": 198,
          "startIntronDirection": "+",
          "startIntronOffset": 2507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002874",
      "geneNCBI_id": 1728,
      "geneSymbol": "NQO1",
      "hgvs": [
        "NM_000903.2:c.7+2508T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000894.1:n.7+2508T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006929"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 198,
          "endIntronDirection": "+",
          "endIntronOffset": 2508,
          "referenceAllele": "T",
          "start": 198,
          "startIntronDirection": "+",
          "startIntronOffset": 2507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002874",
      "geneNCBI_id": 1728,
      "geneSymbol": "NQO1",
      "hgvs": [
        "NM_001025433.1:c.7+2508T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001020604.1:n.7+2508T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008888"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 198,
          "endIntronDirection": "+",
          "endIntronOffset": 2508,
          "referenceAllele": "T",
          "start": 198,
          "startIntronDirection": "+",
          "startIntronOffset": 2507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002874",
      "geneNCBI_id": 1728,
      "geneSymbol": "NQO1",
      "hgvs": [
        "NM_001025434.1:c.7+2508T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001020605.1:n.7+2508T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008889"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 236,
          "endIntronDirection": "+",
          "endIntronOffset": 2508,
          "referenceAllele": "T",
          "start": 236,
          "startIntronDirection": "+",
          "startIntronOffset": 2507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002874",
      "geneNCBI_id": 1728,
      "geneSymbol": "NQO1",
      "hgvs": [
        "NM_001286137.1:c.7+2508T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001273066.1:n.7+2508T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 128,
          "endIntronDirection": "+",
          "endIntronOffset": 2508,
          "referenceAllele": "T",
          "start": 128,
          "startIntronDirection": "+",
          "startIntronOffset": 2507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002874",
      "geneNCBI_id": 1728,
      "geneSymbol": "NQO1",
      "hgvs": [
        "NM_000903.3:c.7+2508T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000894.1:n.7+2508T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662638",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000320623.10:c.7+2508T="
          },
          "RefSeq": {
            "hgvs": "NM_000903.3:c.7+2508T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000319788.5:n.7+2508T="
          },
          "RefSeq": {
            "hgvs": "NP_000894.1:n.7+2508T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 128,
          "endIntronDirection": "+",
          "endIntronOffset": 2508,
          "referenceAllele": "T",
          "start": 128,
          "startIntronDirection": "+",
          "startIntronOffset": 2507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002874",
      "geneNCBI_id": 1728,
      "geneSymbol": "NQO1",
      "hgvs": [
        "NM_001025433.2:c.7+2508T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001020604.1:n.7+2508T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 128,
          "endIntronDirection": "+",
          "endIntronOffset": 2508,
          "referenceAllele": "T",
          "start": 128,
          "startIntronDirection": "+",
          "startIntronOffset": 2507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002874",
      "geneNCBI_id": 1728,
      "geneSymbol": "NQO1",
      "hgvs": [
        "NM_001025434.2:c.7+2508T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001020605.1:n.7+2508T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 128,
          "endIntronDirection": "+",
          "endIntronOffset": 2508,
          "referenceAllele": "T",
          "start": 128,
          "startIntronDirection": "+",
          "startIntronOffset": 2507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002874",
      "geneNCBI_id": 1728,
      "geneSymbol": "NQO1",
      "hgvs": [
        "NM_001286137.2:c.7+2508T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001273066.1:n.7+2508T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682151"
    }
  ],
  "type": "nucleotide"
}