{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1139793745",
  "communityStandardTitle": [
    "NM_014697.3(NOS1AP):c.762+680C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/386231",
        "rs": 386231
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 162356033,
          "referenceAllele": "C",
          "start": 162356032
        }
      ],
      "hgvs": [
        "NC_000001.11:g.162356033C=",
        "CM000663.2:g.162356033C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 162325823,
          "referenceAllele": "C",
          "start": 162325822
        }
      ],
      "hgvs": [
        "NC_000001.10:g.162325823C=",
        "CM000663.1:g.162325823C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 160592447,
          "referenceAllele": "C",
          "start": 160592446
        }
      ],
      "hgvs": [
        "NC_000001.9:g.160592447C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 291243,
          "referenceAllele": "C",
          "start": 291242
        }
      ],
      "hgvs": [
        "NG_015979.1:g.291243C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002933"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 291243,
          "referenceAllele": "C",
          "start": 291242
        }
      ],
      "hgvs": [
        "NG_015979.2:g.291243C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673651"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1249,
          "endIntronDirection": "+",
          "endIntronOffset": 680,
          "referenceAllele": "C",
          "start": 1249,
          "startIntronDirection": "+",
          "startIntronOffset": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016859",
      "geneNCBI_id": 9722,
      "geneSymbol": "NOS1AP",
      "hgvs": [
        "ENST00000361897.10:c.762+680C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355133.5:n.762+680C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749559",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361897.10:c.762+680C="
          },
          "RefSeq": {
            "hgvs": "NM_014697.3:c.762+680C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355133.5:n.762+680C="
          },
          "RefSeq": {
            "hgvs": "NP_055512.1:n.762+680C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1164,
          "endIntronDirection": "+",
          "endIntronOffset": 680,
          "referenceAllele": "C",
          "start": 1164,
          "startIntronDirection": "+",
          "startIntronOffset": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016859",
      "geneNCBI_id": 9722,
      "geneSymbol": "NOS1AP",
      "hgvs": [
        "ENST00000361897.9:c.762+680C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355133.5:n.762+680C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265698"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 835,
          "endIntronDirection": "+",
          "endIntronOffset": 680,
          "referenceAllele": "C",
          "start": 835,
          "startIntronDirection": "+",
          "startIntronOffset": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016859",
      "geneNCBI_id": 9722,
      "geneSymbol": "NOS1AP",
      "hgvs": [
        "ENST00000430120.3:c.747+680C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396713.3:n.747+680C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290990"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1151,
          "endIntronDirection": "+",
          "endIntronOffset": 680,
          "referenceAllele": "C",
          "start": 1151,
          "startIntronDirection": "+",
          "startIntronOffset": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016859",
      "geneNCBI_id": 9722,
      "geneSymbol": "NOS1AP",
      "hgvs": [
        "ENST00000530878.5:c.747+680C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431586.1:n.747+680C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356061"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1134,
          "endIntronDirection": "+",
          "endIntronOffset": 680,
          "referenceAllele": "C",
          "start": 1134,
          "startIntronDirection": "+",
          "startIntronOffset": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016859",
      "geneNCBI_id": 9722,
      "geneSymbol": "NOS1AP",
      "hgvs": [
        "NM_001164757.1:c.747+680C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001158229.1:n.747+680C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014653"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1149,
          "endIntronDirection": "+",
          "endIntronOffset": 680,
          "referenceAllele": "C",
          "start": 1149,
          "startIntronDirection": "+",
          "startIntronOffset": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016859",
      "geneNCBI_id": 9722,
      "geneSymbol": "NOS1AP",
      "hgvs": [
        "NM_014697.2:c.762+680C="
      ],
      "proteinEffect": {
        "hgvs": "NP_055512.1:n.762+680C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033382"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1249,
          "endIntronDirection": "+",
          "endIntronOffset": 680,
          "referenceAllele": "C",
          "start": 1249,
          "startIntronDirection": "+",
          "startIntronOffset": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016859",
      "geneNCBI_id": 9722,
      "geneSymbol": "NOS1AP",
      "hgvs": [
        "NM_014697.3:c.762+680C="
      ],
      "proteinEffect": {
        "hgvs": "NP_055512.1:n.762+680C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668458",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361897.10:c.762+680C="
          },
          "RefSeq": {
            "hgvs": "NM_014697.3:c.762+680C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355133.5:n.762+680C="
          },
          "RefSeq": {
            "hgvs": "NP_055512.1:n.762+680C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1234,
          "endIntronDirection": "+",
          "endIntronOffset": 680,
          "referenceAllele": "C",
          "start": 1234,
          "startIntronDirection": "+",
          "startIntronOffset": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016859",
      "geneNCBI_id": 9722,
      "geneSymbol": "NOS1AP",
      "hgvs": [
        "NM_001164757.2:c.747+680C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001158229.1:n.747+680C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678385"
    }
  ],
  "type": "nucleotide"
}