{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1752466943",
  "communityStandardTitle": [
    "NM_000603.5(NOS3):c.-52+1009A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1800783",
        "rs": 1800783
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 150992309,
          "referenceAllele": "A",
          "start": 150992308
        }
      ],
      "hgvs": [
        "NC_000007.14:g.150992309A=",
        "CM000669.2:g.150992309A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 150689397,
          "referenceAllele": "A",
          "start": 150689396
        }
      ],
      "hgvs": [
        "NC_000007.13:g.150689397A=",
        "CM000669.1:g.150689397A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 150320330,
          "referenceAllele": "A",
          "start": 150320329
        }
      ],
      "hgvs": [
        "NC_000007.12:g.150320330A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6251,
          "referenceAllele": "A",
          "start": 6250
        }
      ],
      "hgvs": [
        "NG_011992.1:g.6251A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002092"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 284,
          "endIntronDirection": "+",
          "endIntronOffset": 1009,
          "referenceAllele": "A",
          "start": 284,
          "startIntronDirection": "+",
          "startIntronOffset": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "ENST00000297494.8:c.-52+1009A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297494.3:n.-52+1009A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744533",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297494.8:c.-52+1009A="
          },
          "RefSeq": {
            "hgvs": "NM_000603.5:c.-52+1009A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297494.3:n.-52+1009A="
          },
          "RefSeq": {
            "hgvs": "NP_000594.2:n.-52+1009A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 306,
          "endIntronDirection": "+",
          "endIntronOffset": 1009,
          "referenceAllele": "A",
          "start": 306,
          "startIntronDirection": "+",
          "startIntronOffset": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "ENST00000297494.7:c.-52+1009A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297494.3:n.-52+1009A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 197,
          "endIntronDirection": "+",
          "endIntronOffset": 1009,
          "referenceAllele": "A",
          "start": 197,
          "startIntronDirection": "+",
          "startIntronOffset": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "ENST00000461406.5:c.-149+1009A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417143.1:n.-149+1009A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 245,
          "endIntronDirection": "+",
          "endIntronOffset": 1009,
          "referenceAllele": "A",
          "start": 245,
          "startIntronDirection": "+",
          "startIntronOffset": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "NM_000603.4:c.-52+1009A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000594.2:n.-52+1009A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006656"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 284,
          "endIntronDirection": "+",
          "endIntronOffset": 1009,
          "referenceAllele": "A",
          "start": 284,
          "startIntronDirection": "+",
          "startIntronOffset": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "NM_000603.5:c.-52+1009A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000594.2:n.-52+1009A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662501",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297494.8:c.-52+1009A="
          },
          "RefSeq": {
            "hgvs": "NM_000603.5:c.-52+1009A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297494.3:n.-52+1009A="
          },
          "RefSeq": {
            "hgvs": "NP_000594.2:n.-52+1009A="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}