{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1752456701",
  "communityStandardTitle": [
    "NM_000603.5(NOS3):c.2324+28C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/753482",
        "rs": 753482
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 151009295,
          "referenceAllele": "C",
          "start": 151009294
        }
      ],
      "hgvs": [
        "NC_000007.14:g.151009295C=",
        "CM000669.2:g.151009295C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 150706383,
          "referenceAllele": "C",
          "start": 150706382
        }
      ],
      "hgvs": [
        "NC_000007.13:g.150706383C=",
        "CM000669.1:g.150706383C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 150337316,
          "referenceAllele": "C",
          "start": 150337315
        }
      ],
      "hgvs": [
        "NC_000007.12:g.150337316C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 23237,
          "referenceAllele": "C",
          "start": 23236
        }
      ],
      "hgvs": [
        "NG_011992.1:g.23237C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002092"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2659,
          "endIntronDirection": "+",
          "endIntronOffset": 28,
          "referenceAllele": "C",
          "start": 2659,
          "startIntronDirection": "+",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "ENST00000297494.8:c.2324+28C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297494.3:n.2324+28C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744533",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297494.8:c.2324+28C="
          },
          "RefSeq": {
            "hgvs": "NM_000603.5:c.2324+28C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297494.3:n.2324+28C="
          },
          "RefSeq": {
            "hgvs": "NP_000594.2:n.2324+28C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2681,
          "endIntronDirection": "+",
          "endIntronOffset": 28,
          "referenceAllele": "C",
          "start": 2681,
          "startIntronDirection": "+",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "ENST00000297494.7:c.2324+28C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297494.3:n.2324+28C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254481"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2051,
          "endIntronDirection": "+",
          "endIntronOffset": 28,
          "referenceAllele": "C",
          "start": 2051,
          "startIntronDirection": "+",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "ENST00000461406.5:c.1706+28C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417143.1:n.1706+28C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305924"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 268,
          "endIntronDirection": "+",
          "endIntronOffset": 28,
          "referenceAllele": "C",
          "start": 268,
          "startIntronDirection": "+",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "ENST00000473057.1:n.268+28C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314890"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 205,
          "endIntronDirection": "+",
          "endIntronOffset": 28,
          "referenceAllele": "C",
          "start": 205,
          "startIntronDirection": "+",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "ENST00000475017.1:c.205+28C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316393"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2620,
          "endIntronDirection": "+",
          "endIntronOffset": 28,
          "referenceAllele": "C",
          "start": 2620,
          "startIntronDirection": "+",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "NM_000603.4:c.2324+28C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000594.2:n.2324+28C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006656"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2659,
          "endIntronDirection": "+",
          "endIntronOffset": 28,
          "referenceAllele": "C",
          "start": 2659,
          "startIntronDirection": "+",
          "startIntronOffset": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007876",
      "geneNCBI_id": 4846,
      "geneSymbol": "NOS3",
      "hgvs": [
        "NM_000603.5:c.2324+28C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000594.2:n.2324+28C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662501",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297494.8:c.2324+28C="
          },
          "RefSeq": {
            "hgvs": "NM_000603.5:c.2324+28C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297494.3:n.2324+28C="
          },
          "RefSeq": {
            "hgvs": "NP_000594.2:n.2324+28C="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}