{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1981496115",
  "communityStandardTitle": [
    "NM_018161.5(NADSYN1):c.86-531A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7944926",
        "rs": 7944926
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 71454579,
          "referenceAllele": "A",
          "start": 71454578
        }
      ],
      "hgvs": [
        "NC_000011.10:g.71454579A=",
        "CM000673.2:g.71454579A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 71165625,
          "referenceAllele": "A",
          "start": 71165624
        }
      ],
      "hgvs": [
        "NC_000011.9:g.71165625A=",
        "CM000673.1:g.71165625A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 70843273,
          "referenceAllele": "A",
          "start": 70843272
        }
      ],
      "hgvs": [
        "NC_000011.8:g.70843273A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 179,
          "endIntronDirection": "-",
          "endIntronOffset": 530,
          "referenceAllele": "A",
          "start": 179,
          "startIntronDirection": "-",
          "startIntronOffset": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "ENST00000319023.7:c.86-531A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326424.2:n.86-531A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746259",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000319023.7:c.86-531A="
          },
          "RefSeq": {
            "hgvs": "NM_018161.5:c.86-531A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326424.2:n.86-531A="
          },
          "RefSeq": {
            "hgvs": "NP_060631.2:n.86-531A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 273,
          "endIntronDirection": "-",
          "endIntronOffset": 530,
          "referenceAllele": "A",
          "start": 273,
          "startIntronDirection": "-",
          "startIntronOffset": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "ENST00000319023.6:c.86-531A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326424.2:n.86-531A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257608"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 151,
          "endIntronDirection": "-",
          "endIntronOffset": 530,
          "referenceAllele": "A",
          "start": 151,
          "startIntronDirection": "-",
          "startIntronOffset": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "ENST00000524949.5:n.152-531A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 26,
          "endIntronDirection": "-",
          "endIntronOffset": 530,
          "referenceAllele": "A",
          "start": 26,
          "startIntronDirection": "-",
          "startIntronOffset": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "ENST00000525245.1:n.27-531A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 141,
          "endIntronDirection": "-",
          "endIntronOffset": 530,
          "referenceAllele": "A",
          "start": 141,
          "startIntronDirection": "-",
          "startIntronOffset": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "ENST00000527538.5:n.142-531A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353224"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 165,
          "endIntronDirection": "-",
          "endIntronOffset": 530,
          "referenceAllele": "A",
          "start": 165,
          "startIntronDirection": "-",
          "startIntronOffset": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "ENST00000528509.5:c.86-531A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433472.1:n.86-531A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 171,
          "endIntronDirection": "-",
          "endIntronOffset": 530,
          "referenceAllele": "A",
          "start": 171,
          "startIntronDirection": "-",
          "startIntronOffset": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "ENST00000529120.5:c.86-531A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437220.1:n.86-531A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 173,
          "endIntronDirection": "-",
          "endIntronOffset": 530,
          "referenceAllele": "A",
          "start": 173,
          "startIntronDirection": "-",
          "startIntronOffset": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "ENST00000533612.1:n.174-531A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358354"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 151,
          "endIntronDirection": "-",
          "endIntronOffset": 530,
          "referenceAllele": "A",
          "start": 151,
          "startIntronDirection": "-",
          "startIntronOffset": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "ENST00000533769.5:n.152-531A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358487"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 273,
          "endIntronDirection": "-",
          "endIntronOffset": 530,
          "referenceAllele": "A",
          "start": 273,
          "startIntronDirection": "-",
          "startIntronOffset": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "ENST00000534634.5:n.274-531A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 211,
          "endIntronDirection": "-",
          "endIntronOffset": 530,
          "referenceAllele": "A",
          "start": 211,
          "startIntronDirection": "-",
          "startIntronOffset": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "NM_018161.4:c.86-531A="
      ],
      "proteinEffect": {
        "hgvs": "NP_060631.2:n.86-531A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035504"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 179,
          "endIntronDirection": "-",
          "endIntronOffset": 530,
          "referenceAllele": "A",
          "start": 179,
          "startIntronDirection": "-",
          "startIntronOffset": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "NM_018161.5:c.86-531A="
      ],
      "proteinEffect": {
        "hgvs": "NP_060631.2:n.86-531A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000319023.7:c.86-531A="
          },
          "RefSeq": {
            "hgvs": "NM_018161.5:c.86-531A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326424.2:n.86-531A="
          },
          "RefSeq": {
            "hgvs": "NP_060631.2:n.86-531A="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}