{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA13421510",
  "communityStandardTitle": [
    "NM_018161.5(NADSYN1):c.799-1762C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.71187679C>T?assembly=hg19",
        "id": "chr11:g.71187679C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.71476633C>T?assembly=hg38",
        "id": "chr11:g.71476633C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3794060",
        "rs": 3794060
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-71187679-C-T?dataset=gnomad_r2_1",
        "id": "11-71187679-C-T",
        "variant": "11:71187679 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-71476633-C-T?dataset=gnomad_r3",
        "id": "11-71476633-C-T",
        "variant": "11:71476633 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-71476633-C-T?dataset=gnomad_r4",
        "id": "11-71476633-C-T",
        "variant": "11:71476633 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 71476633,
          "referenceAllele": "C",
          "start": 71476632
        }
      ],
      "hgvs": [
        "NC_000011.10:g.71476633C>T",
        "CM000673.2:g.71476633C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 71187679,
          "referenceAllele": "C",
          "start": 71187678
        }
      ],
      "hgvs": [
        "NC_000011.9:g.71187679C>T",
        "CM000673.1:g.71187679C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 70865327,
          "referenceAllele": "C",
          "start": 70865326
        }
      ],
      "hgvs": [
        "NC_000011.8:g.70865327C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 892,
          "endIntronDirection": "-",
          "endIntronOffset": 1761,
          "referenceAllele": "C",
          "start": 892,
          "startIntronDirection": "-",
          "startIntronOffset": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "ENST00000319023.7:c.799-1762C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326424.2:n.799-1762C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746259",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000319023.7:c.799-1762C>T"
          },
          "RefSeq": {
            "hgvs": "NM_018161.5:c.799-1762C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326424.2:n.799-1762C>T"
          },
          "RefSeq": {
            "hgvs": "NP_060631.2:n.799-1762C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 132,
          "endIntronDirection": "-",
          "endIntronOffset": 711,
          "referenceAllele": "C",
          "start": 132,
          "startIntronDirection": "-",
          "startIntronOffset": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "ENST00000527852.6:c.133-712C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431515.2:n.133-712C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759053"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 986,
          "endIntronDirection": "-",
          "endIntronOffset": 1761,
          "referenceAllele": "C",
          "start": 986,
          "startIntronDirection": "-",
          "startIntronOffset": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "ENST00000319023.6:c.799-1762C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326424.2:n.799-1762C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1299,
          "referenceAllele": "C",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "ENST00000525200.5:c.1299C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2407,
          "referenceAllele": "C",
          "start": 2406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "ENST00000528509.5:c.*1442C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433472.1:n.*1442C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 156,
          "endIntronDirection": "-",
          "endIntronOffset": 1761,
          "referenceAllele": "C",
          "start": 156,
          "startIntronDirection": "-",
          "startIntronOffset": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "ENST00000530534.1:n.157-1762C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 924,
          "endIntronDirection": "-",
          "endIntronOffset": 1761,
          "referenceAllele": "C",
          "start": 924,
          "startIntronDirection": "-",
          "startIntronOffset": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "NM_018161.4:c.799-1762C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060631.2:n.799-1762C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035504"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 892,
          "endIntronDirection": "-",
          "endIntronOffset": 1761,
          "referenceAllele": "C",
          "start": 892,
          "startIntronDirection": "-",
          "startIntronOffset": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029832",
      "geneNCBI_id": 55191,
      "geneSymbol": "NADSYN1",
      "hgvs": [
        "NM_018161.5:c.799-1762C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060631.2:n.799-1762C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697973",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000319023.7:c.799-1762C>T"
          },
          "RefSeq": {
            "hgvs": "NM_018161.5:c.799-1762C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000326424.2:n.799-1762C>T"
          },
          "RefSeq": {
            "hgvs": "NP_060631.2:n.799-1762C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}