{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1676706393",
  "communityStandardTitle": [
    "NM_000636.4(SOD2):c.*5303C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4342445",
        "rs": 4342445
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 159677190,
          "referenceAllele": "G",
          "start": 159677189
        }
      ],
      "hgvs": [
        "NC_000006.12:g.159677190G=",
        "CM000668.2:g.159677190G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 160098222,
          "referenceAllele": "G",
          "start": 160098221
        }
      ],
      "hgvs": [
        "NC_000006.11:g.160098222G=",
        "CM000668.1:g.160098222G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 160018212,
          "referenceAllele": "G",
          "start": 160018211
        }
      ],
      "hgvs": [
        "NC_000006.10:g.160018212G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 21132,
          "referenceAllele": "C",
          "start": 21131
        }
      ],
      "hgvs": [
        "NG_008729.1:g.21132C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001187"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 90340,
          "referenceAllele": "C",
          "start": 90339
        }
      ],
      "hgvs": [
        "NG_008729.3:g.90340C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616111"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6046,
          "referenceAllele": "C",
          "start": 6045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011180",
      "geneNCBI_id": 6648,
      "geneSymbol": "SOD2",
      "hgvs": [
        "ENST00000538183.7:c.*5303C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446252.1:n.*5303C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759551",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000538183.7:c.*5303C="
          },
          "RefSeq": {
            "hgvs": "NM_000636.4:c.*5303C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000446252.1:n.*5303C="
          },
          "RefSeq": {
            "hgvs": "NP_000627.2:n.*5303C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6133,
          "referenceAllele": "C",
          "start": 6132
        }
      ],
      "hgvs": [
        "ENST00000538183.6:c.*5303C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446252.1:n.*5303C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361182"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6046,
          "referenceAllele": "C",
          "start": 6045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011180",
      "geneNCBI_id": 6648,
      "geneSymbol": "SOD2",
      "hgvs": [
        "NM_000636.4:c.*5303C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000627.2:n.*5303C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662514",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000538183.7:c.*5303C="
          },
          "RefSeq": {
            "hgvs": "NM_000636.4:c.*5303C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000446252.1:n.*5303C="
          },
          "RefSeq": {
            "hgvs": "NP_000627.2:n.*5303C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5929,
          "referenceAllele": "C",
          "start": 5928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011180",
      "geneNCBI_id": 6648,
      "geneSymbol": "SOD2",
      "hgvs": [
        "NM_001322814.2:c.*5303C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001309743.1:n.*5303C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685803"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5866,
          "referenceAllele": "C",
          "start": 5865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011180",
      "geneNCBI_id": 6648,
      "geneSymbol": "SOD2",
      "hgvs": [
        "NM_001322815.2:c.*5303C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001309744.1:n.*5303C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685804"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6068,
          "referenceAllele": "C",
          "start": 6067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011180",
      "geneNCBI_id": 6648,
      "geneSymbol": "SOD2",
      "hgvs": [
        "NM_001322819.2:c.*5303C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001309748.1:n.*5303C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685806"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6048,
          "referenceAllele": "C",
          "start": 6047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011180",
      "geneNCBI_id": 6648,
      "geneSymbol": "SOD2",
      "hgvs": [
        "NM_001322820.2:c.*5303C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001309749.1:n.*5303C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685807"
    }
  ],
  "type": "nucleotide"
}