{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2231531357",
  "communityStandardTitle": [
    "NM_001361.5(DHODH):c.403C= (p.Arg135=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201230446",
        "rs": 201230446
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 72014641,
          "referenceAllele": "C",
          "start": 72014640
        }
      ],
      "hgvs": [
        "NC_000016.10:g.72014641C=",
        "CM000678.2:g.72014641C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 72048540,
          "referenceAllele": "C",
          "start": 72048539
        }
      ],
      "hgvs": [
        "NC_000016.9:g.72048540C=",
        "CM000678.1:g.72048540C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 70606041,
          "referenceAllele": "C",
          "start": 70606040
        }
      ],
      "hgvs": [
        "NC_000016.8:g.70606041C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10898,
          "referenceAllele": "C",
          "start": 10897
        }
      ],
      "hgvs": [
        "NG_016271.1:g.10898C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003062"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 424,
          "referenceAllele": "C",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002867",
      "geneNCBI_id": 1723,
      "geneSymbol": "DHODH",
      "hgvs": [
        "ENST00000219240.9:c.403C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219240.4:p.Arg135="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740418",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219240.9:c.403C="
          },
          "RefSeq": {
            "hgvs": "NM_001361.5:c.403C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219240.4:p.Arg135="
          },
          "RefSeq": {
            "hgvs": "NP_001352.2:p.Arg135="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 424,
          "referenceAllele": "C",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002867",
      "geneNCBI_id": 1723,
      "geneSymbol": "DHODH",
      "hgvs": [
        "ENST00000219240.8:c.403C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219240.4:p.Arg135="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248166"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 577,
          "referenceAllele": "C",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002867",
      "geneNCBI_id": 1723,
      "geneSymbol": "DHODH",
      "hgvs": [
        "ENST00000571288.6:c.577C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382452"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 223,
          "referenceAllele": "C",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002867",
      "geneNCBI_id": 1723,
      "geneSymbol": "DHODH",
      "hgvs": [
        "ENST00000572003.5:n.223C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382741"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 580,
          "referenceAllele": "C",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002867",
      "geneNCBI_id": 1723,
      "geneSymbol": "DHODH",
      "hgvs": [
        "ENST00000572887.5:c.403C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461848.1:p.Arg135="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383084"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 191,
          "referenceAllele": "C",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002867",
      "geneNCBI_id": 1723,
      "geneSymbol": "DHODH",
      "hgvs": [
        "ENST00000573843.1:n.191C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 199,
          "referenceAllele": "C",
          "start": 198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002867",
      "geneNCBI_id": 1723,
      "geneSymbol": "DHODH",
      "hgvs": [
        "ENST00000573922.5:n.199C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383481"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 399,
          "referenceAllele": "C",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002867",
      "geneNCBI_id": 1723,
      "geneSymbol": "DHODH",
      "hgvs": [
        "ENST00000574309.5:c.399C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383630"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 729,
          "referenceAllele": "C",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002867",
      "geneNCBI_id": 1723,
      "geneSymbol": "DHODH",
      "hgvs": [
        "ENST00000576145.1:c.319C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464333.1:p.Arg107="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384374"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082869289",
      "coordinates": [
        {
          "allele": "C",
          "end": 424,
          "referenceAllele": "C",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002867",
      "geneNCBI_id": 1723,
      "geneSymbol": "DHODH",
      "hgvs": [
        "NM_001361.4:c.403C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001352.2:p.Arg135="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026751"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 729,
          "referenceAllele": "C",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002867",
      "geneNCBI_id": 1723,
      "geneSymbol": "DHODH",
      "hgvs": [
        "XM_005255827.2:c.319C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005255884.1:p.Arg107="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061068"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 729,
          "referenceAllele": "C",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002867",
      "geneNCBI_id": 1723,
      "geneSymbol": "DHODH",
      "hgvs": [
        "XM_005255827.4:c.319C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005255884.1:p.Arg107="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534341"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 191,
          "referenceAllele": "C",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002867",
      "geneNCBI_id": 1723,
      "geneSymbol": "DHODH",
      "hgvs": [
        "XM_005255829.4:c.-202C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005255886.1:n.-202C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534342"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 504,
          "referenceAllele": "C",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002867",
      "geneNCBI_id": 1723,
      "geneSymbol": "DHODH",
      "hgvs": [
        "XM_017022990.2:c.76C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878479.1:p.Arg26="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573825"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082869289",
      "coordinates": [
        {
          "allele": "C",
          "end": 424,
          "referenceAllele": "C",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002867",
      "geneNCBI_id": 1723,
      "geneSymbol": "DHODH",
      "hgvs": [
        "NM_001361.5:c.403C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001352.2:p.Arg135="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664464",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219240.9:c.403C="
          },
          "RefSeq": {
            "hgvs": "NM_001361.5:c.403C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219240.4:p.Arg135="
          },
          "RefSeq": {
            "hgvs": "NP_001352.2:p.Arg135="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}