{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1572617480",
  "communityStandardTitle": [
    "NM_139281.3(WDR36):c.542+30C>A"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10038177",
        "rs": 10038177
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 111100751,
          "referenceAllele": "C",
          "start": 111100750
        }
      ],
      "hgvs": [
        "NC_000005.10:g.111100751C>A",
        "CM000667.2:g.111100751C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 110436450,
          "referenceAllele": "C",
          "start": 110436449
        }
      ],
      "hgvs": [
        "NC_000005.9:g.110436450C>A",
        "CM000667.1:g.110436450C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 110464349,
          "referenceAllele": "C",
          "start": 110464348
        }
      ],
      "hgvs": [
        "NC_000005.8:g.110464349C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13581,
          "referenceAllele": "C",
          "start": 13580
        }
      ],
      "hgvs": [
        "NG_008979.1:g.13581C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001350"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 651,
          "endIntronDirection": "+",
          "endIntronOffset": 30,
          "referenceAllele": "C",
          "start": 651,
          "startIntronDirection": "+",
          "startIntronOffset": 29
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030696",
      "geneNCBI_id": 134430,
      "geneSymbol": "WDR36",
      "hgvs": [
        "ENST00000513710.4:c.542+30C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424628.3:n.542+30C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758331",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000513710.4:c.542+30C>A"
          },
          "RefSeq": {
            "hgvs": "NM_139281.3:c.542+30C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000424628.3:n.542+30C>A"
          },
          "RefSeq": {
            "hgvs": "NP_644810.2:n.542+30C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 424,
          "endIntronDirection": "+",
          "endIntronOffset": 30,
          "referenceAllele": "C",
          "start": 424,
          "startIntronDirection": "+",
          "startIntronOffset": 29
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030696",
      "geneNCBI_id": 134430,
      "geneSymbol": "WDR36",
      "hgvs": [
        "ENST00000504122.2:n.424+30C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 678,
          "endIntronDirection": "+",
          "endIntronOffset": 30,
          "referenceAllele": "C",
          "start": 678,
          "startIntronDirection": "+",
          "startIntronOffset": 29
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030696",
      "geneNCBI_id": 134430,
      "geneSymbol": "WDR36",
      "hgvs": [
        "ENST00000505303.5:n.678+30C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1283,
          "endIntronDirection": "+",
          "endIntronOffset": 30,
          "referenceAllele": "C",
          "start": 1283,
          "startIntronDirection": "+",
          "startIntronOffset": 29
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030696",
      "geneNCBI_id": 134430,
      "geneSymbol": "WDR36",
      "hgvs": [
        "ENST00000506538.6:c.710+30C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423067.2:n.710+30C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338052"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "endIntronDirection": "+",
          "endIntronOffset": 30,
          "referenceAllele": "C",
          "start": 685,
          "startIntronDirection": "+",
          "startIntronOffset": 29
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030696",
      "geneNCBI_id": 134430,
      "geneSymbol": "WDR36",
      "hgvs": [
        "ENST00000513710.3:c.542+30C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424628.3:n.542+30C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 827,
          "endIntronDirection": "+",
          "endIntronOffset": 30,
          "referenceAllele": "C",
          "start": 827,
          "startIntronDirection": "+",
          "startIntronOffset": 29
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030696",
      "geneNCBI_id": 134430,
      "geneSymbol": "WDR36",
      "hgvs": [
        "ENST00000612402.4:c.710+30C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479950.1:n.710+30C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401292"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 827,
          "endIntronDirection": "+",
          "endIntronOffset": 30,
          "referenceAllele": "C",
          "start": 827,
          "startIntronDirection": "+",
          "startIntronOffset": 29
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030696",
      "geneNCBI_id": 134430,
      "geneSymbol": "WDR36",
      "hgvs": [
        "NM_139281.2:c.710+30C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_644810.1:n.710+30C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 725,
          "endIntronDirection": "+",
          "endIntronOffset": 30,
          "referenceAllele": "C",
          "start": 725,
          "startIntronDirection": "+",
          "startIntronOffset": 29
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030696",
      "geneNCBI_id": 134430,
      "geneSymbol": "WDR36",
      "hgvs": [
        "XM_011543163.1:c.710+30C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541465.1:n.710+30C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 651,
          "endIntronDirection": "+",
          "endIntronOffset": 30,
          "referenceAllele": "C",
          "start": 651,
          "startIntronDirection": "+",
          "startIntronOffset": 29
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030696",
      "geneNCBI_id": 134430,
      "geneSymbol": "WDR36",
      "hgvs": [
        "NM_139281.3:c.542+30C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_644810.2:n.542+30C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729227",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000513710.4:c.542+30C>A"
          },
          "RefSeq": {
            "hgvs": "NM_139281.3:c.542+30C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000424628.3:n.542+30C>A"
          },
          "RefSeq": {
            "hgvs": "NP_644810.2:n.542+30C>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}