{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1441590377",
  "communityStandardTitle": [
    "NM_000320.3(QDPR):c.322T= (p.Trp108=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893864",
        "rs": 104893864
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 17501833,
          "referenceAllele": "A",
          "start": 17501832
        }
      ],
      "hgvs": [
        "NC_000004.12:g.17501833A=",
        "CM000666.2:g.17501833A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 17503456,
          "referenceAllele": "A",
          "start": 17503455
        }
      ],
      "hgvs": [
        "NC_000004.11:g.17503456A=",
        "CM000666.1:g.17503456A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 17112554,
          "referenceAllele": "A",
          "start": 17112553
        }
      ],
      "hgvs": [
        "NC_000004.10:g.17112554A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15402,
          "referenceAllele": "T",
          "start": 15401
        }
      ],
      "hgvs": [
        "NG_008763.1:g.15402T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001203"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1369,
          "referenceAllele": "T",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009752",
      "geneNCBI_id": 5860,
      "geneSymbol": "QDPR",
      "hgvs": [
        "ENST00000706645.1:n.1369T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS913015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "T",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009752",
      "geneNCBI_id": 5860,
      "geneSymbol": "QDPR",
      "hgvs": [
        "ENST00000281243.10:c.322T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000281243.5:p.Trp108="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743601",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000281243.10:c.322T="
          },
          "RefSeq": {
            "hgvs": "NM_000320.3:c.322T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000281243.5:p.Trp108="
          },
          "RefSeq": {
            "hgvs": "NP_000311.2:p.Trp108="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "referenceAllele": "T",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009752",
      "geneNCBI_id": 5860,
      "geneSymbol": "QDPR",
      "hgvs": [
        "ENST00000281243.9:c.322T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000281243.5:p.Trp108="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252987"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 261,
          "referenceAllele": "T",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009752",
      "geneNCBI_id": 5860,
      "geneSymbol": "QDPR",
      "hgvs": [
        "ENST00000428702.6:c.229T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390944.2:p.Trp77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290322"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "referenceAllele": "T",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009752",
      "geneNCBI_id": 5860,
      "geneSymbol": "QDPR",
      "hgvs": [
        "ENST00000505710.1:c.249T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337426"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 337,
          "referenceAllele": "T",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009752",
      "geneNCBI_id": 5860,
      "geneSymbol": "QDPR",
      "hgvs": [
        "ENST00000507439.5:c.322T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423227.1:p.Trp108="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 355,
          "referenceAllele": "T",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009752",
      "geneNCBI_id": 5860,
      "geneSymbol": "QDPR",
      "hgvs": [
        "ENST00000508623.5:c.322T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426377.1:p.Trp108="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339601"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 357,
          "referenceAllele": "T",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009752",
      "geneNCBI_id": 5860,
      "geneSymbol": "QDPR",
      "hgvs": [
        "ENST00000513615.5:c.322T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422759.1:p.Trp108="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 516,
          "referenceAllele": "T",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009752",
      "geneNCBI_id": 5860,
      "geneSymbol": "QDPR",
      "hgvs": [
        "ENST00000514300.1:c.*253T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426039.1:n.*253T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343817"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069884149",
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "referenceAllele": "T",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009752",
      "geneNCBI_id": 5860,
      "geneSymbol": "QDPR",
      "hgvs": [
        "NM_000320.2:c.322T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000311.2:p.Trp108="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 409,
          "referenceAllele": "T",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009752",
      "geneNCBI_id": 5860,
      "geneSymbol": "QDPR",
      "hgvs": [
        "NM_001306140.1:c.229T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001293069.1:p.Trp77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 485,
          "referenceAllele": "T",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009752",
      "geneNCBI_id": 5860,
      "geneSymbol": "QDPR",
      "hgvs": [
        "XR_241677.1:n.485T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "referenceAllele": "T",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009752",
      "geneNCBI_id": 5860,
      "geneSymbol": "QDPR",
      "hgvs": [
        "NR_156494.1:n.502T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531925"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069884149",
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "T",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009752",
      "geneNCBI_id": 5860,
      "geneSymbol": "QDPR",
      "hgvs": [
        "NM_000320.3:c.322T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000311.2:p.Trp108="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662402",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000281243.10:c.322T="
          },
          "RefSeq": {
            "hgvs": "NM_000320.3:c.322T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000281243.5:p.Trp108="
          },
          "RefSeq": {
            "hgvs": "NP_000311.2:p.Trp108="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "referenceAllele": "T",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009752",
      "geneNCBI_id": 5860,
      "geneSymbol": "QDPR",
      "hgvs": [
        "NM_001306140.2:c.229T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001293069.1:p.Trp77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "referenceAllele": "T",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009752",
      "geneNCBI_id": 5860,
      "geneSymbol": "QDPR",
      "hgvs": [
        "NR_156494.2:n.358T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731558"
    }
  ],
  "type": "nucleotide"
}