{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1140888466",
  "communityStandardTitle": [
    "NM_000374.5(UROD):c.*3G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/74349352",
        "rs": 74349352
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 45015501,
          "referenceAllele": "G",
          "start": 45015500
        }
      ],
      "hgvs": [
        "NC_000001.11:g.45015501G=",
        "CM000663.2:g.45015501G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 45481173,
          "referenceAllele": "G",
          "start": 45481172
        }
      ],
      "hgvs": [
        "NC_000001.10:g.45481173G=",
        "CM000663.1:g.45481173G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 45253760,
          "referenceAllele": "G",
          "start": 45253759
        }
      ],
      "hgvs": [
        "NC_000001.9:g.45253760G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8344,
          "referenceAllele": "G",
          "start": 8343
        }
      ],
      "hgvs": [
        "NG_007122.2:g.8344G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000496"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 855,
          "referenceAllele": "C",
          "start": 854
        }
      ],
      "hgvs": [
        "NG_033058.1:g.855C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005390"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1119,
          "referenceAllele": "G",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "ENST00000246337.9:c.*3G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000246337.4:n.*3G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741293",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000246337.9:c.*3G="
          },
          "RefSeq": {
            "hgvs": "NM_000374.5:c.*3G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000246337.4:n.*3G="
          },
          "RefSeq": {
            "hgvs": "NP_000365.3:n.*3G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1037,
          "referenceAllele": "G",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "ENST00000491773.6:c.*3G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498551.1:n.*3G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757688"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1028,
          "referenceAllele": "G",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "ENST00000636293.1:c.*3G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490710.1:n.*3G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1099,
          "referenceAllele": "G",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "ENST00000636836.1:c.*143G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490594.1:n.*143G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763417"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1261,
          "referenceAllele": "G",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "ENST00000651476.1:c.*3G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498668.1:n.*3G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2135,
          "referenceAllele": "G",
          "start": 2134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "ENST00000652165.1:c.*3G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498295.1:n.*3G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772055"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1103,
          "referenceAllele": "G",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "ENST00000652287.1:c.*3G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498413.1:n.*3G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1068,
          "referenceAllele": "G",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "ENST00000652514.1:c.1068G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498635.1:n.1068G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772251"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1226,
          "referenceAllele": "G",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "ENST00000246337.8:c.*3G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000246337.4:n.*3G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249451"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 860,
          "referenceAllele": "G",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "ENST00000472254.1:n.860G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1774,
          "referenceAllele": "G",
          "start": 1773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "ENST00000494399.5:n.1774G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331340"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1240,
          "referenceAllele": "G",
          "start": 1239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "NM_000374.4:c.*3G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000365.3:n.*3G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006436"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1290,
          "referenceAllele": "G",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "NR_036510.1:n.1290G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049751"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1214,
          "referenceAllele": "G",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "XM_005271169.1:c.*3G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005271226.1:n.*3G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066793"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1138,
          "referenceAllele": "G",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "XM_005271170.1:c.*3G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005271227.1:n.*3G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066794"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1082,
          "referenceAllele": "G",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "XM_011542080.1:c.*3G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011540382.1:n.*3G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1125,
          "referenceAllele": "G",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "XM_011542081.1:c.*3G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011540383.1:n.*3G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1119,
          "referenceAllele": "G",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "NM_000374.5:c.*3G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000365.3:n.*3G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510783",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000246337.9:c.*3G="
          },
          "RefSeq": {
            "hgvs": "NM_000374.5:c.*3G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000246337.4:n.*3G="
          },
          "RefSeq": {
            "hgvs": "NP_000365.3:n.*3G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1188,
          "referenceAllele": "G",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "NR_158184.1:n.1188G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS532093"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1138,
          "referenceAllele": "G",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "NR_158185.1:n.1138G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS532094"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1169,
          "referenceAllele": "G",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "NR_036510.2:n.1169G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702213"
    }
  ],
  "type": "nucleotide"
}