{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA358883",
  "communityStandardTitle": [
    "NM_000375.3(UROS):c.-203T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18801[alleleid]",
        "alleleId": 18801,
        "preferredName": "NM_000375.3(UROS):c.-203T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3762",
        "RCV": [
          "RCV000003960"
        ],
        "variationId": 3762
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.127511774A>G?assembly=hg19",
        "id": "chr10:g.127511774A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.125823205A>G?assembly=hg38",
        "id": "chr10:g.125823205A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1554891988",
        "rs": 1554891988
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-125823205-A-G?dataset=gnomad_r3",
        "id": "10-125823205-A-G",
        "variant": "10:125823205 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-125823205-A-G?dataset=gnomad_r4",
        "id": "10-125823205-A-G",
        "variant": "10:125823205 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 125823205,
          "referenceAllele": "A",
          "start": 125823204
        }
      ],
      "hgvs": [
        "NC_000010.11:g.125823205A>G",
        "CM000672.2:g.125823205A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 127511774,
          "referenceAllele": "A",
          "start": 127511773
        }
      ],
      "hgvs": [
        "NC_000010.10:g.127511774A>G",
        "CM000672.1:g.127511774A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 127501764,
          "referenceAllele": "A",
          "start": 127501763
        }
      ],
      "hgvs": [
        "NC_000010.9:g.127501764A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5064,
          "referenceAllele": "T",
          "start": 5063
        }
      ],
      "hgvs": [
        "NG_011557.1:g.5064T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001817"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4671,
          "referenceAllele": "A",
          "start": 4670
        }
      ],
      "hgvs": [
        "NG_029095.1:g.4671A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004249"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5064,
          "referenceAllele": "T",
          "start": 5063
        }
      ],
      "hgvs": [
        "NG_011557.2:g.5064T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616140"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 84,
          "referenceAllele": "T",
          "start": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "ENST00000713579.1:c.-203T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518871.1:n.-203T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914860"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 54,
          "referenceAllele": "T",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "ENST00000368797.10:c.-203T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357787.4:n.-203T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750284",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368797.10:c.-203T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000375.3:c.-203T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357787.4:n.-203T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000366.1:n.-203T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7,
          "referenceAllele": "T",
          "start": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "ENST00000648119.1:c.-203T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497494.1:n.-203T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 23,
          "referenceAllele": "T",
          "start": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "ENST00000368797.8:c.-203T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357787.4:n.-203T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267183"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 44,
          "referenceAllele": "T",
          "start": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "ENST00000420761.5:c.-203T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414833.1:n.-203T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286474"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 64,
          "referenceAllele": "T",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NM_000375.2:c.-203T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000366.1:n.-203T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006437"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 38,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 38,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "XM_006717960.2:c.-27+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718023.1:n.-27+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072405"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 54,
          "referenceAllele": "T",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NM_000375.3:c.-203T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000366.1:n.-203T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368797.10:c.-203T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000375.3:c.-203T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357787.4:n.-203T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000366.1:n.-203T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 64,
          "referenceAllele": "T",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NM_001324036.1:c.-203T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310965.1:n.-203T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515675"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 64,
          "referenceAllele": "T",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NM_001324037.1:c.-203T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310966.1:n.-203T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515676"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 64,
          "referenceAllele": "T",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NM_001324038.1:c.-203T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310967.1:n.-203T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515677"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 64,
          "referenceAllele": "T",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NM_001324039.1:c.-203T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310968.1:n.-203T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515678"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 64,
          "referenceAllele": "T",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NR_136675.1:n.64T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528958"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 64,
          "referenceAllele": "T",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NR_136676.1:n.64T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528959"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 64,
          "referenceAllele": "T",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NR_136677.1:n.64T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528960"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 64,
          "referenceAllele": "T",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NR_136678.1:n.64T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528961"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 38,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 38,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "XM_017016611.2:c.-27+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872100.2:n.-27+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569000"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 38,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 38,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "XM_024448154.1:c.-27+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303922.1:n.-27+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581734"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 76,
          "referenceAllele": "T",
          "start": 75
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "XM_024448155.1:c.-203T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303923.1:n.-203T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581735"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 38,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 38,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "XR_002957010.1:n.38+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603147"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 54,
          "referenceAllele": "T",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NM_001324036.2:c.-203T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310965.1:n.-203T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686182"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 54,
          "referenceAllele": "T",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NM_001324037.2:c.-203T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310966.1:n.-203T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686183"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 54,
          "referenceAllele": "T",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NM_001324038.2:c.-203T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310967.1:n.-203T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686184"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 54,
          "referenceAllele": "T",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NR_136675.2:n.54T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703929"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 54,
          "referenceAllele": "T",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NR_136676.2:n.54T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703930"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 54,
          "referenceAllele": "T",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NR_136678.2:n.54T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703931"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 54,
          "referenceAllele": "T",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NM_001324039.2:c.-203T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310968.1:n.-203T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718395"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 54,
          "referenceAllele": "T",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NR_136677.2:n.54T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731017"
    }
  ],
  "type": "nucleotide"
}