{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA251375",
  "communityStandardTitle": [
    "NM_000374.5(UROD):c.932A>G (p.Tyr311Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15110[alleleid]",
        "alleleId": 15110,
        "preferredName": "NM_000374.5(UROD):c.932A>G (p.Tyr311Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/71",
        "RCV": [
          "RCV000000089",
          "RCV000626082",
          "RCV001851502"
        ],
        "variationId": 71
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-45480668-A-G",
        "id": "1-45480668-A-G",
        "variant": "1:45480668 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.45480668A>G?assembly=hg19",
        "id": "chr1:g.45480668A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.45014996A>G?assembly=hg38",
        "id": "chr1:g.45014996A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918061",
        "rs": 121918061
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-45480668-A-G?dataset=gnomad_r2_1",
        "id": "1-45480668-A-G",
        "variant": "1:45480668 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-45014996-A-G?dataset=gnomad_r4",
        "id": "1-45014996-A-G",
        "variant": "1:45014996 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 45014996,
          "referenceAllele": "A",
          "start": 45014995
        }
      ],
      "hgvs": [
        "NC_000001.11:g.45014996A>G",
        "CM000663.2:g.45014996A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 45480668,
          "referenceAllele": "A",
          "start": 45480667
        }
      ],
      "hgvs": [
        "NC_000001.10:g.45480668A>G",
        "CM000663.1:g.45480668A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 45253255,
          "referenceAllele": "A",
          "start": 45253254
        }
      ],
      "hgvs": [
        "NC_000001.9:g.45253255A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7839,
          "referenceAllele": "A",
          "start": 7838
        }
      ],
      "hgvs": [
        "NG_007122.2:g.7839A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000496"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1360,
          "referenceAllele": "T",
          "start": 1359
        }
      ],
      "hgvs": [
        "NG_033058.1:g.1360T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005390"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 944,
          "referenceAllele": "A",
          "start": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "ENST00000246337.9:c.932A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000246337.4:p.Tyr311Cys",
        "hgvsWellDefined": "ENSP00000246337.4:p.Tyr311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741293",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000246337.9:c.932A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000374.5:c.932A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000246337.4:p.Tyr311Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000365.3:p.Tyr311Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 862,
          "referenceAllele": "A",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "ENST00000491773.6:c.689A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498551.1:p.Tyr230Cys",
        "hgvsWellDefined": "ENSP00000498551.1:p.Tyr230Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757688"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 853,
          "referenceAllele": "A",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "ENST00000636293.1:c.794A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490710.1:p.Tyr265Cys",
        "hgvsWellDefined": "ENSP00000490710.1:p.Tyr265Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 934,
          "endIntronDirection": "+",
          "endIntronOffset": 160,
          "referenceAllele": "A",
          "start": 934,
          "startIntronDirection": "+",
          "startIntronOffset": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "ENST00000636836.1:c.875+160A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490594.1:n.875+160A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763417"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1086,
          "referenceAllele": "A",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "ENST00000651476.1:c.827A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498668.1:p.Tyr276Cys",
        "hgvsWellDefined": "ENSP00000498668.1:p.Tyr276Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1960,
          "referenceAllele": "A",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "ENST00000652165.1:c.689A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498295.1:p.Tyr230Cys",
        "hgvsWellDefined": "ENSP00000498295.1:p.Tyr230Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772055"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 928,
          "referenceAllele": "A",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "ENST00000652287.1:c.869A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498413.1:p.Tyr290Cys",
        "hgvsWellDefined": "ENSP00000498413.1:p.Tyr290Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 893,
          "referenceAllele": "A",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "ENST00000652514.1:c.893A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498635.1:n.893A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772251"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1051,
          "referenceAllele": "A",
          "start": 1050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "ENST00000246337.8:c.932A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000246337.4:p.Tyr311Cys",
        "hgvsWellDefined": "ENSP00000246337.4:p.Tyr311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249451"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 347,
          "referenceAllele": "A",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "ENST00000465678.1:n.347A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309234"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 458,
          "referenceAllele": "A",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "ENST00000466193.1:n.458A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309626"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 685,
          "referenceAllele": "A",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "ENST00000472254.1:n.685A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314275"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1599,
          "referenceAllele": "A",
          "start": 1598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "ENST00000494399.5:n.1599A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331340"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101746",
      "coordinates": [
        {
          "allele": "G",
          "end": 1065,
          "referenceAllele": "A",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "NM_000374.4:c.932A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000365.3:p.Tyr311Cys",
        "hgvsWellDefined": "NP_000365.3:p.Tyr311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006436"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1115,
          "referenceAllele": "A",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "NR_036510.1:n.1115A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049751"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1039,
          "referenceAllele": "A",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "XM_005271169.1:c.716A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271226.1:p.Tyr239Cys",
        "hgvsWellDefined": "XP_005271226.1:p.Tyr239Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066793"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 963,
          "referenceAllele": "A",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "XM_005271170.1:c.716A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271227.1:p.Tyr239Cys",
        "hgvsWellDefined": "XP_005271227.1:p.Tyr239Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066794"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 907,
          "referenceAllele": "A",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "XM_011542080.1:c.869A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540382.1:p.Tyr290Cys",
        "hgvsWellDefined": "XP_011540382.1:p.Tyr290Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 950,
          "referenceAllele": "A",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "XM_011542081.1:c.764A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540383.1:p.Tyr255Cys",
        "hgvsWellDefined": "XP_011540383.1:p.Tyr255Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101746",
      "coordinates": [
        {
          "allele": "G",
          "end": 944,
          "referenceAllele": "A",
          "start": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "NM_000374.5:c.932A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000365.3:p.Tyr311Cys",
        "hgvsWellDefined": "NP_000365.3:p.Tyr311Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510783",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000246337.9:c.932A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000374.5:c.932A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000246337.4:p.Tyr311Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000365.3:p.Tyr311Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1013,
          "referenceAllele": "A",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "NR_158184.1:n.1013A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS532093"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 963,
          "referenceAllele": "A",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "NR_158185.1:n.963A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS532094"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 994,
          "referenceAllele": "A",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012591",
      "geneNCBI_id": 7389,
      "geneSymbol": "UROD",
      "hgvs": [
        "NR_036510.2:n.994A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702213"
    }
  ],
  "type": "nucleotide"
}