{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA270662",
  "communityStandardTitle": [
    "NM_002764.4(PRPS1):c.925G>T (p.Val309Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=150247[alleleid]",
        "alleleId": 150247,
        "preferredName": "NM_002764.4(PRPS1):c.925G>T (p.Val309Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/140573",
        "RCV": [
          "RCV000143860"
        ],
        "variationId": 140573
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.106893230G>T?assembly=hg19",
        "id": "chrX:g.106893230G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.107650000G>T?assembly=hg38",
        "id": "chrX:g.107650000G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587781263",
        "rs": 587781263
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 107650000,
          "referenceAllele": "G",
          "start": 107649999
        }
      ],
      "hgvs": [
        "NC_000023.11:g.107650000G>T",
        "CM000685.2:g.107650000G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 106893230,
          "referenceAllele": "G",
          "start": 106893229
        }
      ],
      "hgvs": [
        "NC_000023.10:g.106893230G>T",
        "CM000685.1:g.106893230G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 106779886,
          "referenceAllele": "G",
          "start": 106779885
        }
      ],
      "hgvs": [
        "NC_000023.9:g.106779886G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26577,
          "referenceAllele": "G",
          "start": 26576
        }
      ],
      "hgvs": [
        "NG_008407.1:g.26577G>T",
        "LRG_264:g.26577G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001086"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 965,
          "referenceAllele": "G",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000372418.4:c.826G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361495.2:p.Val276Phe",
        "hgvsWellDefined": "ENSP00000361495.2:p.Val276Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750998"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 308,
          "referenceAllele": "G",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000372428.9:c.308G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS751001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1044,
          "referenceAllele": "G",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000372435.10:c.925G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361512.4:p.Val309Phe",
        "hgvsWellDefined": "ENSP00000361512.4:p.Val309Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751005",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372435.10:c.925G>T"
          },
          "RefSeq": {
            "hgvs": "NM_002764.4:c.925G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361512.4:p.Val309Phe"
          },
          "RefSeq": {
            "hgvs": "NP_002755.1:p.Val309Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1002,
          "endIntronDirection": "-",
          "endIntronOffset": 577,
          "referenceAllele": "G",
          "start": 1002,
          "startIntronDirection": "-",
          "startIntronOffset": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000643795.2:c.802-578G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496286.1:n.802-578G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 636,
          "referenceAllele": "G",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000644642.1:c.*394G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495493.1:n.*394G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 854,
          "referenceAllele": "G",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000674826.1:c.*618G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502278.1:n.*618G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774732"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 61,
          "referenceAllele": "G",
          "start": 60
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000675263.1:c.61G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502081.1:p.Val21Phe",
        "hgvsWellDefined": "ENSP00000502081.1:p.Val21Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 517,
          "referenceAllele": "G",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000675353.1:c.517G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21,
          "endIntronDirection": "-",
          "endIntronOffset": 615,
          "referenceAllele": "G",
          "start": 21,
          "startIntronDirection": "-",
          "startIntronOffset": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000675875.1:c.22-616G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775639"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 437,
          "referenceAllele": "G",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000676092.1:c.*53G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502780.1:n.*53G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775825"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 61,
          "referenceAllele": "G",
          "start": 60
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000676322.1:c.61G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501977.1:p.Val21Phe",
        "hgvsWellDefined": "ENSP00000501977.1:p.Val21Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000676365.1:c.493G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 641,
          "referenceAllele": "G",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000372418.2:c.625G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361495.1:p.Val209Phe",
        "hgvsWellDefined": "ENSP00000361495.1:p.Val209Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 722,
          "referenceAllele": "G",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000372428.8:c.313G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361505.5:p.Val105Phe",
        "hgvsWellDefined": "ENSP00000361505.5:p.Val105Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269093"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1047,
          "referenceAllele": "G",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000372435.8:c.925G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361512.4:p.Val309Phe",
        "hgvsWellDefined": "ENSP00000361512.4:p.Val309Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269100"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826271961",
      "coordinates": [
        {
          "allele": "T",
          "end": 722,
          "referenceAllele": "G",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "NM_001204402.1:c.313G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191331.1:p.Val105Phe",
        "hgvsWellDefined": "NP_001191331.1:p.Val105Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017638"
    },
    {
      "@id": "http://reg.genome.network/allele/PA270664",
      "coordinates": [
        {
          "allele": "T",
          "end": 1130,
          "referenceAllele": "G",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "NM_002764.3:c.925G>T",
        "LRG_264t1:c.925G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002755.1:p.Val309Phe",
        "hgvsWellDefined": "NP_002755.1:p.Val309Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028050"
    },
    {
      "@id": "http://reg.genome.network/allele/PA270664",
      "coordinates": [
        {
          "allele": "T",
          "end": 1044,
          "referenceAllele": "G",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "NM_002764.4:c.925G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002755.1:p.Val309Phe",
        "hgvsWellDefined": "NP_002755.1:p.Val309Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695634",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372435.10:c.925G>T"
          },
          "RefSeq": {
            "hgvs": "NM_002764.4:c.925G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361512.4:p.Val309Phe"
          },
          "RefSeq": {
            "hgvs": "NP_002755.1:p.Val309Phe"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826271961",
      "coordinates": [
        {
          "allele": "T",
          "end": 636,
          "referenceAllele": "G",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "NM_001204402.2:c.313G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191331.1:p.Val105Phe",
        "hgvsWellDefined": "NP_001191331.1:p.Val105Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714153"
    }
  ],
  "type": "nucleotide"
}