{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA270659",
  "communityStandardTitle": [
    "NM_002764.4(PRPS1):c.343A>G (p.Met115Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=150246[alleleid]",
        "alleleId": 150246,
        "preferredName": "NM_002764.4(PRPS1):c.343A>G (p.Met115Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/140572",
        "RCV": [
          "RCV000143859",
          "RCV000143858"
        ],
        "variationId": 140572
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.106884168A>G?assembly=hg19",
        "id": "chrX:g.106884168A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.107640938A>G?assembly=hg38",
        "id": "chrX:g.107640938A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587781262",
        "rs": 587781262
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 107640938,
          "referenceAllele": "A",
          "start": 107640937
        }
      ],
      "hgvs": [
        "NC_000023.11:g.107640938A>G",
        "CM000685.2:g.107640938A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 106884168,
          "referenceAllele": "A",
          "start": 106884167
        }
      ],
      "hgvs": [
        "NC_000023.10:g.106884168A>G",
        "CM000685.1:g.106884168A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 106770824,
          "referenceAllele": "A",
          "start": 106770823
        }
      ],
      "hgvs": [
        "NC_000023.9:g.106770824A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 17515,
          "referenceAllele": "A",
          "start": 17514
        }
      ],
      "hgvs": [
        "NG_008407.1:g.17515A>G",
        "LRG_264:g.17515A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001086"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 445,
          "endIntronDirection": "-",
          "endIntronOffset": 1427,
          "referenceAllele": "A",
          "start": 445,
          "startIntronDirection": "-",
          "startIntronOffset": 1428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000372418.4:c.307-1428A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361495.2:n.307-1428A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750998"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 462,
          "referenceAllele": "A",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000372435.10:c.343A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361512.4:p.Met115Val",
        "hgvsWellDefined": "ENSP00000361512.4:p.Met115Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751005",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372435.10:c.343A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002764.4:c.343A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361512.4:p.Met115Val"
          },
          "RefSeq": {
            "hgvs": "NP_002755.1:p.Met115Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 544,
          "referenceAllele": "A",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000643795.2:c.343A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496286.1:p.Met115Val",
        "hgvsWellDefined": "ENSP00000496286.1:p.Met115Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767475"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 241,
          "endIntronDirection": "-",
          "endIntronOffset": 4238,
          "referenceAllele": "A",
          "start": 241,
          "startIntronDirection": "-",
          "startIntronOffset": 4239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000644642.1:c.123-4239A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495493.1:n.123-4239A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767915"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 437,
          "referenceAllele": "A",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000645903.1:n.437A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 428,
          "referenceAllele": "A",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000674525.1:n.428A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774480"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 272,
          "referenceAllele": "A",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000674826.1:c.*36A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502278.1:n.*36A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774732"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 184,
          "endIntronDirection": "+",
          "endIntronOffset": 1460,
          "referenceAllele": "A",
          "start": 184,
          "startIntronDirection": "+",
          "startIntronOffset": 1459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000675046.1:c.184+1460A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774921"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 219,
          "referenceAllele": "A",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000675720.1:c.219A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775501"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 361,
          "referenceAllele": "A",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000676092.1:c.343A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502780.1:p.Met115Val",
        "hgvsWellDefined": "ENSP00000502780.1:p.Met115Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775825"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 121,
          "endIntronDirection": "-",
          "endIntronOffset": 1427,
          "referenceAllele": "A",
          "start": 121,
          "startIntronDirection": "-",
          "startIntronOffset": 1428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000372418.2:c.106-1428A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361495.1:n.106-1428A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 442,
          "referenceAllele": "A",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000372419.3:c.343A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361496.3:p.Met115Val",
        "hgvsWellDefined": "ENSP00000361496.3:p.Met115Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 327,
          "endIntronDirection": "-",
          "endIntronOffset": 4238,
          "referenceAllele": "A",
          "start": 327,
          "startIntronDirection": "-",
          "startIntronOffset": 4239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000372428.8:c.-82-4239A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361505.5:n.-82-4239A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269093"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 465,
          "referenceAllele": "A",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000372435.8:c.343A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361512.4:p.Met115Val",
        "hgvsWellDefined": "ENSP00000361512.4:p.Met115Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269100"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 327,
          "endIntronDirection": "-",
          "endIntronOffset": 4238,
          "referenceAllele": "A",
          "start": 327,
          "startIntronDirection": "-",
          "startIntronOffset": 4239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "NM_001204402.1:c.-82-4239A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191331.1:n.-82-4239A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017638"
    },
    {
      "@id": "http://reg.genome.network/allele/PA270661",
      "coordinates": [
        {
          "allele": "G",
          "end": 548,
          "referenceAllele": "A",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "NM_002764.3:c.343A>G",
        "LRG_264t1:c.343A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002755.1:p.Met115Val",
        "hgvsWellDefined": "NP_002755.1:p.Met115Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028050"
    },
    {
      "@id": "http://reg.genome.network/allele/PA270661",
      "coordinates": [
        {
          "allele": "G",
          "end": 462,
          "referenceAllele": "A",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "NM_002764.4:c.343A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002755.1:p.Met115Val",
        "hgvsWellDefined": "NP_002755.1:p.Met115Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695634",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372435.10:c.343A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002764.4:c.343A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361512.4:p.Met115Val"
          },
          "RefSeq": {
            "hgvs": "NP_002755.1:p.Met115Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 241,
          "endIntronDirection": "-",
          "endIntronOffset": 4238,
          "referenceAllele": "A",
          "start": 241,
          "startIntronDirection": "-",
          "startIntronOffset": 4239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "NM_001204402.2:c.-82-4239A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191331.1:n.-82-4239A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714153"
    }
  ],
  "type": "nucleotide"
}