{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA267604",
  "communityStandardTitle": [
    "NM_002764.4(PRPS1):c.362C>G (p.Ala121Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=106633[alleleid]",
        "alleleId": 106633,
        "preferredName": "NM_002764.4(PRPS1):c.362C>G (p.Ala121Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/100767",
        "RCV": [
          "RCV000087131"
        ],
        "variationId": 100767
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.106884187C>G?assembly=hg19",
        "id": "chrX:g.106884187C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.107640957C>G?assembly=hg38",
        "id": "chrX:g.107640957C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587777150",
        "rs": 587777150
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 107640957,
          "referenceAllele": "C",
          "start": 107640956
        }
      ],
      "hgvs": [
        "NC_000023.11:g.107640957C>G",
        "CM000685.2:g.107640957C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 106884187,
          "referenceAllele": "C",
          "start": 106884186
        }
      ],
      "hgvs": [
        "NC_000023.10:g.106884187C>G",
        "CM000685.1:g.106884187C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 106770843,
          "referenceAllele": "C",
          "start": 106770842
        }
      ],
      "hgvs": [
        "NC_000023.9:g.106770843C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 17534,
          "referenceAllele": "C",
          "start": 17533
        }
      ],
      "hgvs": [
        "NG_008407.1:g.17534C>G",
        "LRG_264:g.17534C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001086"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 445,
          "endIntronDirection": "-",
          "endIntronOffset": 1408,
          "referenceAllele": "C",
          "start": 445,
          "startIntronDirection": "-",
          "startIntronOffset": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000372418.4:c.307-1409C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361495.2:n.307-1409C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750998"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 481,
          "referenceAllele": "C",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000372435.10:c.362C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361512.4:p.Ala121Gly",
        "hgvsWellDefined": "ENSP00000361512.4:p.Ala121Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751005",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372435.10:c.362C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002764.4:c.362C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361512.4:p.Ala121Gly"
          },
          "RefSeq": {
            "hgvs": "NP_002755.1:p.Ala121Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000643795.2:c.362C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496286.1:p.Ala121Gly",
        "hgvsWellDefined": "ENSP00000496286.1:p.Ala121Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767475"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 241,
          "endIntronDirection": "-",
          "endIntronOffset": 4219,
          "referenceAllele": "C",
          "start": 241,
          "startIntronDirection": "-",
          "startIntronOffset": 4220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000644642.1:c.123-4220C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495493.1:n.123-4220C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767915"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 456,
          "referenceAllele": "C",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000645903.1:n.456C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000674525.1:n.447C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774480"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 291,
          "referenceAllele": "C",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000674826.1:c.*55C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502278.1:n.*55C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774732"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 184,
          "endIntronDirection": "+",
          "endIntronOffset": 1479,
          "referenceAllele": "C",
          "start": 184,
          "startIntronDirection": "+",
          "startIntronOffset": 1478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000675046.1:c.184+1479C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774921"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 238,
          "referenceAllele": "C",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000675720.1:c.238C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775501"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 376,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 376,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000676092.1:c.358+4C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502780.1:n.358+4C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775825"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 121,
          "endIntronDirection": "-",
          "endIntronOffset": 1408,
          "referenceAllele": "C",
          "start": 121,
          "startIntronDirection": "-",
          "startIntronOffset": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000372418.2:c.106-1409C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361495.1:n.106-1409C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 461,
          "referenceAllele": "C",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000372419.3:c.362C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361496.3:p.Ala121Gly",
        "hgvsWellDefined": "ENSP00000361496.3:p.Ala121Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 327,
          "endIntronDirection": "-",
          "endIntronOffset": 4219,
          "referenceAllele": "C",
          "start": 327,
          "startIntronDirection": "-",
          "startIntronOffset": 4220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000372428.8:c.-82-4220C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361505.5:n.-82-4220C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269093"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 484,
          "referenceAllele": "C",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "ENST00000372435.8:c.362C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361512.4:p.Ala121Gly",
        "hgvsWellDefined": "ENSP00000361512.4:p.Ala121Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269100"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 327,
          "endIntronDirection": "-",
          "endIntronOffset": 4219,
          "referenceAllele": "C",
          "start": 327,
          "startIntronDirection": "-",
          "startIntronOffset": 4220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "NM_001204402.1:c.-82-4220C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191331.1:n.-82-4220C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017638"
    },
    {
      "@id": "http://reg.genome.network/allele/PA267606",
      "coordinates": [
        {
          "allele": "G",
          "end": 567,
          "referenceAllele": "C",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "NM_002764.3:c.362C>G",
        "LRG_264t1:c.362C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002755.1:p.Ala121Gly",
        "hgvsWellDefined": "NP_002755.1:p.Ala121Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028050"
    },
    {
      "@id": "http://reg.genome.network/allele/PA267606",
      "coordinates": [
        {
          "allele": "G",
          "end": 481,
          "referenceAllele": "C",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "NM_002764.4:c.362C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002755.1:p.Ala121Gly",
        "hgvsWellDefined": "NP_002755.1:p.Ala121Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695634",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372435.10:c.362C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002764.4:c.362C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361512.4:p.Ala121Gly"
          },
          "RefSeq": {
            "hgvs": "NP_002755.1:p.Ala121Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 241,
          "endIntronDirection": "-",
          "endIntronOffset": 4219,
          "referenceAllele": "C",
          "start": 241,
          "startIntronDirection": "-",
          "startIntronOffset": 4220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009462",
      "geneNCBI_id": 5631,
      "geneSymbol": "PRPS1",
      "hgvs": [
        "NM_001204402.2:c.-82-4220C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191331.1:n.-82-4220C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714153"
    }
  ],
  "type": "nucleotide"
}