{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412567630",
  "communityStandardTitle": [
    "NM_000444.6(PHEX):c.253T>C (p.Cys85Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=432128[alleleid]",
        "alleleId": 432128,
        "preferredName": "NM_000444.6(PHEX):c.253T>C (p.Cys85Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/438549",
        "RCV": [
          "RCV000505475"
        ],
        "variationId": 438549
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.22065233T>C?assembly=hg19",
        "id": "chrX:g.22065233T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.22047115T>C?assembly=hg38",
        "id": "chrX:g.22047115T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1556014287",
        "rs": 1556014287
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 22047115,
          "referenceAllele": "T",
          "start": 22047114
        }
      ],
      "hgvs": [
        "NC_000023.11:g.22047115T>C",
        "CM000685.2:g.22047115T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 22065233,
          "referenceAllele": "T",
          "start": 22065232
        }
      ],
      "hgvs": [
        "NC_000023.10:g.22065233T>C",
        "CM000685.1:g.22065233T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 21975154,
          "referenceAllele": "T",
          "start": 21975153
        }
      ],
      "hgvs": [
        "NC_000023.9:g.21975154T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 19313,
          "referenceAllele": "T",
          "start": 19312
        }
      ],
      "hgvs": [
        "NG_007563.2:g.19313T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000650"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 679,
          "referenceAllele": "T",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "ENST00000475778.2:n.679T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825266"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 544,
          "endIntronDirection": "+",
          "endIntronOffset": 13992,
          "referenceAllele": "T",
          "start": 544,
          "startIntronDirection": "+",
          "startIntronOffset": 13991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "ENST00000683214.1:n.544+13992T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828196"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 678,
          "referenceAllele": "T",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "ENST00000684143.1:c.253T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508264.1:p.Cys85Arg",
        "hgvsWellDefined": "ENSP00000508264.1:p.Cys85Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829101"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 934,
          "referenceAllele": "T",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "ENST00000379374.5:c.253T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368682.4:p.Cys85Arg",
        "hgvsWellDefined": "ENSP00000368682.4:p.Cys85Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752217",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379374.5:c.253T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000444.6:c.253T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368682.4:p.Cys85Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000435.3:p.Cys85Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 818,
          "referenceAllele": "T",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "ENST00000379374.4:c.253T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368682.4:p.Cys85Arg",
        "hgvsWellDefined": "ENSP00000368682.4:p.Cys85Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272467"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109912",
      "coordinates": [
        {
          "allele": "C",
          "end": 815,
          "referenceAllele": "T",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "NM_000444.5:c.253T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000435.3:p.Cys85Arg",
        "hgvsWellDefined": "NP_000435.3:p.Cys85Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916013840",
      "coordinates": [
        {
          "allele": "C",
          "end": 815,
          "referenceAllele": "T",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "NM_001282754.1:c.253T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269683.1:p.Cys85Arg",
        "hgvsWellDefined": "NP_001269683.1:p.Cys85Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022224"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 932,
          "referenceAllele": "T",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "XM_011545535.1:c.253T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543837.1:p.Cys85Arg",
        "hgvsWellDefined": "XP_011543837.1:p.Cys85Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112435"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 355,
          "referenceAllele": "T",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "XM_024452390.1:c.-39T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308158.1:n.-39T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585885"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 932,
          "referenceAllele": "T",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "XR_001755695.1:n.932T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601328"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109912",
      "coordinates": [
        {
          "allele": "C",
          "end": 934,
          "referenceAllele": "T",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "NM_000444.6:c.253T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000435.3:p.Cys85Arg",
        "hgvsWellDefined": "NP_000435.3:p.Cys85Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662448",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379374.5:c.253T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000444.6:c.253T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368682.4:p.Cys85Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000435.3:p.Cys85Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916013840",
      "coordinates": [
        {
          "allele": "C",
          "end": 934,
          "referenceAllele": "T",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "NM_001282754.2:c.253T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269683.1:p.Cys85Arg",
        "hgvsWellDefined": "NP_001269683.1:p.Cys85Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681890"
    }
  ],
  "type": "nucleotide"
}