{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA500453192",
  "communityStandardTitle": [
    "NM_018129.4(PNPO):c.549T>C (p.Tyr183=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=877852[alleleid]",
        "alleleId": 877852,
        "preferredName": "NM_018129.4(PNPO):c.549T>C (p.Tyr183=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/888576",
        "RCV": [
          "RCV001121984"
        ],
        "variationId": 888576
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.46023691T>C?assembly=hg19",
        "id": "chr17:g.46023691T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2036008214",
        "rs": 2036008214
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-47946325-T-C?dataset=gnomad_r4",
        "id": "17-47946325-T-C",
        "variant": "17:47946325 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 47946325,
          "referenceAllele": "T",
          "start": 47946324
        }
      ],
      "hgvs": [
        "NC_000017.11:g.47946325T>C",
        "CM000679.2:g.47946325T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 46023691,
          "referenceAllele": "T",
          "start": 46023690
        }
      ],
      "hgvs": [
        "NC_000017.10:g.46023691T>C",
        "CM000679.1:g.46023691T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 43378690,
          "referenceAllele": "T",
          "start": 43378689
        }
      ],
      "hgvs": [
        "NC_000017.9:g.43378690T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9803,
          "referenceAllele": "T",
          "start": 9802
        }
      ],
      "hgvs": [
        "NG_008744.1:g.9803T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001196"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 529,
          "referenceAllele": "T",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000225573.5:c.420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225573.5:p.Tyr140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740660"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 600,
          "referenceAllele": "T",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000434554.7:c.495T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399960.3:p.Tyr165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755515"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 504,
          "referenceAllele": "T",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000582171.6:c.*214T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463994.1:n.*214T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760920"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 508,
          "referenceAllele": "T",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000583599.6:c.309T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463919.2:p.Tyr103="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 480,
          "referenceAllele": "T",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000584061.6:c.480T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463972.2:p.Tyr160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760964"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 218,
          "referenceAllele": "T",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000584806.2:n.218T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760974"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 329,
          "referenceAllele": "T",
          "start": 328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000641285.1:n.329T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765980"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2048,
          "referenceAllele": "T",
          "start": 2047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000641305.1:n.2048T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765993"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 915,
          "referenceAllele": "T",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000641323.1:c.*568T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492965.1:n.*568T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 549,
          "referenceAllele": "T",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000641427.1:n.549T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766075"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 281,
          "referenceAllele": "T",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000641511.1:c.281T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766134"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 265,
          "referenceAllele": "T",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000641703.1:c.265T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493219.1:n.265T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766278"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 664,
          "referenceAllele": "T",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000641709.1:c.*371T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493349.1:n.*371T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766281"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1356,
          "referenceAllele": "T",
          "start": 1355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000641856.1:c.*1057T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493224.1:n.*1057T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766390"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 654,
          "referenceAllele": "T",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000642017.2:c.549T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493302.2:p.Tyr183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766503",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642017.2:c.549T>C"
          },
          "RefSeq": {
            "hgvs": "NM_018129.4:c.549T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493302.2:p.Tyr183="
          },
          "RefSeq": {
            "hgvs": "NP_060599.1:p.Tyr183="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 654,
          "referenceAllele": "T",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000225573.4:c.549T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225573.4:p.Tyr183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248500"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 525,
          "referenceAllele": "T",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000434554.6:c.420T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399960.2:p.Tyr140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293089"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 475,
          "referenceAllele": "T",
          "start": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000582171.5:c.*214T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463994.1:n.*214T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387141"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 508,
          "referenceAllele": "T",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000583599.5:c.309T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463919.1:p.Tyr103="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 218,
          "referenceAllele": "T",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000584806.1:n.218T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388396"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 299,
          "referenceAllele": "T",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000585320.5:c.*31T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462345.1:n.*31T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388646"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829882922",
      "coordinates": [
        {
          "allele": "C",
          "end": 702,
          "referenceAllele": "T",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "NM_018129.3:c.549T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060599.1:p.Tyr183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035475"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 892,
          "referenceAllele": "T",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "XM_005257500.2:c.309T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257557.1:p.Tyr103="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061728"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 475,
          "referenceAllele": "T",
          "start": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "XM_011524968.1:c.264T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523270.1:p.Tyr88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092087"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 892,
          "referenceAllele": "T",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "XM_005257500.3:c.309T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257557.1:p.Tyr103="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534668"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 475,
          "referenceAllele": "T",
          "start": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "XM_011524968.2:c.264T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523270.1:p.Tyr88="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 490,
          "referenceAllele": "T",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "XM_017024813.1:c.309T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880302.1:p.Tyr103="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829882922",
      "coordinates": [
        {
          "allele": "C",
          "end": 654,
          "referenceAllele": "T",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "NM_018129.4:c.549T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060599.1:p.Tyr183="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697964",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642017.2:c.549T>C"
          },
          "RefSeq": {
            "hgvs": "NM_018129.4:c.549T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493302.2:p.Tyr183="
          },
          "RefSeq": {
            "hgvs": "NP_060599.1:p.Tyr183="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}