{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8629176",
  "communityStandardTitle": [
    "NM_018129.4(PNPO):c.413G>A (p.Arg138His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=845556[alleleid]",
        "alleleId": 845556,
        "preferredName": "NM_018129.4(PNPO):c.413G>A (p.Arg138His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/836375",
        "RCV": [
          "RCV001037490",
          "RCV001547187"
        ],
        "variationId": 836375
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-46022974-G-A",
        "id": "17-46022974-G-A",
        "variant": "17:46022974 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.46022974G>A?assembly=hg19",
        "id": "chr17:g.46022974G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.47945608G>A?assembly=hg38",
        "id": "chr17:g.47945608G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/764940495",
        "rs": 764940495
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-46022974-G-A?dataset=gnomad_r2_1",
        "id": "17-46022974-G-A",
        "variant": "17:46022974 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-47945608-G-A?dataset=gnomad_r3",
        "id": "17-47945608-G-A",
        "variant": "17:47945608 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-47945608-G-A?dataset=gnomad_r4",
        "id": "17-47945608-G-A",
        "variant": "17:47945608 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 47945608,
          "referenceAllele": "G",
          "start": 47945607
        }
      ],
      "hgvs": [
        "NC_000017.11:g.47945608G>A",
        "CM000679.2:g.47945608G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 46022974,
          "referenceAllele": "G",
          "start": 46022973
        }
      ],
      "hgvs": [
        "NC_000017.10:g.46022974G>A",
        "CM000679.1:g.46022974G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 43377973,
          "referenceAllele": "G",
          "start": 43377972
        }
      ],
      "hgvs": [
        "NC_000017.9:g.43377973G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9086,
          "referenceAllele": "G",
          "start": 9085
        }
      ],
      "hgvs": [
        "NG_008744.1:g.9086G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001196"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "referenceAllele": "G",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000225573.5:c.413G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225573.5:p.Arg138His",
        "hgvsWellDefined": "ENSP00000225573.5:p.Arg138His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740660"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 468,
          "endIntronDirection": "-",
          "endIntronOffset": 252,
          "referenceAllele": "G",
          "start": 468,
          "startIntronDirection": "-",
          "startIntronOffset": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000434554.7:c.364-253G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399960.3:n.364-253G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 368,
          "referenceAllele": "G",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000582171.6:c.*78G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463994.1:n.*78G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760920"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 381,
          "referenceAllele": "G",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000583245.6:n.381G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760943"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000583599.6:c.173G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463919.2:p.Arg58His",
        "hgvsWellDefined": "ENSP00000463919.2:p.Arg58His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 344,
          "referenceAllele": "G",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000584061.6:c.344G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463972.2:p.Arg115His",
        "hgvsWellDefined": "ENSP00000463972.2:p.Arg115His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 211,
          "referenceAllele": "G",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000584806.2:n.211G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760974"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 193,
          "referenceAllele": "G",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000641285.1:n.193G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765980"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1331,
          "referenceAllele": "G",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000641305.1:n.1331G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765993"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 779,
          "referenceAllele": "G",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000641323.1:c.*432G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492965.1:n.*432G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 413,
          "referenceAllele": "G",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000641427.1:n.413G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766075"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 278,
          "endIntronDirection": "-",
          "endIntronOffset": 714,
          "referenceAllele": "G",
          "start": 278,
          "startIntronDirection": "-",
          "startIntronOffset": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000641511.1:c.279-715G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766134"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 133,
          "endIntronDirection": "-",
          "endIntronOffset": 252,
          "referenceAllele": "G",
          "start": 133,
          "startIntronDirection": "-",
          "startIntronOffset": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000641703.1:c.134-253G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493219.1:n.134-253G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766278"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 528,
          "referenceAllele": "G",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000641709.1:c.*235G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493349.1:n.*235G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766281"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1220,
          "referenceAllele": "G",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000641856.1:c.*921G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493224.1:n.*921G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766390"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 518,
          "referenceAllele": "G",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000642017.2:c.413G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493302.2:p.Arg138His",
        "hgvsWellDefined": "ENSP00000493302.2:p.Arg138His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766503",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642017.2:c.413G>A"
          },
          "RefSeq": {
            "hgvs": "NM_018129.4:c.413G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493302.2:p.Arg138His"
          },
          "RefSeq": {
            "hgvs": "NP_060599.1:p.Arg138His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 518,
          "referenceAllele": "G",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000225573.4:c.413G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225573.4:p.Arg138His",
        "hgvsWellDefined": "ENSP00000225573.4:p.Arg138His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248500"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 518,
          "referenceAllele": "G",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000434554.6:c.413G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399960.2:p.Arg138His",
        "hgvsWellDefined": "ENSP00000399960.2:p.Arg138His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 339,
          "referenceAllele": "G",
          "start": 338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000582171.5:c.*78G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463994.1:n.*78G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387141"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000583245.5:c.*432G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463520.1:n.*432G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387662"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000583599.5:c.173G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463919.1:p.Arg58His",
        "hgvsWellDefined": "ENSP00000463919.1:p.Arg58His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 481,
          "referenceAllele": "G",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000584061.5:c.*235G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463972.1:n.*235G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388047"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 211,
          "referenceAllele": "G",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000584806.1:n.211G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388396"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 296,
          "endIntronDirection": "-",
          "endIntronOffset": 714,
          "referenceAllele": "G",
          "start": 296,
          "startIntronDirection": "-",
          "startIntronOffset": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "ENST00000585320.5:c.*29-715G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462345.1:n.*29-715G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388646"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139736708",
      "coordinates": [
        {
          "allele": "A",
          "end": 566,
          "referenceAllele": "G",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "NM_018129.3:c.413G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060599.1:p.Arg138His",
        "hgvsWellDefined": "NP_060599.1:p.Arg138His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035475"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "XM_005257500.2:c.173G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257557.1:p.Arg58His",
        "hgvsWellDefined": "XP_005257557.1:p.Arg58His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 339,
          "referenceAllele": "G",
          "start": 338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "XM_011524968.1:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523270.1:p.Arg43His",
        "hgvsWellDefined": "XP_011523270.1:p.Arg43His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "XM_005257500.3:c.173G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257557.1:p.Arg58His",
        "hgvsWellDefined": "XP_005257557.1:p.Arg58His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534668"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 339,
          "referenceAllele": "G",
          "start": 338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "XM_011524968.2:c.128G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523270.1:p.Arg43His",
        "hgvsWellDefined": "XP_011523270.1:p.Arg43His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 354,
          "referenceAllele": "G",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "XM_017024813.1:c.173G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880302.1:p.Arg58His",
        "hgvsWellDefined": "XP_016880302.1:p.Arg58His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139736708",
      "coordinates": [
        {
          "allele": "A",
          "end": 518,
          "referenceAllele": "G",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030260",
      "geneNCBI_id": 55163,
      "geneSymbol": "PNPO",
      "hgvs": [
        "NM_018129.4:c.413G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_060599.1:p.Arg138His",
        "hgvsWellDefined": "NP_060599.1:p.Arg138His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697964",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642017.2:c.413G>A"
          },
          "RefSeq": {
            "hgvs": "NM_018129.4:c.413G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493302.2:p.Arg138His"
          },
          "RefSeq": {
            "hgvs": "NP_060599.1:p.Arg138His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}