{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1628596498",
  "communityStandardTitle": [
    "NM_138694.4(PKHD1):c.3747T= (p.Cys1249=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/748540413",
        "rs": 748540413
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 52026063,
          "referenceAllele": "A",
          "start": 52026062
        }
      ],
      "hgvs": [
        "NC_000006.12:g.52026063A=",
        "CM000668.2:g.52026063A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 51890861,
          "referenceAllele": "A",
          "start": 51890860
        }
      ],
      "hgvs": [
        "NC_000006.11:g.51890861A=",
        "CM000668.1:g.51890861A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 51998820,
          "referenceAllele": "A",
          "start": 51998819
        }
      ],
      "hgvs": [
        "NC_000006.10:g.51998820A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 66563,
          "referenceAllele": "T",
          "start": 66562
        }
      ],
      "hgvs": [
        "NG_008753.1:g.66563T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001200"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4011,
          "referenceAllele": "T",
          "start": 4010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "ENST00000371117.8:c.3747T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360158.3:p.Cys1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750727",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371117.8:c.3747T="
          },
          "RefSeq": {
            "hgvs": "NM_138694.4:c.3747T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360158.3:p.Cys1249="
          },
          "RefSeq": {
            "hgvs": "NP_619639.3:p.Cys1249="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4008,
          "referenceAllele": "T",
          "start": 4007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "ENST00000340994.4:c.3747T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341097.4:p.Cys1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4023,
          "referenceAllele": "T",
          "start": 4022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "ENST00000371117.7:c.3747T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360158.3:p.Cys1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268422"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072159903",
      "coordinates": [
        {
          "allele": "T",
          "end": 4023,
          "referenceAllele": "T",
          "start": 4022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NM_138694.3:c.3747T="
      ],
      "proteinEffect": {
        "hgvs": "NP_619639.3:p.Cys1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040823"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4023,
          "referenceAllele": "T",
          "start": 4022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NM_170724.2:c.3747T="
      ],
      "proteinEffect": {
        "hgvs": "NP_733842.2:p.Cys1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3847,
          "referenceAllele": "T",
          "start": 3846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514679.1:c.3747T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512981.1:p.Cys1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081904"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3859,
          "referenceAllele": "T",
          "start": 3858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514680.1:c.3747T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512982.1:p.Cys1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081905"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3998,
          "referenceAllele": "T",
          "start": 3997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514681.1:c.3747T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512983.1:p.Cys1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3998,
          "referenceAllele": "T",
          "start": 3997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514682.1:c.3747T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512984.1:p.Cys1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3998,
          "referenceAllele": "T",
          "start": 3997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514683.1:c.3747T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512985.1:p.Cys1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3120,
          "referenceAllele": "T",
          "start": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514684.1:c.3036T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512986.1:p.Cys1012="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081909"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4023,
          "referenceAllele": "T",
          "start": 4022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514685.1:c.3747T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512987.1:p.Cys1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4023,
          "referenceAllele": "T",
          "start": 4022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514686.1:c.3747T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512988.1:p.Cys1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081911"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4023,
          "referenceAllele": "T",
          "start": 4022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514687.1:c.3747T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512989.1:p.Cys1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3998,
          "referenceAllele": "T",
          "start": 3997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514688.1:c.3747T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512990.1:p.Cys1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3998,
          "referenceAllele": "T",
          "start": 3997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514689.1:c.3747T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512991.1:p.Cys1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081914"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4367,
          "referenceAllele": "T",
          "start": 4366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514680.3:c.3747T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512982.1:p.Cys1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3989,
          "referenceAllele": "T",
          "start": 3988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514682.3:c.3747T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512984.1:p.Cys1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3989,
          "referenceAllele": "T",
          "start": 3988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514683.3:c.3747T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512985.1:p.Cys1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3133,
          "referenceAllele": "T",
          "start": 3132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514684.3:c.3036T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512986.1:p.Cys1012="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543426"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4023,
          "referenceAllele": "T",
          "start": 4022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514686.2:c.3747T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512988.1:p.Cys1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543427"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3989,
          "referenceAllele": "T",
          "start": 3988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514688.2:c.3747T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512990.1:p.Cys1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543428"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3849,
          "referenceAllele": "T",
          "start": 3848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010944.2:c.3747T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016866433.1:p.Cys1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3914,
          "referenceAllele": "T",
          "start": 3913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010945.2:c.3672T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016866434.1:p.Cys1224="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3989,
          "referenceAllele": "T",
          "start": 3988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010946.2:c.3747T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016866435.1:p.Cys1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564899"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3725,
          "referenceAllele": "T",
          "start": 3724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010947.2:c.3483T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016866436.1:p.Cys1161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3807,
          "referenceAllele": "T",
          "start": 3806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010948.2:c.3036T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016866437.1:p.Cys1012="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2986,
          "referenceAllele": "T",
          "start": 2985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010949.2:c.1887T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016866438.1:p.Cys629="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564902"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4023,
          "referenceAllele": "T",
          "start": 4022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010950.1:c.3747T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016866439.1:p.Cys1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564903"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3989,
          "referenceAllele": "T",
          "start": 3988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010951.1:c.3747T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016866440.1:p.Cys1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564904"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3989,
          "referenceAllele": "T",
          "start": 3988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010952.1:c.3747T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016866441.1:p.Cys1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564905"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4023,
          "referenceAllele": "T",
          "start": 4022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XR_001743469.1:n.4023T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592682"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072159903",
      "coordinates": [
        {
          "allele": "T",
          "end": 4011,
          "referenceAllele": "T",
          "start": 4010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NM_138694.4:c.3747T="
      ],
      "proteinEffect": {
        "hgvs": "NP_619639.3:p.Cys1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371117.8:c.3747T="
          },
          "RefSeq": {
            "hgvs": "NM_138694.4:c.3747T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360158.3:p.Cys1249="
          },
          "RefSeq": {
            "hgvs": "NP_619639.3:p.Cys1249="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4011,
          "referenceAllele": "T",
          "start": 4010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NM_170724.3:c.3747T="
      ],
      "proteinEffect": {
        "hgvs": "NP_733842.2:p.Cys1249="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700451"
    }
  ],
  "type": "nucleotide"
}