{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1846866339",
  "communityStandardTitle": [
    "NM_012203.2(GRHPR):c.295C= (p.Arg99=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/119490108",
        "rs": 119490108
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 37426545,
          "referenceAllele": "C",
          "start": 37426544
        }
      ],
      "hgvs": [
        "NC_000009.12:g.37426545C=",
        "CM000671.2:g.37426545C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 37426542,
          "referenceAllele": "C",
          "start": 37426541
        }
      ],
      "hgvs": [
        "NC_000009.11:g.37426542C=",
        "CM000671.1:g.37426542C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 37416542,
          "referenceAllele": "C",
          "start": 37416541
        }
      ],
      "hgvs": [
        "NC_000009.10:g.37416542C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8836,
          "referenceAllele": "C",
          "start": 8835
        }
      ],
      "hgvs": [
        "NG_008135.1:g.8836C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000881"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 350,
          "referenceAllele": "C",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000318158.11:c.295C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313432.6:p.Arg99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318158.11:c.295C="
          },
          "RefSeq": {
            "hgvs": "NM_012203.2:c.295C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313432.6:p.Arg99="
          },
          "RefSeq": {
            "hgvs": "NP_036335.1:p.Arg99="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 380,
          "referenceAllele": "C",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000318158.10:c.295C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313432.6:p.Arg99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257492"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 332,
          "referenceAllele": "C",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000377824.8:n.332C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS271754"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 322,
          "referenceAllele": "C",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000460882.5:n.322C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305526"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 847,
          "referenceAllele": "C",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000487399.5:n.847C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325976"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 109,
          "endIntronDirection": "-",
          "endIntronOffset": 1938,
          "referenceAllele": "C",
          "start": 109,
          "startIntronDirection": "-",
          "startIntronOffset": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000491488.5:n.110-1939C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329080"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 352,
          "referenceAllele": "C",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000493368.5:n.352C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 300,
          "referenceAllele": "C",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "ENST00000607784.1:c.295C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475569.1:p.Arg99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS399944"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075625916",
      "coordinates": [
        {
          "allele": "C",
          "end": 336,
          "referenceAllele": "C",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "NM_012203.1:c.295C="
      ],
      "proteinEffect": {
        "hgvs": "NP_036335.1:p.Arg99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032392"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 138,
          "endIntronDirection": "-",
          "endIntronOffset": 1938,
          "referenceAllele": "C",
          "start": 138,
          "startIntronDirection": "-",
          "startIntronOffset": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_005251631.1:c.84-1939C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005251688.1:n.84-1939C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059608"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 326,
          "referenceAllele": "C",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_011518073.1:c.-468C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516375.1:n.-468C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085252"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 380,
          "referenceAllele": "C",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_929374.1:n.380C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125523"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 351,
          "referenceAllele": "C",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_017015320.2:c.295C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016870809.1:p.Arg99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568069"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 351,
          "referenceAllele": "C",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_017015321.2:c.295C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016870810.1:p.Arg99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568070"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 351,
          "referenceAllele": "C",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_017015323.2:c.-468C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016870812.1:n.-468C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568071"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 583,
          "referenceAllele": "C",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_024447716.1:c.568C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024303484.1:p.Arg190="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581297"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 583,
          "referenceAllele": "C",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XM_024447717.1:c.568C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024303485.1:p.Arg190="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581298"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 583,
          "referenceAllele": "C",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956828.1:n.583C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602966"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 583,
          "referenceAllele": "C",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956829.1:n.583C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602967"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 354,
          "referenceAllele": "C",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956830.1:n.354C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602968"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 138,
          "endIntronDirection": "-",
          "endIntronOffset": 1938,
          "referenceAllele": "C",
          "start": 138,
          "startIntronDirection": "-",
          "startIntronOffset": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956831.1:n.139-1939C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602969"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 354,
          "referenceAllele": "C",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "XR_002956832.1:n.354C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602970"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075625916",
      "coordinates": [
        {
          "allele": "C",
          "end": 350,
          "referenceAllele": "C",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004570",
      "geneNCBI_id": 9380,
      "geneSymbol": "GRHPR",
      "hgvs": [
        "NM_012203.2:c.295C="
      ],
      "proteinEffect": {
        "hgvs": "NP_036335.1:p.Arg99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667943",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318158.11:c.295C="
          },
          "RefSeq": {
            "hgvs": "NM_012203.2:c.295C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313432.6:p.Arg99="
          },
          "RefSeq": {
            "hgvs": "NP_036335.1:p.Arg99="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}