{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA123423",
  "communityStandardTitle": [
    "NM_000316.3(PTH1R):c.1148G>A (p.Arg383Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6164988",
        "active": true,
        "id": "COSM6164988"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28783[alleleid]",
        "alleleId": 28783,
        "preferredName": "NM_000316.3(PTH1R):c.1148G>A (p.Arg383Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13744",
        "RCV": [
          "RCV000014751",
          "RCV002513054"
        ],
        "variationId": 13744
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.46943287G>A?assembly=hg19",
        "id": "chr3:g.46943287G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.46901797G>A?assembly=hg38",
        "id": "chr3:g.46901797G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/398122843",
        "rs": 398122843
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-46943287-G-A?dataset=gnomad_r2_1",
        "id": "3-46943287-G-A",
        "variant": "3:46943287 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-46901797-G-A?dataset=gnomad_r3",
        "id": "3-46901797-G-A",
        "variant": "3:46901797 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-46901797-G-A?dataset=gnomad_r4",
        "id": "3-46901797-G-A",
        "variant": "3:46901797 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 46901797,
          "referenceAllele": "G",
          "start": 46901796
        }
      ],
      "hgvs": [
        "NC_000003.12:g.46901797G>A",
        "CM000665.2:g.46901797G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 46943287,
          "referenceAllele": "G",
          "start": 46943286
        }
      ],
      "hgvs": [
        "NC_000003.11:g.46943287G>A",
        "CM000665.1:g.46943287G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 46918291,
          "referenceAllele": "G",
          "start": 46918290
        }
      ],
      "hgvs": [
        "NC_000003.10:g.46918291G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 29052,
          "referenceAllele": "G",
          "start": 29051
        }
      ],
      "hgvs": [
        "NG_008864.1:g.29052G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001259"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1376,
          "referenceAllele": "G",
          "start": 1375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009608",
      "geneNCBI_id": 5745,
      "geneSymbol": "PTH1R",
      "hgvs": [
        "ENST00000449590.6:c.1148G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402723.1:p.Arg383Gln",
        "hgvsWellDefined": "ENSP00000402723.1:p.Arg383Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756238",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000449590.6:c.1148G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000316.3:c.1148G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000402723.1:p.Arg383Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000307.1:p.Arg383Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1351,
          "referenceAllele": "G",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009608",
      "geneNCBI_id": 5745,
      "geneSymbol": "PTH1R",
      "hgvs": [
        "ENST00000313049.9:c.1148G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000321999.4:p.Arg383Gln",
        "hgvsWellDefined": "ENSP00000321999.4:p.Arg383Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256758"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1297,
          "referenceAllele": "G",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009608",
      "geneNCBI_id": 5745,
      "geneSymbol": "PTH1R",
      "hgvs": [
        "ENST00000418619.5:c.1148G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411424.1:p.Arg383Gln",
        "hgvsWellDefined": "ENSP00000411424.1:p.Arg383Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285487"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1481,
          "referenceAllele": "G",
          "start": 1480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009608",
      "geneNCBI_id": 5745,
      "geneSymbol": "PTH1R",
      "hgvs": [
        "ENST00000427125.6:c.1148G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400977.2:p.Arg383Gln",
        "hgvsWellDefined": "ENSP00000400977.2:p.Arg383Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1290,
          "referenceAllele": "G",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009608",
      "geneNCBI_id": 5745,
      "geneSymbol": "PTH1R",
      "hgvs": [
        "ENST00000428220.1:c.*85G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389811.1:n.*85G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1214,
          "referenceAllele": "G",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009608",
      "geneNCBI_id": 5745,
      "geneSymbol": "PTH1R",
      "hgvs": [
        "ENST00000430002.6:c.1148G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413774.2:p.Arg383Gln",
        "hgvsWellDefined": "ENSP00000413774.2:p.Arg383Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1351,
          "referenceAllele": "G",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009608",
      "geneNCBI_id": 5745,
      "geneSymbol": "PTH1R",
      "hgvs": [
        "ENST00000449590.5:c.1148G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402723.1:p.Arg383Gln",
        "hgvsWellDefined": "ENSP00000402723.1:p.Arg383Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300290"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123424",
      "coordinates": [
        {
          "allele": "A",
          "end": 1351,
          "referenceAllele": "G",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009608",
      "geneNCBI_id": 5745,
      "geneSymbol": "PTH1R",
      "hgvs": [
        "NM_000316.2:c.1148G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000307.1:p.Arg383Gln",
        "hgvsWellDefined": "NP_000307.1:p.Arg383Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006380"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915995807",
      "coordinates": [
        {
          "allele": "A",
          "end": 1214,
          "referenceAllele": "G",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009608",
      "geneNCBI_id": 5745,
      "geneSymbol": "PTH1R",
      "hgvs": [
        "NM_001184744.1:c.1148G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171673.1:p.Arg383Gln",
        "hgvsWellDefined": "NP_001171673.1:p.Arg383Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015949"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1168,
          "referenceAllele": "G",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009608",
      "geneNCBI_id": 5745,
      "geneSymbol": "PTH1R",
      "hgvs": [
        "XM_005265344.2:c.1055G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265401.1:p.Arg352Gln",
        "hgvsWellDefined": "XP_005265401.1:p.Arg352Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064588"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1419,
          "referenceAllele": "G",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009608",
      "geneNCBI_id": 5745,
      "geneSymbol": "PTH1R",
      "hgvs": [
        "XM_011533967.1:c.1187G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532269.1:p.Arg396Gln",
        "hgvsWellDefined": "XP_011532269.1:p.Arg396Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100985"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1290,
          "referenceAllele": "G",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009608",
      "geneNCBI_id": 5745,
      "geneSymbol": "PTH1R",
      "hgvs": [
        "XM_011533968.1:c.1169G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532270.1:p.Arg390Gln",
        "hgvsWellDefined": "XP_011532270.1:p.Arg390Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100986"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3148,
          "referenceAllele": "G",
          "start": 3147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009608",
      "geneNCBI_id": 5745,
      "geneSymbol": "PTH1R",
      "hgvs": [
        "XM_005265344.3:c.1055G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265401.1:p.Arg352Gln",
        "hgvsWellDefined": "XP_005265401.1:p.Arg352Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1447,
          "referenceAllele": "G",
          "start": 1446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009608",
      "geneNCBI_id": 5745,
      "geneSymbol": "PTH1R",
      "hgvs": [
        "XM_011533967.3:c.1187G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532269.1:p.Arg396Gln",
        "hgvsWellDefined": "XP_011532269.1:p.Arg396Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551445"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1293,
          "referenceAllele": "G",
          "start": 1292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009608",
      "geneNCBI_id": 5745,
      "geneSymbol": "PTH1R",
      "hgvs": [
        "XM_011533968.2:c.1169G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532270.1:p.Arg390Gln",
        "hgvsWellDefined": "XP_011532270.1:p.Arg390Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551446"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1399,
          "referenceAllele": "G",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009608",
      "geneNCBI_id": 5745,
      "geneSymbol": "PTH1R",
      "hgvs": [
        "XM_017006932.2:c.1187G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862421.1:p.Arg396Gln",
        "hgvsWellDefined": "XP_016862421.1:p.Arg396Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561821"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1500,
          "referenceAllele": "G",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009608",
      "geneNCBI_id": 5745,
      "geneSymbol": "PTH1R",
      "hgvs": [
        "XM_017006933.1:c.1148G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862422.1:p.Arg383Gln",
        "hgvsWellDefined": "XP_016862422.1:p.Arg383Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561822"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1416,
          "referenceAllele": "G",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009608",
      "geneNCBI_id": 5745,
      "geneSymbol": "PTH1R",
      "hgvs": [
        "XM_017006934.1:c.1187G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016862423.1:p.Arg396Gln",
        "hgvsWellDefined": "XP_016862423.1:p.Arg396Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561823"
    },
    {
      "@id": "http://reg.genome.network/allele/PA123424",
      "coordinates": [
        {
          "allele": "A",
          "end": 1376,
          "referenceAllele": "G",
          "start": 1375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009608",
      "geneNCBI_id": 5745,
      "geneSymbol": "PTH1R",
      "hgvs": [
        "NM_000316.3:c.1148G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000307.1:p.Arg383Gln",
        "hgvsWellDefined": "NP_000307.1:p.Arg383Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662399",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000449590.6:c.1148G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000316.3:c.1148G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000402723.1:p.Arg383Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000307.1:p.Arg383Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}