{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351754405",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.460C>T (p.Pro154Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=473461[alleleid]",
        "alleleId": 473461,
        "preferredName": "NM_000551.4(VHL):c.460C>T (p.Pro154Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/486714",
        "RCV": [
          "RCV000566330",
          "RCV001046833",
          "RCV001420952",
          "RCV003465279"
        ],
        "variationId": 486714
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10188317C>T?assembly=hg19",
        "id": "chr3:g.10188317C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10146633C>T?assembly=hg38",
        "id": "chr3:g.10146633C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1553619993",
        "rs": 1553619993
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-10146633-C-T?dataset=gnomad_r4",
        "id": "3-10146633-C-T",
        "variant": "3:10146633 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 10146633,
          "referenceAllele": "C",
          "start": 10146632
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10146633C>T",
        "CM000665.2:g.10146633C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 10188317,
          "referenceAllele": "C",
          "start": 10188316
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10188317C>T",
        "CM000665.1:g.10188317C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 10163317,
          "referenceAllele": "C",
          "start": 10163316
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10163317C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9999,
          "referenceAllele": "C",
          "start": 9998
        }
      ],
      "hgvs": [
        "NG_008212.3:g.9999C>T",
        "LRG_322:g.9999C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 781,
          "referenceAllele": "C",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.*137C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:n.*137C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 599,
          "endIntronDirection": "-",
          "endIntronOffset": 3153,
          "referenceAllele": "C",
          "start": 599,
          "startIntronDirection": "-",
          "startIntronOffset": 3154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.600-3154C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:n.600-3154C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 530,
          "referenceAllele": "C",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.460C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.Pro154Ser",
        "hgvsWellDefined": "ENSP00000512444.1:p.Pro154Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 530,
          "referenceAllele": "C",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.460C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.Pro154Ser",
        "hgvsWellDefined": "ENSP00000256474.3:p.Pro154Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.460C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.460C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Pro154Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Pro154Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1300,
          "referenceAllele": "C",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.460C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Pro154Ser",
        "hgvsWellDefined": "ENSP00000256474.2:p.Pro154Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 400,
          "endIntronDirection": "-",
          "endIntronOffset": 3153,
          "referenceAllele": "C",
          "start": 400,
          "startIntronDirection": "-",
          "startIntronOffset": 3154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.341-3154C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:n.341-3154C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 596,
          "referenceAllele": "C",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000477538.1:n.596C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318325"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658669270",
      "coordinates": [
        {
          "allele": "T",
          "end": 673,
          "referenceAllele": "C",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.460C>T",
        "LRG_322t1:c.460C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Pro154Ser",
        "hgvsWellDefined": "NP_000542.1:p.Pro154Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 553,
          "endIntronDirection": "-",
          "endIntronOffset": 3153,
          "referenceAllele": "C",
          "start": 553,
          "startIntronDirection": "-",
          "startIntronOffset": 3154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.341-3154C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:n.341-3154C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 812,
          "endIntronDirection": "-",
          "endIntronOffset": 3153,
          "referenceAllele": "C",
          "start": 812,
          "startIntronDirection": "-",
          "startIntronOffset": 3154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.*18-3154C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.*18-3154C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658669270",
      "coordinates": [
        {
          "allele": "T",
          "end": 530,
          "referenceAllele": "C",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.460C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Pro154Ser",
        "hgvsWellDefined": "NP_000542.1:p.Pro154Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.460C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.460C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Pro154Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Pro154Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 669,
          "endIntronDirection": "-",
          "endIntronOffset": 3153,
          "referenceAllele": "C",
          "start": 669,
          "startIntronDirection": "-",
          "startIntronOffset": 3154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.*18-3154C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.*18-3154C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 410,
          "endIntronDirection": "-",
          "endIntronOffset": 3153,
          "referenceAllele": "C",
          "start": 410,
          "startIntronDirection": "-",
          "startIntronOffset": 3154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.341-3154C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:n.341-3154C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}