{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA040676",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.373C>T (p.His125Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=393216[alleleid]",
        "alleleId": 393216,
        "preferredName": "NM_000551.4(VHL):c.373C>T (p.His125Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/411970",
        "RCV": [
          "RCV000462284",
          "RCV000479517",
          "RCV000708764",
          "RCV002272247",
          "RCV002489086"
        ],
        "variationId": 411970
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-10188230-C-T",
        "id": "3-10188230-C-T",
        "variant": "3:10188230 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10188230C>T?assembly=hg19",
        "id": "chr3:g.10188230C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10146546C>T?assembly=hg38",
        "id": "chr3:g.10146546C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/375401722",
        "rs": 375401722
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-10188230-C-T?dataset=gnomad_r2_1",
        "id": "3-10188230-C-T",
        "variant": "3:10188230 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-10146546-C-T?dataset=gnomad_r3",
        "id": "3-10146546-C-T",
        "variant": "3:10146546 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-10146546-C-T?dataset=gnomad_r4",
        "id": "3-10146546-C-T",
        "variant": "3:10146546 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 10146546,
          "referenceAllele": "C",
          "start": 10146545
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10146546C>T",
        "CM000665.2:g.10146546C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 10188230,
          "referenceAllele": "C",
          "start": 10188229
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10188230C>T",
        "CM000665.1:g.10188230C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 10163230,
          "referenceAllele": "C",
          "start": 10163229
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10163230C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9912,
          "referenceAllele": "C",
          "start": 9911
        }
      ],
      "hgvs": [
        "NG_008212.3:g.9912C>T",
        "LRG_322:g.9912C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "referenceAllele": "C",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.*50C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:n.*50C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 599,
          "endIntronDirection": "-",
          "endIntronOffset": 3240,
          "referenceAllele": "C",
          "start": 599,
          "startIntronDirection": "-",
          "startIntronOffset": 3241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.600-3241C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:n.600-3241C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 443,
          "referenceAllele": "C",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.His125Tyr",
        "hgvsWellDefined": "ENSP00000512444.1:p.His125Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 443,
          "referenceAllele": "C",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.His125Tyr",
        "hgvsWellDefined": "ENSP00000256474.3:p.His125Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.373C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.373C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.His125Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.His125Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1213,
          "referenceAllele": "C",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.His125Tyr",
        "hgvsWellDefined": "ENSP00000256474.2:p.His125Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 400,
          "endIntronDirection": "-",
          "endIntronOffset": 3240,
          "referenceAllele": "C",
          "start": 400,
          "startIntronDirection": "-",
          "startIntronOffset": 3241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.341-3241C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:n.341-3241C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 509,
          "referenceAllele": "C",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000477538.1:n.509C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318325"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645462961",
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.373C>T",
        "LRG_322t1:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.His125Tyr",
        "hgvsWellDefined": "NP_000542.1:p.His125Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 553,
          "endIntronDirection": "-",
          "endIntronOffset": 3240,
          "referenceAllele": "C",
          "start": 553,
          "startIntronDirection": "-",
          "startIntronOffset": 3241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.341-3241C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:n.341-3241C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 717,
          "referenceAllele": "C",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "XM_011534078.1:c.*50C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532380.1:n.*50C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 812,
          "endIntronDirection": "-",
          "endIntronOffset": 3240,
          "referenceAllele": "C",
          "start": 812,
          "startIntronDirection": "-",
          "startIntronOffset": 3241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.*18-3241C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.*18-3241C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645462961",
      "coordinates": [
        {
          "allele": "T",
          "end": 443,
          "referenceAllele": "C",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.His125Tyr",
        "hgvsWellDefined": "NP_000542.1:p.His125Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.373C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.373C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.His125Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.His125Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 669,
          "endIntronDirection": "-",
          "endIntronOffset": 3240,
          "referenceAllele": "C",
          "start": 669,
          "startIntronDirection": "-",
          "startIntronOffset": 3241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.*18-3241C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.*18-3241C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 410,
          "endIntronDirection": "-",
          "endIntronOffset": 3240,
          "referenceAllele": "C",
          "start": 410,
          "startIntronDirection": "-",
          "startIntronOffset": 3241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.341-3241C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:n.341-3241C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}