{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351756193",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.508G>T (p.Val170Phe)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10191515G>T?assembly=hg19",
        "id": "chr3:g.10191515G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10149831G>T?assembly=hg38",
        "id": "chr3:g.10149831G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1553620326",
        "rs": 1553620326
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 10149831,
          "referenceAllele": "G",
          "start": 10149830
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10149831G>T",
        "CM000665.2:g.10149831G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 10191515,
          "referenceAllele": "G",
          "start": 10191514
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10191515G>T",
        "CM000665.1:g.10191515G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 10166515,
          "referenceAllele": "G",
          "start": 10166514
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10166515G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13197,
          "referenceAllele": "G",
          "start": 13196
        }
      ],
      "hgvs": [
        "NG_008212.3:g.13197G>T",
        "LRG_322:g.13197G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 829,
          "referenceAllele": "G",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.*185G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:n.*185G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 644,
          "referenceAllele": "G",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.644G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:n.644G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 689,
          "referenceAllele": "G",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.619G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.Val207Phe",
        "hgvsWellDefined": "ENSP00000512444.1:p.Val207Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.508G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.Val170Phe",
        "hgvsWellDefined": "ENSP00000256474.3:p.Val170Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.508G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.508G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Val170Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Val170Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1348,
          "referenceAllele": "G",
          "start": 1347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.508G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Val170Phe",
        "hgvsWellDefined": "ENSP00000256474.2:p.Val170Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 445,
          "referenceAllele": "G",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.385G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:p.Val129Phe",
        "hgvsWellDefined": "ENSP00000344757.2:p.Val129Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 644,
          "referenceAllele": "G",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000477538.1:n.644G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318325"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109319",
      "coordinates": [
        {
          "allele": "T",
          "end": 721,
          "referenceAllele": "G",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.508G>T",
        "LRG_322t1:c.508G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Val170Phe",
        "hgvsWellDefined": "NP_000542.1:p.Val170Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 598,
          "referenceAllele": "G",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.385G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Val129Phe",
        "hgvsWellDefined": "NP_937799.1:p.Val129Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 857,
          "referenceAllele": "G",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.*62G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.*62G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109319",
      "coordinates": [
        {
          "allele": "T",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.508G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Val170Phe",
        "hgvsWellDefined": "NP_000542.1:p.Val170Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.508G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.508G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Val170Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Val170Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "G",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.*62G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.*62G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 455,
          "referenceAllele": "G",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.385G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Val129Phe",
        "hgvsWellDefined": "NP_937799.1:p.Val129Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}