{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351747806",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.111G>T (p.Glu37Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3629639[alleleid]",
        "alleleId": 3629639,
        "preferredName": "NM_000551.4(VHL):c.111G>T (p.Glu37Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3468027",
        "RCV": [
          "RCV004950912"
        ],
        "variationId": 3468027
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10183642G>T?assembly=hg19",
        "id": "chr3:g.10183642G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10141958G>T?assembly=hg38",
        "id": "chr3:g.10141958G>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 10141958,
          "referenceAllele": "G",
          "start": 10141957
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10141958G>T",
        "CM000665.2:g.10141958G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 10183642,
          "referenceAllele": "G",
          "start": 10183641
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10183642G>T",
        "CM000665.1:g.10183642G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 10158642,
          "referenceAllele": "G",
          "start": 10158641
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10158642G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5324,
          "referenceAllele": "G",
          "start": 5323
        }
      ],
      "hgvs": [
        "NG_008212.3:g.5324G>T",
        "LRG_322:g.5324G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "referenceAllele": "G",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.111G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:p.Glu37Asp",
        "hgvsWellDefined": "ENSP00000512434.1:p.Glu37Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 111,
          "referenceAllele": "G",
          "start": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696143.1:c.111G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512435.1:p.Glu37Asp",
        "hgvsWellDefined": "ENSP00000512435.1:p.Glu37Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907618"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 181,
          "referenceAllele": "G",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.111G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:p.Glu37Asp",
        "hgvsWellDefined": "ENSP00000512444.1:p.Glu37Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 181,
          "referenceAllele": "G",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.111G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:p.Glu37Asp",
        "hgvsWellDefined": "ENSP00000256474.3:p.Glu37Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.111G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.111G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Glu37Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Glu37Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 951,
          "referenceAllele": "G",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.111G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:p.Glu37Asp",
        "hgvsWellDefined": "ENSP00000256474.2:p.Glu37Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 171,
          "referenceAllele": "G",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.111G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:p.Glu37Asp",
        "hgvsWellDefined": "ENSP00000344757.2:p.Glu37Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825190647",
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "referenceAllele": "G",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.111G>T",
        "LRG_322t1:c.111G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Glu37Asp",
        "hgvsWellDefined": "NP_000542.1:p.Glu37Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573101006",
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "referenceAllele": "G",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.111G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Glu37Asp",
        "hgvsWellDefined": "NP_937799.1:p.Glu37Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "referenceAllele": "G",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "XM_011534078.1:c.111G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532380.1:p.Glu37Asp",
        "hgvsWellDefined": "XP_011532380.1:p.Glu37Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101096"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827926602",
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "referenceAllele": "G",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.111G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Glu37Asp",
        "hgvsWellDefined": "NP_001341652.1:p.Glu37Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825190647",
      "coordinates": [
        {
          "allele": "T",
          "end": 181,
          "referenceAllele": "G",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.111G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:p.Glu37Asp",
        "hgvsWellDefined": "NP_000542.1:p.Glu37Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.111G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.111G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:p.Glu37Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:p.Glu37Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827926602",
      "coordinates": [
        {
          "allele": "T",
          "end": 181,
          "referenceAllele": "G",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.111G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:p.Glu37Asp",
        "hgvsWellDefined": "NP_001341652.1:p.Glu37Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573101006",
      "coordinates": [
        {
          "allele": "T",
          "end": 181,
          "referenceAllele": "G",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.111G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:p.Glu37Asp",
        "hgvsWellDefined": "NP_937799.1:p.Glu37Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}