{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA020304",
  "communityStandardTitle": [
    "NM_000551.4(VHL):c.-35G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=141607[alleleid]",
        "alleleId": 141607,
        "preferredName": "NM_000551.4(VHL):c.-35G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/137904",
        "RCV": [
          "RCV000126299",
          "RCV000679009",
          "RCV001148530"
        ],
        "variationId": 137904
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10183497G>A?assembly=hg19",
        "id": "chr3:g.10183497G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.10141813G>A?assembly=hg38",
        "id": "chr3:g.10141813G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587780992",
        "rs": 587780992
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-10183497-G-A?dataset=gnomad_r2_1",
        "id": "3-10183497-G-A",
        "variant": "3:10183497 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-10141813-G-A?dataset=gnomad_r3",
        "id": "3-10141813-G-A",
        "variant": "3:10141813 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-10141813-G-A?dataset=gnomad_r4",
        "id": "3-10141813-G-A",
        "variant": "3:10141813 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 10141813,
          "referenceAllele": "G",
          "start": 10141812
        }
      ],
      "hgvs": [
        "NC_000003.12:g.10141813G>A",
        "CM000665.2:g.10141813G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 10183497,
          "referenceAllele": "G",
          "start": 10183496
        }
      ],
      "hgvs": [
        "NC_000003.11:g.10183497G>A",
        "CM000665.1:g.10183497G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 10158497,
          "referenceAllele": "G",
          "start": 10158496
        }
      ],
      "hgvs": [
        "NC_000003.10:g.10158497G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5179,
          "referenceAllele": "G",
          "start": 5178
        }
      ],
      "hgvs": [
        "NG_008212.3:g.5179G>A",
        "LRG_322:g.5179G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000953"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 28,
          "referenceAllele": "G",
          "start": 27
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696142.1:c.-35G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512434.1:n.-35G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 36,
          "referenceAllele": "G",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000696153.1:c.-35G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512444.1:n.-35G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907628"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 36,
          "referenceAllele": "G",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.3:c.-35G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.3:n.-35G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.-35G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.-35G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:n.-35G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:n.-35G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 806,
          "referenceAllele": "G",
          "start": 805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000256474.2:c.-35G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256474.2:n.-35G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247202"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 26,
          "referenceAllele": "G",
          "start": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "ENST00000345392.2:c.-35G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344757.2:n.-35G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 179,
          "referenceAllele": "G",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.3:c.-35G>A",
        "LRG_322t1:c.-35G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:n.-35G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006610"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 179,
          "referenceAllele": "G",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.2:c.-35G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:n.-35G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044445"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 51,
          "referenceAllele": "G",
          "start": 50
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "XM_011534078.1:c.-35G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532380.1:n.-35G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101096"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 179,
          "referenceAllele": "G",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.1:c.-35G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.-35G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522641"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 36,
          "referenceAllele": "G",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_000551.4:c.-35G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000542.1:n.-35G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674889",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256474.3:c.-35G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000551.4:c.-35G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256474.3:n.-35G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000542.1:n.-35G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 36,
          "referenceAllele": "G",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_001354723.2:c.-35G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341652.1:n.-35G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 36,
          "referenceAllele": "G",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012687",
      "geneNCBI_id": 7428,
      "geneSymbol": "VHL",
      "hgvs": [
        "NM_198156.3:c.-35G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937799.1:n.-35G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701262"
    }
  ],
  "type": "nucleotide"
}