{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA035077",
  "communityStandardTitle": [
    "NM_020975.6(RET):c.1686C>T (p.Thr562=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=525629[alleleid]",
        "alleleId": 525629,
        "preferredName": "NM_020975.6(RET):c.1686C>T (p.Thr562=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/543768",
        "RCV": [
          "RCV000654612",
          "RCV002397328",
          "RCV003237979"
        ],
        "variationId": 543768
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-43608338-C-T",
        "id": "10-43608338-C-T",
        "variant": "10:43608338 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.43608338C>T?assembly=hg19",
        "id": "chr10:g.43608338C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.43112890C>T?assembly=hg38",
        "id": "chr10:g.43112890C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/767502292",
        "rs": 767502292
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-43608338-C-T?dataset=gnomad_r2_1",
        "id": "10-43608338-C-T",
        "variant": "10:43608338 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-43112890-C-T?dataset=gnomad_r4",
        "id": "10-43112890-C-T",
        "variant": "10:43112890 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 43112890,
          "referenceAllele": "C",
          "start": 43112889
        }
      ],
      "hgvs": [
        "NC_000010.11:g.43112890C>T",
        "CM000672.2:g.43112890C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 43608338,
          "referenceAllele": "C",
          "start": 43608337
        }
      ],
      "hgvs": [
        "NC_000010.10:g.43608338C>T",
        "CM000672.1:g.43608338C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 42928344,
          "referenceAllele": "C",
          "start": 42928343
        }
      ],
      "hgvs": [
        "NC_000010.9:g.42928344C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 40822,
          "referenceAllele": "C",
          "start": 40821
        }
      ],
      "hgvs": [
        "NG_007489.1:g.40822C>T",
        "LRG_518:g.40822C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000611"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1463,
          "referenceAllele": "C",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.5:c.1290C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.2:p.Thr430="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826472"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1260,
          "referenceAllele": "C",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683007.1:n.1260C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683872.1:n.447C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1876,
          "referenceAllele": "C",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.6:c.1686C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Thr562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747868"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1876,
          "referenceAllele": "C",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.8:c.1686C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Thr562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748710",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.1686C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.1686C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Thr562="
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Thr562="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1243,
          "referenceAllele": "C",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000671844.1:c.*280C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500541.1:n.*280C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 686,
          "referenceAllele": "C",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000672389.1:c.*280C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500252.1:n.*280C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1866,
          "referenceAllele": "C",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.5:c.1686C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Thr562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1918,
          "referenceAllele": "C",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.7:c.1686C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Thr562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 422,
          "referenceAllele": "C",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000498820.5:c.237C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419080.1:p.Thr79="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1479,
          "endIntronDirection": "+",
          "endIntronOffset": 1658,
          "referenceAllele": "C",
          "start": 1479,
          "startIntronDirection": "+",
          "startIntronOffset": 1657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.4:c.1289+1658C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.1:n.1289+1658C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829941371",
      "coordinates": [
        {
          "allele": "T",
          "end": 1876,
          "referenceAllele": "C",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.4:c.1686C>T",
        "LRG_518t2:c.1686C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Thr562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829948317",
      "coordinates": [
        {
          "allele": "T",
          "end": 1876,
          "referenceAllele": "C",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.4:c.1686C>T",
        "LRG_518t1:c.1686C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Thr562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1918,
          "referenceAllele": "C",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "XM_011540027.1:c.1686C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538329.1:p.Thr562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106977"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828047307",
      "coordinates": [
        {
          "allele": "T",
          "end": 1281,
          "referenceAllele": "C",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_001355216.1:c.924C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001342145.1:p.Thr308="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522845"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829941371",
      "coordinates": [
        {
          "allele": "T",
          "end": 1918,
          "referenceAllele": "C",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.5:c.1686C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Thr562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829948317",
      "coordinates": [
        {
          "allele": "T",
          "end": 1918,
          "referenceAllele": "C",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.5:c.1686C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Thr562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829948317",
      "coordinates": [
        {
          "allele": "T",
          "end": 1876,
          "referenceAllele": "C",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.6:c.1686C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Thr562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670171",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.1686C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.1686C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Thr562="
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Thr562="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829941371",
      "coordinates": [
        {
          "allele": "T",
          "end": 1876,
          "referenceAllele": "C",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.6:c.1686C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Thr562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728447"
    }
  ],
  "type": "nucleotide"
}