{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA045620",
  "communityStandardTitle": [
    "NM_020975.6(RET):c.960C>A (p.Pro320=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=935023[alleleid]",
        "alleleId": 935023,
        "preferredName": "NM_020975.6(RET):c.960C>A (p.Pro320=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/937428",
        "RCV": [
          "RCV001206433",
          "RCV002256697",
          "RCV002484114"
        ],
        "variationId": 937428
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-43601916-C-A",
        "id": "10-43601916-C-A",
        "variant": "10:43601916 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.43601916C>A?assembly=hg19",
        "id": "chr10:g.43601916C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.43106468C>A?assembly=hg38",
        "id": "chr10:g.43106468C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/756761746",
        "rs": 756761746
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-43601916-C-A?dataset=gnomad_r2_1",
        "id": "10-43601916-C-A",
        "variant": "10:43601916 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-43106468-C-A?dataset=gnomad_r3",
        "id": "10-43106468-C-A",
        "variant": "10:43106468 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-43106468-C-A?dataset=gnomad_r4",
        "id": "10-43106468-C-A",
        "variant": "10:43106468 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 43106468,
          "referenceAllele": "C",
          "start": 43106467
        }
      ],
      "hgvs": [
        "NC_000010.11:g.43106468C>A",
        "CM000672.2:g.43106468C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 43601916,
          "referenceAllele": "C",
          "start": 43601915
        }
      ],
      "hgvs": [
        "NC_000010.10:g.43601916C>A",
        "CM000672.1:g.43601916C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 42921922,
          "referenceAllele": "C",
          "start": 42921921
        }
      ],
      "hgvs": [
        "NC_000010.9:g.42921922C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 34400,
          "referenceAllele": "C",
          "start": 34399
        }
      ],
      "hgvs": [
        "NG_007489.1:g.34400C>A",
        "LRG_518:g.34400C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000611"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1040,
          "endIntronDirection": "+",
          "endIntronOffset": 1275,
          "referenceAllele": "C",
          "start": 1040,
          "startIntronDirection": "+",
          "startIntronOffset": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.5:c.867+1275C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.2:n.867+1275C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 534,
          "referenceAllele": "C",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683007.1:n.534C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1150,
          "referenceAllele": "C",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.6:c.960C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Pro320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1150,
          "referenceAllele": "C",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.8:c.960C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Pro320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748710",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.960C>A"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.960C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Pro320="
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Pro320="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 820,
          "endIntronDirection": "+",
          "endIntronOffset": 3839,
          "referenceAllele": "C",
          "start": 820,
          "startIntronDirection": "+",
          "startIntronOffset": 3838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000671844.1:c.625+3839C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500541.1:n.625+3839C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 263,
          "endIntronDirection": "-",
          "endIntronOffset": 4738,
          "referenceAllele": "C",
          "start": 263,
          "startIntronDirection": "-",
          "startIntronOffset": 4739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000672389.1:c.74-4739C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500252.1:n.74-4739C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1140,
          "referenceAllele": "C",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.5:c.960C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Pro320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1192,
          "referenceAllele": "C",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.7:c.960C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Pro320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 555,
          "referenceAllele": "C",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000479913.1:n.555C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320185"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 258,
          "endIntronDirection": "-",
          "endIntronOffset": 5630,
          "referenceAllele": "C",
          "start": 258,
          "startIntronDirection": "-",
          "startIntronOffset": 5631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000498820.5:c.74-5631C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419080.1:n.74-5631C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247185"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1150,
          "referenceAllele": "C",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.4:c.960C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.1:p.Pro320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829940299",
      "coordinates": [
        {
          "allele": "A",
          "end": 1150,
          "referenceAllele": "C",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.4:c.960C>A",
        "LRG_518t2:c.960C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Pro320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829947375",
      "coordinates": [
        {
          "allele": "A",
          "end": 1150,
          "referenceAllele": "C",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.4:c.960C>A",
        "LRG_518t1:c.960C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Pro320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1192,
          "referenceAllele": "C",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "XM_011540027.1:c.960C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538329.1:p.Pro320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106977"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828046042",
      "coordinates": [
        {
          "allele": "A",
          "end": 555,
          "referenceAllele": "C",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_001355216.1:c.198C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001342145.1:p.Pro66="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522845"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829940299",
      "coordinates": [
        {
          "allele": "A",
          "end": 1192,
          "referenceAllele": "C",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.5:c.960C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Pro320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829947375",
      "coordinates": [
        {
          "allele": "A",
          "end": 1192,
          "referenceAllele": "C",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.5:c.960C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Pro320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829947375",
      "coordinates": [
        {
          "allele": "A",
          "end": 1150,
          "referenceAllele": "C",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.6:c.960C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Pro320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670171",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.960C>A"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.960C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Pro320="
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Pro320="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829940299",
      "coordinates": [
        {
          "allele": "A",
          "end": 1150,
          "referenceAllele": "C",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.6:c.960C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Pro320="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728447"
    }
  ],
  "type": "nucleotide"
}