{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1905813458",
  "communityStandardTitle": [
    "NM_020975.6(RET):c.1889G= (p.Cys630=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/377767405",
        "rs": 377767405
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 43114489,
          "referenceAllele": "G",
          "start": 43114488
        }
      ],
      "hgvs": [
        "NC_000010.11:g.43114489G=",
        "CM000672.2:g.43114489G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 43609937,
          "referenceAllele": "G",
          "start": 43609936
        }
      ],
      "hgvs": [
        "NC_000010.10:g.43609937G=",
        "CM000672.1:g.43609937G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 42929943,
          "referenceAllele": "G",
          "start": 42929942
        }
      ],
      "hgvs": [
        "NC_000010.9:g.42929943G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 42421,
          "referenceAllele": "G",
          "start": 42420
        }
      ],
      "hgvs": [
        "NG_007489.1:g.42421G=",
        "LRG_518:g.42421G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000611"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1666,
          "referenceAllele": "G",
          "start": 1665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.5:c.1493G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.2:p.Cys498="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826472"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1463,
          "referenceAllele": "G",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683007.1:n.1463G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827994"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1454,
          "referenceAllele": "G",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683872.1:n.1454G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828839"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2079,
          "referenceAllele": "G",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.6:c.1889G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Cys630="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747868"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2079,
          "referenceAllele": "G",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.8:c.1889G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Cys630="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748710",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.1889G="
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.1889G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Cys630="
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Cys630="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1446,
          "referenceAllele": "G",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000671844.1:c.*483G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500541.1:n.*483G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 889,
          "referenceAllele": "G",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000672389.1:c.*483G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500252.1:n.*483G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773367"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2069,
          "referenceAllele": "G",
          "start": 2068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.5:c.1889G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Cys630="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247408"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2121,
          "referenceAllele": "G",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.7:c.1889G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Cys630="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247251"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 625,
          "referenceAllele": "G",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000498820.5:c.440G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419080.1:p.Cys147="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247185"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1479,
          "endIntronDirection": "+",
          "endIntronOffset": 3257,
          "referenceAllele": "G",
          "start": 1479,
          "startIntronDirection": "+",
          "startIntronOffset": 3256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.4:c.1289+3257G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.1:n.1289+3257G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829941597",
      "coordinates": [
        {
          "allele": "G",
          "end": 2079,
          "referenceAllele": "G",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.4:c.1889G=",
        "LRG_518t2:c.1889G="
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Cys630="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829948570",
      "coordinates": [
        {
          "allele": "G",
          "end": 2079,
          "referenceAllele": "G",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.4:c.1889G=",
        "LRG_518t1:c.1889G="
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Cys630="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2121,
          "referenceAllele": "G",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "XM_011540027.1:c.1889G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011538329.1:p.Cys630="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106977"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828047597",
      "coordinates": [
        {
          "allele": "G",
          "end": 1484,
          "referenceAllele": "G",
          "start": 1483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_001355216.1:c.1127G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001342145.1:p.Cys376="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522845"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829941597",
      "coordinates": [
        {
          "allele": "G",
          "end": 2121,
          "referenceAllele": "G",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.5:c.1889G="
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Cys630="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829948570",
      "coordinates": [
        {
          "allele": "G",
          "end": 2121,
          "referenceAllele": "G",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.5:c.1889G="
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Cys630="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829948570",
      "coordinates": [
        {
          "allele": "G",
          "end": 2079,
          "referenceAllele": "G",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.6:c.1889G="
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Cys630="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670171",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.1889G="
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.1889G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Cys630="
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Cys630="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829941597",
      "coordinates": [
        {
          "allele": "G",
          "end": 2079,
          "referenceAllele": "G",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.6:c.1889G="
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Cys630="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728447"
    }
  ],
  "type": "nucleotide"
}