{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA469027695",
  "communityStandardTitle": [
    "NM_020975.6(RET):c.1662C>T (p.Asn554=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=767740[alleleid]",
        "alleleId": 767740,
        "preferredName": "NM_020975.6(RET):c.1662C>T (p.Asn554=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/764504",
        "RCV": [
          "RCV001471130"
        ],
        "variationId": 764504
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.43608314C>T?assembly=hg19",
        "id": "chr10:g.43608314C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1253582681",
        "rs": 1253582681
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 43112866,
          "referenceAllele": "C",
          "start": 43112865
        }
      ],
      "hgvs": [
        "NC_000010.11:g.43112866C>T",
        "CM000672.2:g.43112866C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 43608314,
          "referenceAllele": "C",
          "start": 43608313
        }
      ],
      "hgvs": [
        "NC_000010.10:g.43608314C>T",
        "CM000672.1:g.43608314C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 42928320,
          "referenceAllele": "C",
          "start": 42928319
        }
      ],
      "hgvs": [
        "NC_000010.9:g.42928320C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 40798,
          "referenceAllele": "C",
          "start": 40797
        }
      ],
      "hgvs": [
        "NG_007489.1:g.40798C>T",
        "LRG_518:g.40798C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000611"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1439,
          "referenceAllele": "C",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.5:c.1266C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.2:p.Asn422="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826472"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1236,
          "referenceAllele": "C",
          "start": 1235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683007.1:n.1236C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 423,
          "referenceAllele": "C",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683872.1:n.423C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1852,
          "referenceAllele": "C",
          "start": 1851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.6:c.1662C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Asn554="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747868"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1852,
          "referenceAllele": "C",
          "start": 1851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.8:c.1662C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Asn554="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748710",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.1662C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.1662C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Asn554="
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Asn554="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1219,
          "referenceAllele": "C",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000671844.1:c.*256C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500541.1:n.*256C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 662,
          "referenceAllele": "C",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000672389.1:c.*256C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500252.1:n.*256C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1842,
          "referenceAllele": "C",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.5:c.1662C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Asn554="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1894,
          "referenceAllele": "C",
          "start": 1893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.7:c.1662C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Asn554="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 398,
          "referenceAllele": "C",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000498820.5:c.213C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419080.1:p.Asn71="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1479,
          "endIntronDirection": "+",
          "endIntronOffset": 1634,
          "referenceAllele": "C",
          "start": 1479,
          "startIntronDirection": "+",
          "startIntronOffset": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.4:c.1289+1634C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.1:n.1289+1634C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829941335",
      "coordinates": [
        {
          "allele": "T",
          "end": 1852,
          "referenceAllele": "C",
          "start": 1851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.4:c.1662C>T",
        "LRG_518t2:c.1662C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Asn554="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829948260",
      "coordinates": [
        {
          "allele": "T",
          "end": 1852,
          "referenceAllele": "C",
          "start": 1851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.4:c.1662C>T",
        "LRG_518t1:c.1662C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Asn554="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1894,
          "referenceAllele": "C",
          "start": 1893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "XM_011540027.1:c.1662C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538329.1:p.Asn554="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106977"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828047267",
      "coordinates": [
        {
          "allele": "T",
          "end": 1257,
          "referenceAllele": "C",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_001355216.1:c.900C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001342145.1:p.Asn300="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522845"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829941335",
      "coordinates": [
        {
          "allele": "T",
          "end": 1894,
          "referenceAllele": "C",
          "start": 1893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.5:c.1662C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Asn554="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829948260",
      "coordinates": [
        {
          "allele": "T",
          "end": 1894,
          "referenceAllele": "C",
          "start": 1893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.5:c.1662C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Asn554="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829948260",
      "coordinates": [
        {
          "allele": "T",
          "end": 1852,
          "referenceAllele": "C",
          "start": 1851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.6:c.1662C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Asn554="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670171",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.1662C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.1662C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Asn554="
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Asn554="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829941335",
      "coordinates": [
        {
          "allele": "T",
          "end": 1852,
          "referenceAllele": "C",
          "start": 1851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.6:c.1662C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Asn554="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728447"
    }
  ],
  "type": "nucleotide"
}