{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA376552871",
  "communityStandardTitle": [
    "NM_020975.6(RET):c.1879+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=654156[alleleid]",
        "alleleId": 654156,
        "preferredName": "NM_020975.6(RET):c.1879+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/666595",
        "RCV": [
          "RCV000825021",
          "RCV003532285",
          "RCV003141864"
        ],
        "variationId": 666595
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.43609124G>A?assembly=hg19",
        "id": "chr10:g.43609124G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.43113676G>A?assembly=hg38",
        "id": "chr10:g.43113676G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1588873476",
        "rs": 1588873476
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 43113676,
          "referenceAllele": "G",
          "start": 43113675
        }
      ],
      "hgvs": [
        "NC_000010.11:g.43113676G>A",
        "CM000672.2:g.43113676G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 43609124,
          "referenceAllele": "G",
          "start": 43609123
        }
      ],
      "hgvs": [
        "NC_000010.10:g.43609124G>A",
        "CM000672.1:g.43609124G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 42929130,
          "referenceAllele": "G",
          "start": 42929129
        }
      ],
      "hgvs": [
        "NC_000010.9:g.42929130G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 41608,
          "referenceAllele": "G",
          "start": 41607
        }
      ],
      "hgvs": [
        "NG_007489.1:g.41608G>A",
        "LRG_518:g.41608G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000611"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1656,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1656,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.5:c.1483+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.2:n.1483+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1453,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1453,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683007.1:n.1453+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 641,
          "referenceAllele": "G",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683872.1:n.641G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828839"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2069,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2069,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.6:c.1879+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:n.1879+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2069,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2069,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.8:c.1879+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:n.1879+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748710",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.1879+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.1879+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:n.1879+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:n.1879+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1436,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1436,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000671844.1:c.*473+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500541.1:n.*473+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 879,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 879,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000672389.1:c.*473+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500252.1:n.*473+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2059,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2059,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.5:c.1879+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:n.1879+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2111,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2111,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.7:c.1879+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:n.1879+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 615,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 615,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000498820.5:c.430+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419080.1:n.430+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247185"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1479,
          "endIntronDirection": "+",
          "endIntronOffset": 2444,
          "referenceAllele": "G",
          "start": 1479,
          "startIntronDirection": "+",
          "startIntronOffset": 2443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.4:c.1289+2444G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.1:n.1289+2444G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2069,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2069,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.4:c.1879+1G>A",
        "LRG_518t2:c.1879+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:n.1879+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036456"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2069,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2069,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.4:c.1879+1G>A",
        "LRG_518t1:c.1879+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:n.1879+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2111,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2111,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "XM_011540027.1:c.1879+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538329.1:n.1879+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106977"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1474,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1474,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_001355216.1:c.1117+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001342145.1:n.1117+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2111,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2111,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.5:c.1879+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:n.1879+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2111,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2111,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.5:c.1879+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:n.1879+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526025"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2069,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2069,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.6:c.1879+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:n.1879+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670171",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.1879+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.1879+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:n.1879+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:n.1879+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2069,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2069,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.6:c.1879+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:n.1879+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728447"
    }
  ],
  "type": "nucleotide"
}