{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA376558032",
  "communityStandardTitle": [
    "NM_020975.6(RET):c.2944C>A (p.Arg982Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3229908[alleleid]",
        "alleleId": 3229908,
        "preferredName": "NM_020975.6(RET):c.2944C>A (p.Arg982Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3069281",
        "RCV": [
          "RCV004007825"
        ],
        "variationId": 3069281
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.43620335C>A?assembly=hg19",
        "id": "chr10:g.43620335C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.43124887C>A?assembly=hg38",
        "id": "chr10:g.43124887C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/17158558",
        "rs": 17158558
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-43124887-C-A?dataset=gnomad_r4",
        "id": "10-43124887-C-A",
        "variant": "10:43124887 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 43124887,
          "referenceAllele": "C",
          "start": 43124886
        }
      ],
      "hgvs": [
        "NC_000010.11:g.43124887C>A",
        "CM000672.2:g.43124887C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 43620335,
          "referenceAllele": "C",
          "start": 43620334
        }
      ],
      "hgvs": [
        "NC_000010.10:g.43620335C>A",
        "CM000672.1:g.43620335C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 42940341,
          "referenceAllele": "C",
          "start": 42940340
        }
      ],
      "hgvs": [
        "NC_000010.9:g.42940341C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 52819,
          "referenceAllele": "C",
          "start": 52818
        }
      ],
      "hgvs": [
        "NG_007489.1:g.52819C>A",
        "LRG_518:g.52819C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000611"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2721,
          "referenceAllele": "C",
          "start": 2720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.5:c.2548C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.2:p.Arg850Ser",
        "hgvsWellDefined": "ENSP00000480088.2:p.Arg850Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2518,
          "referenceAllele": "C",
          "start": 2517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683007.1:n.2518C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3134,
          "referenceAllele": "C",
          "start": 3133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.6:c.2944C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Arg982Ser",
        "hgvsWellDefined": "ENSP00000344798.4:p.Arg982Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3134,
          "referenceAllele": "C",
          "start": 3133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.8:c.2944C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Arg982Ser",
        "hgvsWellDefined": "ENSP00000347942.3:p.Arg982Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748710",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.2944C>A"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.2944C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Arg982Ser"
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Arg982Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2501,
          "referenceAllele": "C",
          "start": 2500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000671844.1:c.*1538C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500541.1:n.*1538C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1944,
          "referenceAllele": "C",
          "start": 1943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000672389.1:c.*1538C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500252.1:n.*1538C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3124,
          "referenceAllele": "C",
          "start": 3123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.5:c.2944C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Arg982Ser",
        "hgvsWellDefined": "ENSP00000344798.4:p.Arg982Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3176,
          "referenceAllele": "C",
          "start": 3175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.7:c.2944C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Arg982Ser",
        "hgvsWellDefined": "ENSP00000347942.3:p.Arg982Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1860,
          "referenceAllele": "C",
          "start": 1859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.4:c.*293C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.1:n.*293C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829942430",
      "coordinates": [
        {
          "allele": "A",
          "end": 3134,
          "referenceAllele": "C",
          "start": 3133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.4:c.2944C>A",
        "LRG_518t2:c.2944C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Arg982Ser",
        "hgvsWellDefined": "NP_065681.1:p.Arg982Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829949277",
      "coordinates": [
        {
          "allele": "A",
          "end": 3134,
          "referenceAllele": "C",
          "start": 3133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.4:c.2944C>A",
        "LRG_518t1:c.2944C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Arg982Ser",
        "hgvsWellDefined": "NP_066124.1:p.Arg982Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3176,
          "referenceAllele": "C",
          "start": 3175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "XM_011540027.1:c.2944C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538329.1:p.Arg982Ser",
        "hgvsWellDefined": "XP_011538329.1:p.Arg982Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106977"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828048927",
      "coordinates": [
        {
          "allele": "A",
          "end": 2539,
          "referenceAllele": "C",
          "start": 2538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_001355216.1:c.2182C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001342145.1:p.Arg728Ser",
        "hgvsWellDefined": "NP_001342145.1:p.Arg728Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522845"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829942430",
      "coordinates": [
        {
          "allele": "A",
          "end": 3176,
          "referenceAllele": "C",
          "start": 3175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.5:c.2944C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Arg982Ser",
        "hgvsWellDefined": "NP_065681.1:p.Arg982Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829949277",
      "coordinates": [
        {
          "allele": "A",
          "end": 3176,
          "referenceAllele": "C",
          "start": 3175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.5:c.2944C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Arg982Ser",
        "hgvsWellDefined": "NP_066124.1:p.Arg982Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829949277",
      "coordinates": [
        {
          "allele": "A",
          "end": 3134,
          "referenceAllele": "C",
          "start": 3133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.6:c.2944C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Arg982Ser",
        "hgvsWellDefined": "NP_066124.1:p.Arg982Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670171",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.2944C>A"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.2944C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Arg982Ser"
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Arg982Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829942430",
      "coordinates": [
        {
          "allele": "A",
          "end": 3134,
          "referenceAllele": "C",
          "start": 3133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.6:c.2944C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Arg982Ser",
        "hgvsWellDefined": "NP_065681.1:p.Arg982Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728447"
    }
  ],
  "type": "nucleotide"
}