{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA376770865",
  "communityStandardTitle": [
    "NM_020975.6(RET):c.454A>G (p.Thr152Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2424045[alleleid]",
        "alleleId": 2424045,
        "preferredName": "NM_020975.6(RET):c.454A>G (p.Thr152Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2454156",
        "RCV": [
          "RCV003172688",
          "RCV003779602"
        ],
        "variationId": 2454156
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.43597906A>G?assembly=hg19",
        "id": "chr10:g.43597906A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.43102458A>G?assembly=hg38",
        "id": "chr10:g.43102458A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1588864028",
        "rs": 1588864028
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 43102458,
          "referenceAllele": "A",
          "start": 43102457
        }
      ],
      "hgvs": [
        "NC_000010.11:g.43102458A>G",
        "CM000672.2:g.43102458A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 43597906,
          "referenceAllele": "A",
          "start": 43597905
        }
      ],
      "hgvs": [
        "NC_000010.10:g.43597906A>G",
        "CM000672.1:g.43597906A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 42917912,
          "referenceAllele": "A",
          "start": 42917911
        }
      ],
      "hgvs": [
        "NC_000010.9:g.42917912A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 30390,
          "referenceAllele": "A",
          "start": 30389
        }
      ],
      "hgvs": [
        "NG_007489.1:g.30390A>G",
        "LRG_518:g.30390A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000611"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 627,
          "referenceAllele": "A",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.5:c.454A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.2:p.Thr152Ala",
        "hgvsWellDefined": "ENSP00000480088.2:p.Thr152Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826472"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 375,
          "referenceAllele": "A",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683278.1:c.375A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828259"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 356,
          "referenceAllele": "A",
          "start": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000684216.1:c.356A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829173"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 644,
          "referenceAllele": "A",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.6:c.454A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Thr152Ala",
        "hgvsWellDefined": "ENSP00000344798.4:p.Thr152Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747868"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 644,
          "referenceAllele": "A",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.8:c.454A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Thr152Ala",
        "hgvsWellDefined": "ENSP00000347942.3:p.Thr152Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748710",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.454A>G"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.454A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Thr152Ala"
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Thr152Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 396,
          "referenceAllele": "A",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000638465.1:c.396A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764541"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 239,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "A",
          "start": 239,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000640619.1:c.240-13A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765584"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 649,
          "referenceAllele": "A",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000671844.1:c.454A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500541.1:p.Thr152Ala",
        "hgvsWellDefined": "ENSP00000500541.1:p.Thr152Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 263,
          "endIntronDirection": "-",
          "endIntronOffset": 8748,
          "referenceAllele": "A",
          "start": 263,
          "startIntronDirection": "-",
          "startIntronOffset": 8749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000672389.1:c.74-8749A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500252.1:n.74-8749A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773367"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 634,
          "referenceAllele": "A",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.5:c.454A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Thr152Ala",
        "hgvsWellDefined": "ENSP00000344798.4:p.Thr152Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247408"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 686,
          "referenceAllele": "A",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.7:c.454A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Thr152Ala",
        "hgvsWellDefined": "ENSP00000347942.3:p.Thr152Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247251"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 258,
          "endIntronDirection": "-",
          "endIntronOffset": 9640,
          "referenceAllele": "A",
          "start": 258,
          "startIntronDirection": "-",
          "startIntronOffset": 9641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000498820.5:c.74-9641A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419080.1:n.74-9641A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247185"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 644,
          "referenceAllele": "A",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.4:c.454A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.1:p.Thr152Ala",
        "hgvsWellDefined": "ENSP00000480088.1:p.Thr152Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829939568",
      "coordinates": [
        {
          "allele": "G",
          "end": 644,
          "referenceAllele": "A",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.4:c.454A>G",
        "LRG_518t2:c.454A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Thr152Ala",
        "hgvsWellDefined": "NP_065681.1:p.Thr152Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580441088",
      "coordinates": [
        {
          "allele": "G",
          "end": 644,
          "referenceAllele": "A",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.4:c.454A>G",
        "LRG_518t1:c.454A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Thr152Ala",
        "hgvsWellDefined": "NP_066124.1:p.Thr152Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 686,
          "referenceAllele": "A",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "XM_011540027.1:c.454A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538329.1:p.Thr152Ala",
        "hgvsWellDefined": "XP_011538329.1:p.Thr152Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106977"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829939568",
      "coordinates": [
        {
          "allele": "G",
          "end": 686,
          "referenceAllele": "A",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.5:c.454A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Thr152Ala",
        "hgvsWellDefined": "NP_065681.1:p.Thr152Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580441088",
      "coordinates": [
        {
          "allele": "G",
          "end": 686,
          "referenceAllele": "A",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.5:c.454A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Thr152Ala",
        "hgvsWellDefined": "NP_066124.1:p.Thr152Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580441088",
      "coordinates": [
        {
          "allele": "G",
          "end": 644,
          "referenceAllele": "A",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.6:c.454A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Thr152Ala",
        "hgvsWellDefined": "NP_066124.1:p.Thr152Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670171",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.454A>G"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.454A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Thr152Ala"
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Thr152Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829939568",
      "coordinates": [
        {
          "allele": "G",
          "end": 644,
          "referenceAllele": "A",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.6:c.454A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Thr152Ala",
        "hgvsWellDefined": "NP_065681.1:p.Thr152Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728447"
    }
  ],
  "type": "nucleotide"
}