{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA126774",
  "communityStandardTitle": [
    "NM_001953.5(TYMP):c.457G>A (p.Gly153Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31699[alleleid]",
        "alleleId": 31699,
        "preferredName": "NM_001953.5(TYMP):c.457G>A (p.Gly153Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16660",
        "RCV": [
          "RCV000018140",
          "RCV001052862",
          "RCV001826476"
        ],
        "variationId": 16660
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-50967000-C-T",
        "id": "22-50967000-C-T",
        "variant": "22:50967000 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.50967000C>T?assembly=hg19",
        "id": "chr22:g.50967000C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.50528571C>T?assembly=hg38",
        "id": "chr22:g.50528571C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121913038",
        "rs": 121913038
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-50967000-C-T?dataset=gnomad_r2_1",
        "id": "22-50967000-C-T",
        "variant": "22:50967000 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-50528571-C-T?dataset=gnomad_r3",
        "id": "22-50528571-C-T",
        "variant": "22:50528571 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-50528571-C-T?dataset=gnomad_r4",
        "id": "22-50528571-C-T",
        "variant": "22:50528571 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 50528571,
          "referenceAllele": "C",
          "start": 50528570
        }
      ],
      "hgvs": [
        "NC_000022.11:g.50528571C>T",
        "CM000684.2:g.50528571C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 50967000,
          "referenceAllele": "C",
          "start": 50966999
        }
      ],
      "hgvs": [
        "NC_000022.10:g.50967000C>T",
        "CM000684.1:g.50967000C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 49313866,
          "referenceAllele": "C",
          "start": 49313865
        }
      ],
      "hgvs": [
        "NC_000022.9:g.49313866C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6515,
          "referenceAllele": "G",
          "start": 6514
        }
      ],
      "hgvs": [
        "NG_011860.1:g.6515G>A",
        "LRG_727:g.6515G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2869,
          "referenceAllele": "G",
          "start": 2868
        }
      ],
      "hgvs": [
        "NG_016235.1:g.2869G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003035"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 576,
          "referenceAllele": "G",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000252029.8:c.457G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252029.3:p.Gly153Ser",
        "hgvsWellDefined": "ENSP00000252029.3:p.Gly153Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741506",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252029.8:c.457G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001953.5:c.457G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252029.3:p.Gly153Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001944.1:p.Gly153Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 611,
          "referenceAllele": "G",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395680.6:c.457G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379037.1:p.Gly153Ser",
        "hgvsWellDefined": "ENSP00000379037.1:p.Gly153Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 576,
          "referenceAllele": "G",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395681.6:c.457G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379038.1:p.Gly153Ser",
        "hgvsWellDefined": "ENSP00000379038.1:p.Gly153Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 582,
          "referenceAllele": "G",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000650719.1:c.457G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498276.1:p.Gly153Ser",
        "hgvsWellDefined": "ENSP00000498276.1:p.Gly153Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771271"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 108,
          "endIntronDirection": "-",
          "endIntronOffset": 853,
          "referenceAllele": "G",
          "start": 108,
          "startIntronDirection": "-",
          "startIntronOffset": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000651401.1:c.1-854G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499115.1:n.1-854G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771647"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 576,
          "referenceAllele": "G",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000651906.1:n.576G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771923"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 168,
          "referenceAllele": "G",
          "start": 167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000652352.1:c.168G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498579.1:p.Glu56="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772157"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 620,
          "referenceAllele": "G",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000252029.7:c.457G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252029.3:p.Gly153Ser",
        "hgvsWellDefined": "ENSP00000252029.3:p.Gly153Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249780"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 608,
          "referenceAllele": "G",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395678.7:c.457G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379036.3:p.Gly153Ser",
        "hgvsWellDefined": "ENSP00000379036.3:p.Gly153Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276828"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 598,
          "referenceAllele": "G",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395680.5:c.457G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379037.1:p.Gly153Ser",
        "hgvsWellDefined": "ENSP00000379037.1:p.Gly153Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276830"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 579,
          "referenceAllele": "G",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395681.5:c.457G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379038.1:p.Gly153Ser",
        "hgvsWellDefined": "ENSP00000379038.1:p.Gly153Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 514,
          "endIntronDirection": "+",
          "endIntronOffset": 565,
          "referenceAllele": "G",
          "start": 514,
          "startIntronDirection": "+",
          "startIntronOffset": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000425169.1:c.417+565G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395875.1:n.417+565G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 582,
          "referenceAllele": "G",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000476284.1:n.582G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1270,
          "referenceAllele": "G",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000487162.1:n.1270G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325791"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 744,
          "referenceAllele": "G",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000487577.5:n.744G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326112"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100846",
      "coordinates": [
        {
          "allele": "A",
          "end": 661,
          "referenceAllele": "G",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113755.2:c.457G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107227.1:p.Gly153Ser",
        "hgvsWellDefined": "NP_001107227.1:p.Gly153Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011278"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825568331",
      "coordinates": [
        {
          "allele": "A",
          "end": 833,
          "referenceAllele": "G",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113756.2:c.457G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107228.1:p.Gly153Ser",
        "hgvsWellDefined": "NP_001107228.1:p.Gly153Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011279"
    },
    {
      "@id": "http://reg.genome.network/allele/PA126777",
      "coordinates": [
        {
          "allele": "A",
          "end": 684,
          "referenceAllele": "G",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001257988.1:c.457G>A",
        "LRG_727t1:c.457G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244917.1:p.Gly153Ser",
        "hgvsWellDefined": "NP_001244917.1:p.Gly153Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA126778",
      "coordinates": [
        {
          "allele": "A",
          "end": 649,
          "referenceAllele": "G",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001257989.1:c.457G>A",
        "LRG_727t2:c.457G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244918.1:p.Gly153Ser",
        "hgvsWellDefined": "NP_001244918.1:p.Gly153Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019660"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915977586",
      "coordinates": [
        {
          "allele": "A",
          "end": 649,
          "referenceAllele": "G",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001953.4:c.457G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001944.1:p.Gly153Ser",
        "hgvsWellDefined": "NP_001944.1:p.Gly153Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027279"
    },
    {
      "@id": "http://reg.genome.network/allele/PA100846",
      "coordinates": [
        {
          "allele": "A",
          "end": 588,
          "referenceAllele": "G",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113755.3:c.457G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107227.1:p.Gly153Ser",
        "hgvsWellDefined": "NP_001107227.1:p.Gly153Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825568331",
      "coordinates": [
        {
          "allele": "A",
          "end": 760,
          "referenceAllele": "G",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113756.3:c.457G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107228.1:p.Gly153Ser",
        "hgvsWellDefined": "NP_001107228.1:p.Gly153Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915977586",
      "coordinates": [
        {
          "allele": "A",
          "end": 576,
          "referenceAllele": "G",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001953.5:c.457G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001944.1:p.Gly153Ser",
        "hgvsWellDefined": "NP_001944.1:p.Gly153Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695409",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252029.8:c.457G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001953.5:c.457G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252029.3:p.Gly153Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001944.1:p.Gly153Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}