{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10321878",
  "communityStandardTitle": [
    "NM_001953.5(TYMP):c.128A>C (p.Lys43Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=224740[alleleid]",
        "alleleId": 224740,
        "preferredName": "NM_001953.5(TYMP):c.128A>C (p.Lys43Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/223015",
        "RCV": [
          "RCV000208616",
          "RCV002517410",
          "RCV003235133"
        ],
        "variationId": 223015
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-50968011-T-G",
        "id": "22-50968011-T-G",
        "variant": "22:50968011 T / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.50968011T>G?assembly=hg19",
        "id": "chr22:g.50968011T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.50529582T>G?assembly=hg38",
        "id": "chr22:g.50529582T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/752137335",
        "rs": 752137335
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-50968011-T-G?dataset=gnomad_r2_1",
        "id": "22-50968011-T-G",
        "variant": "22:50968011 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-50529582-T-G?dataset=gnomad_r3",
        "id": "22-50529582-T-G",
        "variant": "22:50529582 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-50529582-T-G?dataset=gnomad_r4",
        "id": "22-50529582-T-G",
        "variant": "22:50529582 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 50529582,
          "referenceAllele": "T",
          "start": 50529581
        }
      ],
      "hgvs": [
        "NC_000022.11:g.50529582T>G",
        "CM000684.2:g.50529582T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 50968011,
          "referenceAllele": "T",
          "start": 50968010
        }
      ],
      "hgvs": [
        "NC_000022.10:g.50968011T>G",
        "CM000684.1:g.50968011T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 49314877,
          "referenceAllele": "T",
          "start": 49314876
        }
      ],
      "hgvs": [
        "NC_000022.9:g.49314877T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5504,
          "referenceAllele": "A",
          "start": 5503
        }
      ],
      "hgvs": [
        "NG_011860.1:g.5504A>C",
        "LRG_727:g.5504A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002037"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1858,
          "referenceAllele": "A",
          "start": 1857
        }
      ],
      "hgvs": [
        "NG_016235.1:g.1858A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003035"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 247,
          "referenceAllele": "A",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000252029.8:c.128A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252029.3:p.Lys43Thr",
        "hgvsWellDefined": "ENSP00000252029.3:p.Lys43Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741506",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252029.8:c.128A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001953.5:c.128A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252029.3:p.Lys43Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001944.1:p.Lys43Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 282,
          "referenceAllele": "A",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395680.6:c.128A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379037.1:p.Lys43Thr",
        "hgvsWellDefined": "ENSP00000379037.1:p.Lys43Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753424"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 247,
          "referenceAllele": "A",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395681.6:c.128A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379038.1:p.Lys43Thr",
        "hgvsWellDefined": "ENSP00000379038.1:p.Lys43Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753425"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 253,
          "referenceAllele": "A",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000650719.1:c.128A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498276.1:p.Lys43Thr",
        "hgvsWellDefined": "ENSP00000498276.1:p.Lys43Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771271"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 267,
          "referenceAllele": "A",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000651095.1:n.267A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771466"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 275,
          "referenceAllele": "A",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000651196.1:c.128A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499096.1:p.Lys43Thr",
        "hgvsWellDefined": "ENSP00000499096.1:p.Lys43Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771522"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 108,
          "endIntronDirection": "+",
          "endIntronOffset": 322,
          "referenceAllele": "A",
          "start": 108,
          "startIntronDirection": "+",
          "startIntronOffset": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000651401.1:c.-1+322A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499115.1:n.-1+322A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771647"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 247,
          "referenceAllele": "A",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000651906.1:n.247A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771923"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 247,
          "referenceAllele": "A",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000652237.1:n.247A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772094"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 291,
          "referenceAllele": "A",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000252029.7:c.128A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252029.3:p.Lys43Thr",
        "hgvsWellDefined": "ENSP00000252029.3:p.Lys43Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249780"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 279,
          "referenceAllele": "A",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395678.7:c.128A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379036.3:p.Lys43Thr",
        "hgvsWellDefined": "ENSP00000379036.3:p.Lys43Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276828"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 269,
          "referenceAllele": "A",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395680.5:c.128A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379037.1:p.Lys43Thr",
        "hgvsWellDefined": "ENSP00000379037.1:p.Lys43Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276830"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 250,
          "referenceAllele": "A",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395681.5:c.128A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379038.1:p.Lys43Thr",
        "hgvsWellDefined": "ENSP00000379038.1:p.Lys43Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 225,
          "referenceAllele": "A",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000425169.1:c.128A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395875.1:p.Lys43Thr",
        "hgvsWellDefined": "ENSP00000395875.1:p.Lys43Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288630"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 253,
          "referenceAllele": "A",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000476284.1:n.253A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317377"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 259,
          "referenceAllele": "A",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000487162.1:n.259A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325791"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 415,
          "referenceAllele": "A",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000487577.5:n.415A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326112"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825567681",
      "coordinates": [
        {
          "allele": "C",
          "end": 332,
          "referenceAllele": "A",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113755.2:c.128A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107227.1:p.Lys43Thr",
        "hgvsWellDefined": "NP_001107227.1:p.Lys43Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011278"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825568219",
      "coordinates": [
        {
          "allele": "C",
          "end": 504,
          "referenceAllele": "A",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113756.2:c.128A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107228.1:p.Lys43Thr",
        "hgvsWellDefined": "NP_001107228.1:p.Lys43Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011279"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826449311",
      "coordinates": [
        {
          "allele": "C",
          "end": 355,
          "referenceAllele": "A",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001257988.1:c.128A>C",
        "LRG_727t1:c.128A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244917.1:p.Lys43Thr",
        "hgvsWellDefined": "NP_001244917.1:p.Lys43Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826449824",
      "coordinates": [
        {
          "allele": "C",
          "end": 320,
          "referenceAllele": "A",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001257989.1:c.128A>C",
        "LRG_727t2:c.128A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244918.1:p.Lys43Thr",
        "hgvsWellDefined": "NP_001244918.1:p.Lys43Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019660"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645407123",
      "coordinates": [
        {
          "allele": "C",
          "end": 320,
          "referenceAllele": "A",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001953.4:c.128A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001944.1:p.Lys43Thr",
        "hgvsWellDefined": "NP_001944.1:p.Lys43Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027279"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825567681",
      "coordinates": [
        {
          "allele": "C",
          "end": 259,
          "referenceAllele": "A",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113755.3:c.128A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107227.1:p.Lys43Thr",
        "hgvsWellDefined": "NP_001107227.1:p.Lys43Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825568219",
      "coordinates": [
        {
          "allele": "C",
          "end": 431,
          "referenceAllele": "A",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113756.3:c.128A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107228.1:p.Lys43Thr",
        "hgvsWellDefined": "NP_001107228.1:p.Lys43Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645407123",
      "coordinates": [
        {
          "allele": "C",
          "end": 247,
          "referenceAllele": "A",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001953.5:c.128A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001944.1:p.Lys43Thr",
        "hgvsWellDefined": "NP_001944.1:p.Lys43Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695409",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252029.8:c.128A>C"
          },
          "RefSeq": {
            "hgvs": "NM_001953.5:c.128A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252029.3:p.Lys43Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001944.1:p.Lys43Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}