{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16616785",
  "communityStandardTitle": [
    "NM_001953.5(TYMP):c.715G>A (p.Ala239Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=224764[alleleid]",
        "alleleId": 224764,
        "preferredName": "NM_001953.5(TYMP):c.715G>A (p.Ala239Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/223039",
        "RCV": [
          "RCV000208661"
        ],
        "variationId": 223039
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.50965644C>T?assembly=hg19",
        "id": "chr22:g.50965644C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.50527215C>T?assembly=hg38",
        "id": "chr22:g.50527215C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064792869",
        "rs": 1064792869
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 50527215,
          "referenceAllele": "C",
          "start": 50527214
        }
      ],
      "hgvs": [
        "NC_000022.11:g.50527215C>T",
        "CM000684.2:g.50527215C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 50965644,
          "referenceAllele": "C",
          "start": 50965643
        }
      ],
      "hgvs": [
        "NC_000022.10:g.50965644C>T",
        "CM000684.1:g.50965644C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 49312510,
          "referenceAllele": "C",
          "start": 49312509
        }
      ],
      "hgvs": [
        "NC_000022.9:g.49312510C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7871,
          "referenceAllele": "G",
          "start": 7870
        }
      ],
      "hgvs": [
        "NG_011860.1:g.7871G>A",
        "LRG_727:g.7871G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4225,
          "referenceAllele": "G",
          "start": 4224
        }
      ],
      "hgvs": [
        "NG_016235.1:g.4225G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003035"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 834,
          "referenceAllele": "G",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000252029.8:c.715G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252029.3:p.Ala239Thr",
        "hgvsWellDefined": "ENSP00000252029.3:p.Ala239Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741506",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252029.8:c.715G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001953.5:c.715G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252029.3:p.Ala239Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001944.1:p.Ala239Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 869,
          "referenceAllele": "G",
          "start": 868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395680.6:c.715G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379037.1:p.Ala239Thr",
        "hgvsWellDefined": "ENSP00000379037.1:p.Ala239Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 834,
          "referenceAllele": "G",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395681.6:c.715G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379038.1:p.Ala239Thr",
        "hgvsWellDefined": "ENSP00000379038.1:p.Ala239Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 771,
          "endIntronDirection": "+",
          "endIntronOffset": 373,
          "referenceAllele": "G",
          "start": 771,
          "startIntronDirection": "+",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000650719.1:c.646+373G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498276.1:n.646+373G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771271"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 307,
          "referenceAllele": "G",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000651401.1:c.199G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499115.1:p.Ala67Thr",
        "hgvsWellDefined": "ENSP00000499115.1:p.Ala67Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771647"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1138,
          "referenceAllele": "G",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000651906.1:n.1138G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771923"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 426,
          "referenceAllele": "G",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000652352.1:c.426G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498579.1:n.426G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772157"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000652401.1:c.216G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772190"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 878,
          "referenceAllele": "G",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000252029.7:c.715G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252029.3:p.Ala239Thr",
        "hgvsWellDefined": "ENSP00000252029.3:p.Ala239Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249780"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 866,
          "referenceAllele": "G",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395678.7:c.715G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379036.3:p.Ala239Thr",
        "hgvsWellDefined": "ENSP00000379036.3:p.Ala239Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276828"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 856,
          "referenceAllele": "G",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395680.5:c.715G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379037.1:p.Ala239Thr",
        "hgvsWellDefined": "ENSP00000379037.1:p.Ala239Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276830"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 837,
          "referenceAllele": "G",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395681.5:c.715G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379038.1:p.Ala239Thr",
        "hgvsWellDefined": "ENSP00000379038.1:p.Ala239Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 713,
          "referenceAllele": "G",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000425169.1:c.616G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395875.1:p.Ala206Thr",
        "hgvsWellDefined": "ENSP00000395875.1:p.Ala206Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 771,
          "endIntronDirection": "+",
          "endIntronOffset": 373,
          "referenceAllele": "G",
          "start": 771,
          "startIntronDirection": "+",
          "startIntronOffset": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000476284.1:n.771+373G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1002,
          "referenceAllele": "G",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000487577.5:n.1002G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326112"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825567861",
      "coordinates": [
        {
          "allele": "A",
          "end": 919,
          "referenceAllele": "G",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113755.2:c.715G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107227.1:p.Ala239Thr",
        "hgvsWellDefined": "NP_001107227.1:p.Ala239Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011278"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825568404",
      "coordinates": [
        {
          "allele": "A",
          "end": 1091,
          "referenceAllele": "G",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113756.2:c.715G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107228.1:p.Ala239Thr",
        "hgvsWellDefined": "NP_001107228.1:p.Ala239Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011279"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826449477",
      "coordinates": [
        {
          "allele": "A",
          "end": 942,
          "referenceAllele": "G",
          "start": 941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001257988.1:c.715G>A",
        "LRG_727t1:c.715G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244917.1:p.Ala239Thr",
        "hgvsWellDefined": "NP_001244917.1:p.Ala239Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826449988",
      "coordinates": [
        {
          "allele": "A",
          "end": 907,
          "referenceAllele": "G",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001257989.1:c.715G>A",
        "LRG_727t2:c.715G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244918.1:p.Ala239Thr",
        "hgvsWellDefined": "NP_001244918.1:p.Ala239Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019660"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645407241",
      "coordinates": [
        {
          "allele": "A",
          "end": 907,
          "referenceAllele": "G",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001953.4:c.715G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001944.1:p.Ala239Thr",
        "hgvsWellDefined": "NP_001944.1:p.Ala239Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027279"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825567861",
      "coordinates": [
        {
          "allele": "A",
          "end": 846,
          "referenceAllele": "G",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113755.3:c.715G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107227.1:p.Ala239Thr",
        "hgvsWellDefined": "NP_001107227.1:p.Ala239Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825568404",
      "coordinates": [
        {
          "allele": "A",
          "end": 1018,
          "referenceAllele": "G",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113756.3:c.715G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107228.1:p.Ala239Thr",
        "hgvsWellDefined": "NP_001107228.1:p.Ala239Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645407241",
      "coordinates": [
        {
          "allele": "A",
          "end": 834,
          "referenceAllele": "G",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001953.5:c.715G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001944.1:p.Ala239Thr",
        "hgvsWellDefined": "NP_001944.1:p.Ala239Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695409",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252029.8:c.715G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001953.5:c.715G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252029.3:p.Ala239Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001944.1:p.Ala239Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}