{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2410908734",
  "communityStandardTitle": [
    "NM_001953.5(TYMP):c.530T= (p.Leu177=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064792866",
        "rs": 1064792866
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 50527704,
          "referenceAllele": "A",
          "start": 50527703
        }
      ],
      "hgvs": [
        "NC_000022.11:g.50527704A=",
        "CM000684.2:g.50527704A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 50966133,
          "referenceAllele": "A",
          "start": 50966132
        }
      ],
      "hgvs": [
        "NC_000022.10:g.50966133A=",
        "CM000684.1:g.50966133A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 49312999,
          "referenceAllele": "A",
          "start": 49312998
        }
      ],
      "hgvs": [
        "NC_000022.9:g.49312999A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7382,
          "referenceAllele": "T",
          "start": 7381
        }
      ],
      "hgvs": [
        "NG_011860.1:g.7382T=",
        "LRG_727:g.7382T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3736,
          "referenceAllele": "T",
          "start": 3735
        }
      ],
      "hgvs": [
        "NG_016235.1:g.3736T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003035"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "T",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000252029.8:c.530T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252029.3:p.Leu177="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741506",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252029.8:c.530T="
          },
          "RefSeq": {
            "hgvs": "NM_001953.5:c.530T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252029.3:p.Leu177="
          },
          "RefSeq": {
            "hgvs": "NP_001944.1:p.Leu177="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 684,
          "referenceAllele": "T",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395680.6:c.530T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379037.1:p.Leu177="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "T",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395681.6:c.530T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379038.1:p.Leu177="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 655,
          "referenceAllele": "T",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000650719.1:c.530T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498276.1:p.Leu177="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771271"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 122,
          "referenceAllele": "T",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000651401.1:c.14T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499115.1:p.Leu5="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771647"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "T",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000651906.1:n.649T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 241,
          "referenceAllele": "T",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000652352.1:c.241T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498579.1:p.Trp81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 693,
          "referenceAllele": "T",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000252029.7:c.530T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252029.3:p.Leu177="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249780"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "T",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395678.7:c.530T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379036.3:p.Leu177="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 671,
          "referenceAllele": "T",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395680.5:c.530T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379037.1:p.Leu177="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 652,
          "referenceAllele": "T",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395681.5:c.530T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379038.1:p.Leu177="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 528,
          "referenceAllele": "T",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000425169.1:c.431T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395875.1:p.Leu144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 655,
          "referenceAllele": "T",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000476284.1:n.655T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 817,
          "referenceAllele": "T",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000487577.5:n.817T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326112"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 734,
          "referenceAllele": "T",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113755.2:c.530T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001107227.1:p.Leu177="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011278"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 906,
          "referenceAllele": "T",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113756.2:c.530T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001107228.1:p.Leu177="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011279"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 757,
          "referenceAllele": "T",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001257988.1:c.530T=",
        "LRG_727t1:c.530T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001244917.1:p.Leu177="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019659"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 722,
          "referenceAllele": "T",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001257989.1:c.530T=",
        "LRG_727t2:c.530T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001244918.1:p.Leu177="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019660"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088797380",
      "coordinates": [
        {
          "allele": "T",
          "end": 722,
          "referenceAllele": "T",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001953.4:c.530T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001944.1:p.Leu177="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027279"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 661,
          "referenceAllele": "T",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113755.3:c.530T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001107227.1:p.Leu177="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 833,
          "referenceAllele": "T",
          "start": 832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113756.3:c.530T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001107228.1:p.Leu177="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088797380",
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "T",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001953.5:c.530T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001944.1:p.Leu177="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695409",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252029.8:c.530T="
          },
          "RefSeq": {
            "hgvs": "NM_001953.5:c.530T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252029.3:p.Leu177="
          },
          "RefSeq": {
            "hgvs": "NP_001944.1:p.Leu177="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}