{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2410907774",
  "communityStandardTitle": [
    "NM_001953.5(TYMP):c.1112T= (p.Leu371=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060499533",
        "rs": 1060499533
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 50526293,
          "referenceAllele": "A",
          "start": 50526292
        }
      ],
      "hgvs": [
        "NC_000022.11:g.50526293A=",
        "CM000684.2:g.50526293A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 50964722,
          "referenceAllele": "A",
          "start": 50964721
        }
      ],
      "hgvs": [
        "NC_000022.10:g.50964722A=",
        "CM000684.1:g.50964722A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 49311588,
          "referenceAllele": "A",
          "start": 49311587
        }
      ],
      "hgvs": [
        "NC_000022.9:g.49311588A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8793,
          "referenceAllele": "T",
          "start": 8792
        }
      ],
      "hgvs": [
        "NG_011860.1:g.8793T=",
        "LRG_727:g.8793T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5147,
          "referenceAllele": "T",
          "start": 5146
        }
      ],
      "hgvs": [
        "NG_016235.1:g.5147T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 23078,
          "referenceAllele": "A",
          "start": 23077
        }
      ],
      "hgvs": [
        "NG_021419.1:g.23078A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003644"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1231,
          "referenceAllele": "T",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000252029.8:c.1112T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252029.3:p.Leu371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741506",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252029.8:c.1112T="
          },
          "RefSeq": {
            "hgvs": "NM_001953.5:c.1112T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252029.3:p.Leu371="
          },
          "RefSeq": {
            "hgvs": "NP_001944.1:p.Leu371="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1266,
          "referenceAllele": "T",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395680.6:c.1112T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379037.1:p.Leu371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1231,
          "referenceAllele": "T",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395681.6:c.1112T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379038.1:p.Leu371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 169,
          "referenceAllele": "T",
          "start": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010604",
      "geneNCBI_id": 9997,
      "geneSymbol": "SCO2",
      "hgvs": [
        "ENST00000543927.6:c.-61T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444433.1:n.-61T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759753"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 45,
          "referenceAllele": "T",
          "start": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000651490.1:c.45T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 613,
          "referenceAllele": "T",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000652401.1:c.613T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1275,
          "referenceAllele": "T",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000252029.7:c.1112T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252029.3:p.Leu371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249780"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1263,
          "referenceAllele": "T",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395678.7:c.1112T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379036.3:p.Leu371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1253,
          "referenceAllele": "T",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395680.5:c.1112T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379037.1:p.Leu371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1234,
          "referenceAllele": "T",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395681.5:c.1112T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379038.1:p.Leu371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 147,
          "referenceAllele": "T",
          "start": 146
        }
      ],
      "hgvs": [
        "ENST00000423348.1:c.-61T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403570.1:n.-61T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1110,
          "referenceAllele": "T",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000425169.1:c.1013T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395875.1:p.Leu338="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1118,
          "referenceAllele": "T",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000476284.1:n.1118T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1399,
          "referenceAllele": "T",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000487577.5:n.1399T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326112"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 147,
          "referenceAllele": "T",
          "start": 146
        }
      ],
      "hgvs": [
        "ENST00000543927.5:c.-61T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444433.1:n.-61T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364285"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825568020",
      "coordinates": [
        {
          "allele": "T",
          "end": 1316,
          "referenceAllele": "T",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113755.2:c.1112T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001107227.1:p.Leu371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011278"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825568566",
      "coordinates": [
        {
          "allele": "T",
          "end": 1488,
          "referenceAllele": "T",
          "start": 1487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113756.2:c.1112T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001107228.1:p.Leu371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011279"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 147,
          "referenceAllele": "T",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010604",
      "geneNCBI_id": 9997,
      "geneSymbol": "SCO2",
      "hgvs": [
        "NM_001169109.1:c.-61T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001162580.1:n.-61T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015144"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826449632",
      "coordinates": [
        {
          "allele": "T",
          "end": 1339,
          "referenceAllele": "T",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001257988.1:c.1112T=",
        "LRG_727t1:c.1112T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001244917.1:p.Leu371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826450142",
      "coordinates": [
        {
          "allele": "T",
          "end": 1304,
          "referenceAllele": "T",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001257989.1:c.1112T=",
        "LRG_727t2:c.1112T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001244918.1:p.Leu371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019660"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829364333",
      "coordinates": [
        {
          "allele": "T",
          "end": 1304,
          "referenceAllele": "T",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001953.4:c.1112T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001944.1:p.Leu371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027279"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825568020",
      "coordinates": [
        {
          "allele": "T",
          "end": 1243,
          "referenceAllele": "T",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113755.3:c.1112T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001107227.1:p.Leu371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825568566",
      "coordinates": [
        {
          "allele": "T",
          "end": 1415,
          "referenceAllele": "T",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113756.3:c.1112T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001107228.1:p.Leu371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829364333",
      "coordinates": [
        {
          "allele": "T",
          "end": 1231,
          "referenceAllele": "T",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001953.5:c.1112T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001944.1:p.Leu371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695409",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252029.8:c.1112T="
          },
          "RefSeq": {
            "hgvs": "NM_001953.5:c.1112T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252029.3:p.Leu371="
          },
          "RefSeq": {
            "hgvs": "NP_001944.1:p.Leu371="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 150,
          "referenceAllele": "T",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010604",
      "geneNCBI_id": 9997,
      "geneSymbol": "SCO2",
      "hgvs": [
        "NM_001169109.2:c.-61T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001162580.1:n.-61T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713304"
    }
  ],
  "type": "nucleotide"
}