{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16616779",
  "communityStandardTitle": [
    "NM_001953.5(TYMP):c.467A>G (p.Asp156Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=224754[alleleid]",
        "alleleId": 224754,
        "preferredName": "NM_001953.5(TYMP):c.467A>G (p.Asp156Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/223029",
        "RCV": [
          "RCV000208704"
        ],
        "variationId": 223029
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.50966990T>C?assembly=hg19",
        "id": "chr22:g.50966990T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.50528561T>C?assembly=hg38",
        "id": "chr22:g.50528561T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064792863",
        "rs": 1064792863
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 50528561,
          "referenceAllele": "T",
          "start": 50528560
        }
      ],
      "hgvs": [
        "NC_000022.11:g.50528561T>C",
        "CM000684.2:g.50528561T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 50966990,
          "referenceAllele": "T",
          "start": 50966989
        }
      ],
      "hgvs": [
        "NC_000022.10:g.50966990T>C",
        "CM000684.1:g.50966990T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 49313856,
          "referenceAllele": "T",
          "start": 49313855
        }
      ],
      "hgvs": [
        "NC_000022.9:g.49313856T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6525,
          "referenceAllele": "A",
          "start": 6524
        }
      ],
      "hgvs": [
        "NG_011860.1:g.6525A>G",
        "LRG_727:g.6525A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002037"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2879,
          "referenceAllele": "A",
          "start": 2878
        }
      ],
      "hgvs": [
        "NG_016235.1:g.2879A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003035"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 586,
          "referenceAllele": "A",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000252029.8:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252029.3:p.Asp156Gly",
        "hgvsWellDefined": "ENSP00000252029.3:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741506",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252029.8:c.467A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001953.5:c.467A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252029.3:p.Asp156Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001944.1:p.Asp156Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 621,
          "referenceAllele": "A",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395680.6:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379037.1:p.Asp156Gly",
        "hgvsWellDefined": "ENSP00000379037.1:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753424"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 586,
          "referenceAllele": "A",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395681.6:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379038.1:p.Asp156Gly",
        "hgvsWellDefined": "ENSP00000379038.1:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753425"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 592,
          "referenceAllele": "A",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000650719.1:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498276.1:p.Asp156Gly",
        "hgvsWellDefined": "ENSP00000498276.1:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771271"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 108,
          "endIntronDirection": "-",
          "endIntronOffset": 843,
          "referenceAllele": "A",
          "start": 108,
          "startIntronDirection": "-",
          "startIntronOffset": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000651401.1:c.1-844A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499115.1:n.1-844A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771647"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 586,
          "referenceAllele": "A",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000651906.1:n.586A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771923"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 178,
          "referenceAllele": "A",
          "start": 177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000652352.1:c.178A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498579.1:p.Ile60Val",
        "hgvsWellDefined": "ENSP00000498579.1:p.Ile60Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772157"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 630,
          "referenceAllele": "A",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000252029.7:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252029.3:p.Asp156Gly",
        "hgvsWellDefined": "ENSP00000252029.3:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249780"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 618,
          "referenceAllele": "A",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395678.7:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379036.3:p.Asp156Gly",
        "hgvsWellDefined": "ENSP00000379036.3:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276828"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 608,
          "referenceAllele": "A",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395680.5:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379037.1:p.Asp156Gly",
        "hgvsWellDefined": "ENSP00000379037.1:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276830"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 589,
          "referenceAllele": "A",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000395681.5:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379038.1:p.Asp156Gly",
        "hgvsWellDefined": "ENSP00000379038.1:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276831"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 514,
          "endIntronDirection": "+",
          "endIntronOffset": 575,
          "referenceAllele": "A",
          "start": 514,
          "startIntronDirection": "+",
          "startIntronOffset": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000425169.1:c.417+575A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395875.1:n.417+575A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288630"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 592,
          "referenceAllele": "A",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000476284.1:n.592A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317377"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1280,
          "referenceAllele": "A",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000487162.1:n.1280A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325791"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 754,
          "referenceAllele": "A",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "ENST00000487577.5:n.754A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326112"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825567793",
      "coordinates": [
        {
          "allele": "G",
          "end": 671,
          "referenceAllele": "A",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113755.2:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107227.1:p.Asp156Gly",
        "hgvsWellDefined": "NP_001107227.1:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011278"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825568334",
      "coordinates": [
        {
          "allele": "G",
          "end": 843,
          "referenceAllele": "A",
          "start": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113756.2:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107228.1:p.Asp156Gly",
        "hgvsWellDefined": "NP_001107228.1:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011279"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826449415",
      "coordinates": [
        {
          "allele": "G",
          "end": 694,
          "referenceAllele": "A",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001257988.1:c.467A>G",
        "LRG_727t1:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244917.1:p.Asp156Gly",
        "hgvsWellDefined": "NP_001244917.1:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826449927",
      "coordinates": [
        {
          "allele": "G",
          "end": 659,
          "referenceAllele": "A",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001257989.1:c.467A>G",
        "LRG_727t2:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244918.1:p.Asp156Gly",
        "hgvsWellDefined": "NP_001244918.1:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019660"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645407191",
      "coordinates": [
        {
          "allele": "G",
          "end": 659,
          "referenceAllele": "A",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001953.4:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001944.1:p.Asp156Gly",
        "hgvsWellDefined": "NP_001944.1:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027279"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825567793",
      "coordinates": [
        {
          "allele": "G",
          "end": 598,
          "referenceAllele": "A",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113755.3:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107227.1:p.Asp156Gly",
        "hgvsWellDefined": "NP_001107227.1:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825568334",
      "coordinates": [
        {
          "allele": "G",
          "end": 770,
          "referenceAllele": "A",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113756.3:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107228.1:p.Asp156Gly",
        "hgvsWellDefined": "NP_001107228.1:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645407191",
      "coordinates": [
        {
          "allele": "G",
          "end": 586,
          "referenceAllele": "A",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001953.5:c.467A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001944.1:p.Asp156Gly",
        "hgvsWellDefined": "NP_001944.1:p.Asp156Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695409",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252029.8:c.467A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001953.5:c.467A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252029.3:p.Asp156Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001944.1:p.Asp156Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}