{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1310044905",
  "communityStandardTitle": [
    "NM_003659.4(AGPS):c.926C= (p.Thr309=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121434412",
        "rs": 121434412
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 177461948,
          "referenceAllele": "C",
          "start": 177461947
        }
      ],
      "hgvs": [
        "NC_000002.12:g.177461948C=",
        "CM000664.2:g.177461948C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 178326676,
          "referenceAllele": "C",
          "start": 178326675
        }
      ],
      "hgvs": [
        "NC_000002.11:g.178326676C=",
        "CM000664.1:g.178326676C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 178034922,
          "referenceAllele": "C",
          "start": 178034921
        }
      ],
      "hgvs": [
        "NC_000002.10:g.178034922C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 74206,
          "referenceAllele": "C",
          "start": 74205
        }
      ],
      "hgvs": [
        "NG_008968.1:g.74206C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001339"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 943,
          "referenceAllele": "C",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "ENST00000264167.11:c.926C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264167.4:p.Thr309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742631",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264167.11:c.926C="
          },
          "RefSeq": {
            "hgvs": "NM_003659.4:c.926C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264167.4:p.Thr309="
          },
          "RefSeq": {
            "hgvs": "NP_003650.1:p.Thr309="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2338,
          "referenceAllele": "C",
          "start": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "ENST00000460342.2:n.2338C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 970,
          "referenceAllele": "C",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "ENST00000637633.2:c.926C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490844.2:p.Thr309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764000"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 943,
          "referenceAllele": "C",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "ENST00000642466.2:c.926C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494433.2:p.Thr309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766761"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2155,
          "referenceAllele": "C",
          "start": 2154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "ENST00000679421.1:n.2155C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779052"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 970,
          "referenceAllele": "C",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "ENST00000679459.1:c.926C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506137.1:p.Thr309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779090"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 845,
          "referenceAllele": "C",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "ENST00000679478.1:c.656C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506484.1:p.Thr219="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779109"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 729,
          "referenceAllele": "C",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "ENST00000679639.1:n.729C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779267"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 927,
          "referenceAllele": "C",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "ENST00000679994.1:c.656C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504957.1:p.Thr219="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779616"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2290,
          "referenceAllele": "C",
          "start": 2289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "ENST00000680028.1:n.2290C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779649"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 697,
          "referenceAllele": "C",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "ENST00000680155.1:c.656C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505333.1:p.Thr219="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779775"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 970,
          "referenceAllele": "C",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "ENST00000680705.1:n.970C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780320"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 970,
          "referenceAllele": "C",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "ENST00000680770.1:c.926C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505536.1:p.Thr309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780385"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 960,
          "referenceAllele": "C",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "ENST00000680893.1:c.*174C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505929.1:n.*174C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780507"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 956,
          "referenceAllele": "C",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "ENST00000680910.1:n.956C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780524"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 729,
          "referenceAllele": "C",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "ENST00000681028.1:c.656C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506323.1:p.Thr219="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780641"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1072,
          "referenceAllele": "C",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "ENST00000681032.1:c.*304C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505205.1:n.*304C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 750,
          "referenceAllele": "C",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "ENST00000681449.1:c.656C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505342.1:p.Thr219="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781056"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 956,
          "referenceAllele": "C",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "ENST00000681565.1:c.926C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505620.1:p.Thr309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781171"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1108,
          "referenceAllele": "C",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "ENST00000681752.1:c.*696C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504994.1:n.*696C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781355"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4670,
          "referenceAllele": "C",
          "start": 4669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "ENST00000681891.1:n.4670C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781491"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1072,
          "referenceAllele": "C",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "ENST00000264167.8:c.926C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264167.4:p.Thr309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251434"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 372,
          "endIntronDirection": "+",
          "endIntronOffset": 41590,
          "referenceAllele": "C",
          "start": 372,
          "startIntronDirection": "+",
          "startIntronOffset": 41589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "ENST00000409888.1:c.350+41590C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386688.1:n.350+41590C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281937"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829463981",
      "coordinates": [
        {
          "allele": "C",
          "end": 973,
          "referenceAllele": "C",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "NM_003659.3:c.926C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003650.1:p.Thr309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028888"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 750,
          "referenceAllele": "C",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "XM_011512041.1:c.656C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510343.1:p.Thr219="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079300"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 922,
          "referenceAllele": "C",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "XM_011512042.1:c.656C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510344.1:p.Thr219="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 475,
          "referenceAllele": "C",
          "start": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "XM_011512043.1:c.191C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510345.1:p.Thr64="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079302"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 939,
          "referenceAllele": "C",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "XM_011512044.1:c.926C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510346.1:p.Thr309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079303"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 939,
          "referenceAllele": "C",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "XM_011512045.1:c.926C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510347.1:p.Thr309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 755,
          "referenceAllele": "C",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "XM_011512041.2:c.656C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510343.1:p.Thr219="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542393"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1559,
          "referenceAllele": "C",
          "start": 1558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "XM_011512043.2:c.191C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510345.1:p.Thr64="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542394"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 943,
          "referenceAllele": "C",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "XR_001739007.2:n.943C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589420"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829463981",
      "coordinates": [
        {
          "allele": "C",
          "end": 943,
          "referenceAllele": "C",
          "start": 942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "NM_003659.4:c.926C="
      ],
      "proteinEffect": {
        "hgvs": "NP_003650.1:p.Thr309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666124",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264167.11:c.926C="
          },
          "RefSeq": {
            "hgvs": "NM_003659.4:c.926C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264167.4:p.Thr309="
          },
          "RefSeq": {
            "hgvs": "NP_003650.1:p.Thr309="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}