{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401324731",
  "communityStandardTitle": [
    "NM_000152.5(GAA):c.2216C>G (p.Thr739Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78090793C>G?assembly=hg19",
        "id": "chr17:g.78090793C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.80116994C>G?assembly=hg38",
        "id": "chr17:g.80116994C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 80116994,
          "referenceAllele": "C",
          "start": 80116993
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80116994C>G",
        "CM000679.2:g.80116994C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 78090793,
          "referenceAllele": "C",
          "start": 78090792
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78090793C>G",
        "CM000679.1:g.78090793C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 75705388,
          "referenceAllele": "C",
          "start": 75705387
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75705388C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20439,
          "referenceAllele": "C",
          "start": 20438
        }
      ],
      "hgvs": [
        "NG_009822.1:g.20439C>G",
        "LRG_673:g.20439C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001659"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2341,
          "referenceAllele": "C",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.6:c.2216C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.2:p.Thr739Ser",
        "hgvsWellDefined": "ENSP00000460543.2:p.Thr739Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914319"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2402,
          "referenceAllele": "C",
          "start": 2401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.2:c.*354C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459972.2:n.*354C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914321"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2413,
          "referenceAllele": "C",
          "start": 2412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000577106.6:c.2216C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458306.2:p.Thr739Ser",
        "hgvsWellDefined": "ENSP00000458306.2:p.Thr739Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914323"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2558,
          "referenceAllele": "C",
          "start": 2557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.8:c.2216C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Thr739Ser",
        "hgvsWellDefined": "ENSP00000305692.3:p.Thr739Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.2216C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.2216C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Thr739Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Thr739Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2435,
          "referenceAllele": "C",
          "start": 2434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.7:c.2216C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Thr739Ser",
        "hgvsWellDefined": "ENSP00000305692.3:p.Thr739Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2360,
          "referenceAllele": "C",
          "start": 2359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000390015.7:c.2216C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374665.3:p.Thr739Ser",
        "hgvsWellDefined": "ENSP00000374665.3:p.Thr739Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274344"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 635,
          "referenceAllele": "C",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.1:c.635C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382771"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 169,
          "referenceAllele": "C",
          "start": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000573556.1:n.169C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383335"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658674406",
      "coordinates": [
        {
          "allele": "G",
          "end": 2583,
          "referenceAllele": "C",
          "start": 2582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.3:c.2216C>G",
        "LRG_673t1:c.2216C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Thr739Ser",
        "hgvsWellDefined": "NP_000143.2:p.Thr739Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825462774",
      "coordinates": [
        {
          "allele": "G",
          "end": 2398,
          "referenceAllele": "C",
          "start": 2397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.1:c.2216C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Thr739Ser",
        "hgvsWellDefined": "NP_001073271.1:p.Thr739Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915964849",
      "coordinates": [
        {
          "allele": "G",
          "end": 2318,
          "referenceAllele": "C",
          "start": 2317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.1:c.2216C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Thr739Ser",
        "hgvsWellDefined": "NP_001073272.1:p.Thr739Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010089"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2429,
          "referenceAllele": "C",
          "start": 2428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.1:c.2216C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Thr739Ser",
        "hgvsWellDefined": "XP_005257250.1:p.Thr739Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061613"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2458,
          "referenceAllele": "C",
          "start": 2457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.3:c.2216C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Thr739Ser",
        "hgvsWellDefined": "XP_005257251.1:p.Thr739Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658674406",
      "coordinates": [
        {
          "allele": "G",
          "end": 2613,
          "referenceAllele": "C",
          "start": 2612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.4:c.2216C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Thr739Ser",
        "hgvsWellDefined": "NP_000143.2:p.Thr739Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510756"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825462774",
      "coordinates": [
        {
          "allele": "G",
          "end": 2428,
          "referenceAllele": "C",
          "start": 2427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.2:c.2216C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Thr739Ser",
        "hgvsWellDefined": "NP_001073271.1:p.Thr739Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915964849",
      "coordinates": [
        {
          "allele": "G",
          "end": 2348,
          "referenceAllele": "C",
          "start": 2347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.2:c.2216C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Thr739Ser",
        "hgvsWellDefined": "NP_001073272.1:p.Thr739Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511219"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2414,
          "referenceAllele": "C",
          "start": 2413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.2:c.2216C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Thr739Ser",
        "hgvsWellDefined": "XP_005257250.1:p.Thr739Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534619"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2454,
          "referenceAllele": "C",
          "start": 2453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.4:c.2216C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Thr739Ser",
        "hgvsWellDefined": "XP_005257251.1:p.Thr739Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658674406",
      "coordinates": [
        {
          "allele": "G",
          "end": 2558,
          "referenceAllele": "C",
          "start": 2557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.5:c.2216C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Thr739Ser",
        "hgvsWellDefined": "NP_000143.2:p.Thr739Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662328",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.2216C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.2216C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Thr739Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Thr739Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825462774",
      "coordinates": [
        {
          "allele": "G",
          "end": 2373,
          "referenceAllele": "C",
          "start": 2372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.3:c.2216C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Thr739Ser",
        "hgvsWellDefined": "NP_001073271.1:p.Thr739Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915964849",
      "coordinates": [
        {
          "allele": "G",
          "end": 2293,
          "referenceAllele": "C",
          "start": 2292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.3:c.2216C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Thr739Ser",
        "hgvsWellDefined": "NP_001073272.1:p.Thr739Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676220"
    }
  ],
  "type": "nucleotide"
}