{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2277810619",
  "communityStandardTitle": [
    "NM_000152.5(GAA):c.169C= (p.Gln57=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516251",
        "rs": 1057516251
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 80104755,
          "referenceAllele": "C",
          "start": 80104754
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80104755C=",
        "CM000679.2:g.80104755C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 78078554,
          "referenceAllele": "C",
          "start": 78078553
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78078554C=",
        "CM000679.1:g.78078554C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 75693149,
          "referenceAllele": "C",
          "start": 75693148
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75693149C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8200,
          "referenceAllele": "C",
          "start": 8199
        }
      ],
      "hgvs": [
        "NG_009822.1:g.8200C=",
        "LRG_673:g.8200C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001659"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 294,
          "referenceAllele": "C",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.6:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.2:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914319"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 324,
          "referenceAllele": "C",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.2:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459972.2:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 366,
          "referenceAllele": "C",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000577106.6:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458306.2:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914323"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 511,
          "referenceAllele": "C",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.8:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.169C="
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.169C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Gln57="
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Gln57="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 388,
          "referenceAllele": "C",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.7:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255143"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 313,
          "referenceAllele": "C",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000390015.7:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374665.3:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274344"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 271,
          "referenceAllele": "C",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.5:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.1:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382243"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 355,
          "referenceAllele": "C",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000577106.5:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458306.1:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384722"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084559094",
      "coordinates": [
        {
          "allele": "C",
          "end": 536,
          "referenceAllele": "C",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.3:c.169C=",
        "LRG_673t1:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 351,
          "referenceAllele": "C",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.1:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010088"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 271,
          "referenceAllele": "C",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.1:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010089"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 382,
          "referenceAllele": "C",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.1:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 411,
          "referenceAllele": "C",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.3:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084559094",
      "coordinates": [
        {
          "allele": "C",
          "end": 566,
          "referenceAllele": "C",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.4:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.2:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511218"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 301,
          "referenceAllele": "C",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.2:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511219"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 367,
          "referenceAllele": "C",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.2:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534619"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 407,
          "referenceAllele": "C",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.4:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3084559094",
      "coordinates": [
        {
          "allele": "C",
          "end": 511,
          "referenceAllele": "C",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.5:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662328",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.169C="
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.169C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Gln57="
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Gln57="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 326,
          "referenceAllele": "C",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.3:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676219"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 246,
          "referenceAllele": "C",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.3:c.169C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Gln57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676220"
    }
  ],
  "type": "nucleotide"
}