{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2277811293",
  "communityStandardTitle": [
    "NM_000152.5(GAA):c.681C= (p.Asp227=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/780515378",
        "rs": 780515378
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2510350970",
        "rs": 2510350970
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 80105883,
          "referenceAllele": "C",
          "start": 80105882
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80105883C=",
        "CM000679.2:g.80105883C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 78079682,
          "referenceAllele": "C",
          "start": 78079681
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78079682C=",
        "CM000679.1:g.78079682C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 75694277,
          "referenceAllele": "C",
          "start": 75694276
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75694277C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9328,
          "referenceAllele": "C",
          "start": 9327
        }
      ],
      "hgvs": [
        "NG_009822.1:g.9328C=",
        "LRG_673:g.9328C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001659"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 806,
          "referenceAllele": "C",
          "start": 805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.6:c.681C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.2:p.Asp227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914319"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 836,
          "referenceAllele": "C",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.2:c.681C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459972.2:p.Asp227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000577106.6:c.681C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458306.2:p.Asp227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914323"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1023,
          "referenceAllele": "C",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.8:c.681C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Asp227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.681C="
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.681C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Asp227="
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Asp227="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 900,
          "referenceAllele": "C",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.7:c.681C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Asp227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255143"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 825,
          "referenceAllele": "C",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000390015.7:c.681C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374665.3:p.Asp227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274344"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 783,
          "referenceAllele": "C",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.5:c.681C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.1:p.Asp227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382243"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825065200",
      "coordinates": [
        {
          "allele": "C",
          "end": 1048,
          "referenceAllele": "C",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.3:c.681C=",
        "LRG_673t1:c.681C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Asp227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825460359",
      "coordinates": [
        {
          "allele": "C",
          "end": 863,
          "referenceAllele": "C",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.1:c.681C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Asp227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825464328",
      "coordinates": [
        {
          "allele": "C",
          "end": 783,
          "referenceAllele": "C",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.1:c.681C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Asp227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010089"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 894,
          "referenceAllele": "C",
          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.1:c.681C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Asp227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 923,
          "referenceAllele": "C",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.3:c.681C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Asp227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825065200",
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "C",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.4:c.681C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Asp227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510756"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825460359",
      "coordinates": [
        {
          "allele": "C",
          "end": 893,
          "referenceAllele": "C",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.2:c.681C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Asp227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825464328",
      "coordinates": [
        {
          "allele": "C",
          "end": 813,
          "referenceAllele": "C",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.2:c.681C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Asp227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511219"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 879,
          "referenceAllele": "C",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.2:c.681C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Asp227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534619"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 919,
          "referenceAllele": "C",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.4:c.681C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Asp227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825065200",
      "coordinates": [
        {
          "allele": "C",
          "end": 1023,
          "referenceAllele": "C",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.5:c.681C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Asp227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662328",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.681C="
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.681C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Asp227="
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Asp227="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825460359",
      "coordinates": [
        {
          "allele": "C",
          "end": 838,
          "referenceAllele": "C",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.3:c.681C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Asp227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825464328",
      "coordinates": [
        {
          "allele": "C",
          "end": 758,
          "referenceAllele": "C",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.3:c.681C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Asp227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676220"
    }
  ],
  "type": "nucleotide"
}