{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8815724",
  "communityStandardTitle": [
    "NM_000152.5(GAA):c.2391C>T (p.Ala797=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=266625[alleleid]",
        "alleleId": 266625,
        "preferredName": "NM_000152.5(GAA):c.2391C>T (p.Ala797=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/282388",
        "RCV": [
          "RCV000276337",
          "RCV001393526",
          "RCV003165725",
          "RCV003982981"
        ],
        "variationId": 282388
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-78091458-C-T",
        "id": "17-78091458-C-T",
        "variant": "17:78091458 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78091458C>T?assembly=hg19",
        "id": "chr17:g.78091458C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.80117659C>T?assembly=hg38",
        "id": "chr17:g.80117659C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/767494597",
        "rs": 767494597
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-78091458-C-T?dataset=gnomad_r2_1",
        "id": "17-78091458-C-T",
        "variant": "17:78091458 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80117659-C-T?dataset=gnomad_r3",
        "id": "17-80117659-C-T",
        "variant": "17:80117659 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80117659-C-T?dataset=gnomad_r4",
        "id": "17-80117659-C-T",
        "variant": "17:80117659 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 80117659,
          "referenceAllele": "C",
          "start": 80117658
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80117659C>T",
        "CM000679.2:g.80117659C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 78091458,
          "referenceAllele": "C",
          "start": 78091457
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78091458C>T",
        "CM000679.1:g.78091458C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 75706053,
          "referenceAllele": "C",
          "start": 75706052
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75706053C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21104,
          "referenceAllele": "C",
          "start": 21103
        }
      ],
      "hgvs": [
        "NG_009822.1:g.21104C>T",
        "LRG_673:g.21104C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001659"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2516,
          "referenceAllele": "C",
          "start": 2515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.6:c.2391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.2:p.Ala797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2577,
          "referenceAllele": "C",
          "start": 2576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.2:c.*529C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459972.2:n.*529C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2588,
          "referenceAllele": "C",
          "start": 2587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000577106.6:c.2391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458306.2:p.Ala797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2733,
          "referenceAllele": "C",
          "start": 2732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.8:c.2391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Ala797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.2391C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.2391C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Ala797="
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Ala797="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2610,
          "referenceAllele": "C",
          "start": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.7:c.2391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Ala797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2535,
          "referenceAllele": "C",
          "start": 2534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000390015.7:c.2391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374665.3:p.Ala797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 344,
          "referenceAllele": "C",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000573556.1:n.344C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383335"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825066401",
      "coordinates": [
        {
          "allele": "T",
          "end": 2758,
          "referenceAllele": "C",
          "start": 2757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.3:c.2391C>T",
        "LRG_673t1:c.2391C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Ala797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825463037",
      "coordinates": [
        {
          "allele": "T",
          "end": 2573,
          "referenceAllele": "C",
          "start": 2572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.1:c.2391C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Ala797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825443826",
      "coordinates": [
        {
          "allele": "T",
          "end": 2493,
          "referenceAllele": "C",
          "start": 2492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.1:c.2391C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Ala797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2604,
          "referenceAllele": "C",
          "start": 2603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.1:c.2391C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Ala797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2633,
          "referenceAllele": "C",
          "start": 2632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.3:c.2391C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Ala797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825066401",
      "coordinates": [
        {
          "allele": "T",
          "end": 2788,
          "referenceAllele": "C",
          "start": 2787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.4:c.2391C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Ala797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510756"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825463037",
      "coordinates": [
        {
          "allele": "T",
          "end": 2603,
          "referenceAllele": "C",
          "start": 2602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.2:c.2391C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Ala797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825443826",
      "coordinates": [
        {
          "allele": "T",
          "end": 2523,
          "referenceAllele": "C",
          "start": 2522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.2:c.2391C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Ala797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2589,
          "referenceAllele": "C",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.2:c.2391C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Ala797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534619"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2629,
          "referenceAllele": "C",
          "start": 2628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.4:c.2391C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Ala797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825066401",
      "coordinates": [
        {
          "allele": "T",
          "end": 2733,
          "referenceAllele": "C",
          "start": 2732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.5:c.2391C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Ala797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662328",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.2391C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.2391C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Ala797="
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Ala797="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825463037",
      "coordinates": [
        {
          "allele": "T",
          "end": 2548,
          "referenceAllele": "C",
          "start": 2547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.3:c.2391C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Ala797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825443826",
      "coordinates": [
        {
          "allele": "T",
          "end": 2468,
          "referenceAllele": "C",
          "start": 2467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.3:c.2391C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Ala797="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676220"
    }
  ],
  "type": "nucleotide"
}