{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8815685",
  "communityStandardTitle": [
    "NM_000152.5(GAA):c.2319C>T (p.Tyr773=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM5672665"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=340686[alleleid]",
        "alleleId": 340686,
        "preferredName": "NM_000152.5(GAA):c.2319C>T (p.Tyr773=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/325792",
        "RCV": [
          "RCV000385517",
          "RCV001706520",
          "RCV002446586"
        ],
        "variationId": 325792
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-78090896-C-T",
        "id": "17-78090896-C-T",
        "variant": "17:78090896 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78090896C>T?assembly=hg19",
        "id": "chr17:g.78090896C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.80117097C>T?assembly=hg38",
        "id": "chr17:g.80117097C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/377402848",
        "rs": 377402848
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-78090896-C-T?dataset=gnomad_r2_1",
        "id": "17-78090896-C-T",
        "variant": "17:78090896 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80117097-C-T?dataset=gnomad_r3",
        "id": "17-80117097-C-T",
        "variant": "17:80117097 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80117097-C-T?dataset=gnomad_r4",
        "id": "17-80117097-C-T",
        "variant": "17:80117097 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 80117097,
          "referenceAllele": "C",
          "start": 80117096
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80117097C>T",
        "CM000679.2:g.80117097C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 78090896,
          "referenceAllele": "C",
          "start": 78090895
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78090896C>T",
        "CM000679.1:g.78090896C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 75705491,
          "referenceAllele": "C",
          "start": 75705490
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75705491C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 20542,
          "referenceAllele": "C",
          "start": 20541
        }
      ],
      "hgvs": [
        "NG_009822.1:g.20542C>T",
        "LRG_673:g.20542C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001659"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2444,
          "referenceAllele": "C",
          "start": 2443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.6:c.2319C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.2:p.Tyr773="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2505,
          "referenceAllele": "C",
          "start": 2504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.2:c.*457C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459972.2:n.*457C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2516,
          "referenceAllele": "C",
          "start": 2515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000577106.6:c.2319C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458306.2:p.Tyr773="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2661,
          "referenceAllele": "C",
          "start": 2660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.8:c.2319C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Tyr773="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.2319C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.2319C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Tyr773="
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Tyr773="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2538,
          "referenceAllele": "C",
          "start": 2537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.7:c.2319C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Tyr773="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2463,
          "referenceAllele": "C",
          "start": 2462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000390015.7:c.2319C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374665.3:p.Tyr773="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 272,
          "referenceAllele": "C",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000573556.1:n.272C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383335"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825066363",
      "coordinates": [
        {
          "allele": "T",
          "end": 2686,
          "referenceAllele": "C",
          "start": 2685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.3:c.2319C>T",
        "LRG_673t1:c.2319C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Tyr773="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825462919",
      "coordinates": [
        {
          "allele": "T",
          "end": 2501,
          "referenceAllele": "C",
          "start": 2500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.1:c.2319C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Tyr773="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825443782",
      "coordinates": [
        {
          "allele": "T",
          "end": 2421,
          "referenceAllele": "C",
          "start": 2420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.1:c.2319C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Tyr773="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2532,
          "referenceAllele": "C",
          "start": 2531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.1:c.2319C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Tyr773="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2561,
          "referenceAllele": "C",
          "start": 2560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.3:c.2319C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Tyr773="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825066363",
      "coordinates": [
        {
          "allele": "T",
          "end": 2716,
          "referenceAllele": "C",
          "start": 2715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.4:c.2319C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Tyr773="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510756"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825462919",
      "coordinates": [
        {
          "allele": "T",
          "end": 2531,
          "referenceAllele": "C",
          "start": 2530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.2:c.2319C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Tyr773="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825443782",
      "coordinates": [
        {
          "allele": "T",
          "end": 2451,
          "referenceAllele": "C",
          "start": 2450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.2:c.2319C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Tyr773="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2517,
          "referenceAllele": "C",
          "start": 2516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.2:c.2319C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Tyr773="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534619"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2557,
          "referenceAllele": "C",
          "start": 2556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.4:c.2319C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Tyr773="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825066363",
      "coordinates": [
        {
          "allele": "T",
          "end": 2661,
          "referenceAllele": "C",
          "start": 2660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.5:c.2319C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Tyr773="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662328",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.2319C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.2319C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Tyr773="
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Tyr773="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825462919",
      "coordinates": [
        {
          "allele": "T",
          "end": 2476,
          "referenceAllele": "C",
          "start": 2475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.3:c.2319C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Tyr773="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825443782",
      "coordinates": [
        {
          "allele": "T",
          "end": 2396,
          "referenceAllele": "C",
          "start": 2395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.3:c.2319C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Tyr773="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676220"
    }
  ],
  "type": "nucleotide"
}