{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA116598",
  "communityStandardTitle": [
    "NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4757866",
        "active": true,
        "id": "COSM4757866"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19063[alleleid]",
        "alleleId": 19063,
        "preferredName": "NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4024",
        "RCV": [
          "RCV000004239",
          "RCV000169045",
          "RCV001569366"
        ],
        "variationId": 4024
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-78087149-C-T",
        "id": "17-78087149-C-T",
        "variant": "17:78087149 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78087149C>T?assembly=hg19",
        "id": "chr17:g.78087149C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.80113350C>T?assembly=hg38",
        "id": "chr17:g.80113350C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121907938",
        "rs": 121907938
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-78087149-C-T?dataset=gnomad_r2_1",
        "id": "17-78087149-C-T",
        "variant": "17:78087149 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80113350-C-T?dataset=gnomad_r4",
        "id": "17-80113350-C-T",
        "variant": "17:80113350 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 80113350,
          "referenceAllele": "C",
          "start": 80113349
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80113350C>T",
        "CM000679.2:g.80113350C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 78087149,
          "referenceAllele": "C",
          "start": 78087148
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78087149C>T",
        "CM000679.1:g.78087149C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 75701744,
          "referenceAllele": "C",
          "start": 75701743
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75701744C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16795,
          "referenceAllele": "C",
          "start": 16794
        }
      ],
      "hgvs": [
        "NG_009822.1:g.16795C>T",
        "LRG_673:g.16795C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001659"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2298,
          "referenceAllele": "C",
          "start": 2297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.6:c.2173C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.2:p.Arg725Trp",
        "hgvsWellDefined": "ENSP00000460543.2:p.Arg725Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2359,
          "referenceAllele": "C",
          "start": 2358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.2:c.*311C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459972.2:n.*311C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2370,
          "referenceAllele": "C",
          "start": 2369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000577106.6:c.2173C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458306.2:p.Arg725Trp",
        "hgvsWellDefined": "ENSP00000458306.2:p.Arg725Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2515,
          "referenceAllele": "C",
          "start": 2514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.8:c.2173C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Arg725Trp",
        "hgvsWellDefined": "ENSP00000305692.3:p.Arg725Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.2173C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.2173C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Arg725Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Arg725Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2392,
          "referenceAllele": "C",
          "start": 2391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.7:c.2173C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Arg725Trp",
        "hgvsWellDefined": "ENSP00000305692.3:p.Arg725Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2317,
          "referenceAllele": "C",
          "start": 2316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000390015.7:c.2173C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374665.3:p.Arg725Trp",
        "hgvsWellDefined": "ENSP00000374665.3:p.Arg725Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 592,
          "referenceAllele": "C",
          "start": 591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.1:c.592C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382771"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112969",
      "coordinates": [
        {
          "allele": "T",
          "end": 2540,
          "referenceAllele": "C",
          "start": 2539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.3:c.2173C>T",
        "LRG_673t1:c.2173C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Arg725Trp",
        "hgvsWellDefined": "NP_000143.2:p.Arg725Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA116600",
      "coordinates": [
        {
          "allele": "T",
          "end": 2355,
          "referenceAllele": "C",
          "start": 2354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.1:c.2173C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Arg725Trp",
        "hgvsWellDefined": "NP_001073271.1:p.Arg725Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915964841",
      "coordinates": [
        {
          "allele": "T",
          "end": 2275,
          "referenceAllele": "C",
          "start": 2274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.1:c.2173C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Arg725Trp",
        "hgvsWellDefined": "NP_001073272.1:p.Arg725Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2386,
          "referenceAllele": "C",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.1:c.2173C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Arg725Trp",
        "hgvsWellDefined": "XP_005257250.1:p.Arg725Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2415,
          "referenceAllele": "C",
          "start": 2414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.3:c.2173C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Arg725Trp",
        "hgvsWellDefined": "XP_005257251.1:p.Arg725Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112969",
      "coordinates": [
        {
          "allele": "T",
          "end": 2570,
          "referenceAllele": "C",
          "start": 2569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.4:c.2173C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Arg725Trp",
        "hgvsWellDefined": "NP_000143.2:p.Arg725Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510756"
    },
    {
      "@id": "http://reg.genome.network/allele/PA116600",
      "coordinates": [
        {
          "allele": "T",
          "end": 2385,
          "referenceAllele": "C",
          "start": 2384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.2:c.2173C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Arg725Trp",
        "hgvsWellDefined": "NP_001073271.1:p.Arg725Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915964841",
      "coordinates": [
        {
          "allele": "T",
          "end": 2305,
          "referenceAllele": "C",
          "start": 2304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.2:c.2173C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Arg725Trp",
        "hgvsWellDefined": "NP_001073272.1:p.Arg725Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2371,
          "referenceAllele": "C",
          "start": 2370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.2:c.2173C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Arg725Trp",
        "hgvsWellDefined": "XP_005257250.1:p.Arg725Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534619"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2411,
          "referenceAllele": "C",
          "start": 2410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.4:c.2173C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Arg725Trp",
        "hgvsWellDefined": "XP_005257251.1:p.Arg725Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112969",
      "coordinates": [
        {
          "allele": "T",
          "end": 2515,
          "referenceAllele": "C",
          "start": 2514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.5:c.2173C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Arg725Trp",
        "hgvsWellDefined": "NP_000143.2:p.Arg725Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662328",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.2173C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.2173C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Arg725Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Arg725Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA116600",
      "coordinates": [
        {
          "allele": "T",
          "end": 2330,
          "referenceAllele": "C",
          "start": 2329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.3:c.2173C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Arg725Trp",
        "hgvsWellDefined": "NP_001073271.1:p.Arg725Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915964841",
      "coordinates": [
        {
          "allele": "T",
          "end": 2250,
          "referenceAllele": "C",
          "start": 2249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.3:c.2173C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Arg725Trp",
        "hgvsWellDefined": "NP_001073272.1:p.Arg725Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676220"
    }
  ],
  "type": "nucleotide"
}