{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16607903",
  "communityStandardTitle": [
    "NM_000152.5(GAA):c.2316G>T (p.Trp772Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=376770[alleleid]",
        "alleleId": 376770,
        "preferredName": "NM_000152.5(GAA):c.2316G>T (p.Trp772Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/392862",
        "RCV": [
          "RCV000439307",
          "RCV000675111"
        ],
        "variationId": 392862
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78090893G>T?assembly=hg19",
        "id": "chr17:g.78090893G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.80117094G>T?assembly=hg38",
        "id": "chr17:g.80117094G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057524664",
        "rs": 1057524664
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80117094-G-T?dataset=gnomad_r4",
        "id": "17-80117094-G-T",
        "variant": "17:80117094 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 80117094,
          "referenceAllele": "G",
          "start": 80117093
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80117094G>T",
        "CM000679.2:g.80117094G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 78090893,
          "referenceAllele": "G",
          "start": 78090892
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78090893G>T",
        "CM000679.1:g.78090893G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 75705488,
          "referenceAllele": "G",
          "start": 75705487
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75705488G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 20539,
          "referenceAllele": "G",
          "start": 20538
        }
      ],
      "hgvs": [
        "NG_009822.1:g.20539G>T",
        "LRG_673:g.20539G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001659"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2441,
          "referenceAllele": "G",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.6:c.2316G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.2:p.Trp772Cys",
        "hgvsWellDefined": "ENSP00000460543.2:p.Trp772Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2502,
          "referenceAllele": "G",
          "start": 2501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.2:c.*454G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459972.2:n.*454G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2513,
          "referenceAllele": "G",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000577106.6:c.2316G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458306.2:p.Trp772Cys",
        "hgvsWellDefined": "ENSP00000458306.2:p.Trp772Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2658,
          "referenceAllele": "G",
          "start": 2657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.8:c.2316G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Trp772Cys",
        "hgvsWellDefined": "ENSP00000305692.3:p.Trp772Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.2316G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.2316G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Trp772Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Trp772Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2535,
          "referenceAllele": "G",
          "start": 2534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.7:c.2316G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Trp772Cys",
        "hgvsWellDefined": "ENSP00000305692.3:p.Trp772Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2460,
          "referenceAllele": "G",
          "start": 2459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000390015.7:c.2316G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374665.3:p.Trp772Cys",
        "hgvsWellDefined": "ENSP00000374665.3:p.Trp772Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 269,
          "referenceAllele": "G",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000573556.1:n.269G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383335"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645481957",
      "coordinates": [
        {
          "allele": "T",
          "end": 2683,
          "referenceAllele": "G",
          "start": 2682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.3:c.2316G>T",
        "LRG_673t1:c.2316G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Trp772Cys",
        "hgvsWellDefined": "NP_000143.2:p.Trp772Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825462915",
      "coordinates": [
        {
          "allele": "T",
          "end": 2498,
          "referenceAllele": "G",
          "start": 2497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.1:c.2316G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Trp772Cys",
        "hgvsWellDefined": "NP_001073271.1:p.Trp772Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915964879",
      "coordinates": [
        {
          "allele": "T",
          "end": 2418,
          "referenceAllele": "G",
          "start": 2417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.1:c.2316G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Trp772Cys",
        "hgvsWellDefined": "NP_001073272.1:p.Trp772Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2529,
          "referenceAllele": "G",
          "start": 2528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.1:c.2316G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Trp772Cys",
        "hgvsWellDefined": "XP_005257250.1:p.Trp772Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2558,
          "referenceAllele": "G",
          "start": 2557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.3:c.2316G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Trp772Cys",
        "hgvsWellDefined": "XP_005257251.1:p.Trp772Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645481957",
      "coordinates": [
        {
          "allele": "T",
          "end": 2713,
          "referenceAllele": "G",
          "start": 2712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.4:c.2316G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Trp772Cys",
        "hgvsWellDefined": "NP_000143.2:p.Trp772Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510756"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825462915",
      "coordinates": [
        {
          "allele": "T",
          "end": 2528,
          "referenceAllele": "G",
          "start": 2527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.2:c.2316G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Trp772Cys",
        "hgvsWellDefined": "NP_001073271.1:p.Trp772Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915964879",
      "coordinates": [
        {
          "allele": "T",
          "end": 2448,
          "referenceAllele": "G",
          "start": 2447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.2:c.2316G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Trp772Cys",
        "hgvsWellDefined": "NP_001073272.1:p.Trp772Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2514,
          "referenceAllele": "G",
          "start": 2513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.2:c.2316G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Trp772Cys",
        "hgvsWellDefined": "XP_005257250.1:p.Trp772Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534619"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.4:c.2316G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Trp772Cys",
        "hgvsWellDefined": "XP_005257251.1:p.Trp772Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645481957",
      "coordinates": [
        {
          "allele": "T",
          "end": 2658,
          "referenceAllele": "G",
          "start": 2657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.5:c.2316G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Trp772Cys",
        "hgvsWellDefined": "NP_000143.2:p.Trp772Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662328",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.2316G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.2316G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Trp772Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Trp772Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825462915",
      "coordinates": [
        {
          "allele": "T",
          "end": 2473,
          "referenceAllele": "G",
          "start": 2472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.3:c.2316G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Trp772Cys",
        "hgvsWellDefined": "NP_001073271.1:p.Trp772Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915964879",
      "coordinates": [
        {
          "allele": "T",
          "end": 2393,
          "referenceAllele": "G",
          "start": 2392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.3:c.2316G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Trp772Cys",
        "hgvsWellDefined": "NP_001073272.1:p.Trp772Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676220"
    }
  ],
  "type": "nucleotide"
}