{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401363854",
  "communityStandardTitle": [
    "NM_000152.5(GAA):c.872T>C (p.Leu291Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1318075[alleleid]",
        "alleleId": 1318075,
        "preferredName": "NM_000152.5(GAA):c.872T>C (p.Leu291Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1327502",
        "RCV": [
          "RCV001789730"
        ],
        "variationId": 1327502
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78081612T>C?assembly=hg19",
        "id": "chr17:g.78081612T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.80107813T>C?assembly=hg38",
        "id": "chr17:g.80107813T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2143849151",
        "rs": 2143849151
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80107813-T-C?dataset=gnomad_r4",
        "id": "17-80107813-T-C",
        "variant": "17:80107813 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 80107813,
          "referenceAllele": "T",
          "start": 80107812
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80107813T>C",
        "CM000679.2:g.80107813T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 78081612,
          "referenceAllele": "T",
          "start": 78081611
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78081612T>C",
        "CM000679.1:g.78081612T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 75696207,
          "referenceAllele": "T",
          "start": 75696206
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75696207T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11258,
          "referenceAllele": "T",
          "start": 11257
        }
      ],
      "hgvs": [
        "NG_009822.1:g.11258T>C",
        "LRG_673:g.11258T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001659"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 997,
          "referenceAllele": "T",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.6:c.872T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.2:p.Leu291Pro",
        "hgvsWellDefined": "ENSP00000460543.2:p.Leu291Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914319"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1027,
          "referenceAllele": "T",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.2:c.872T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459972.2:p.Leu291Pro",
        "hgvsWellDefined": "ENSP00000459972.2:p.Leu291Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1069,
          "referenceAllele": "T",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000577106.6:c.872T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458306.2:p.Leu291Pro",
        "hgvsWellDefined": "ENSP00000458306.2:p.Leu291Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914323"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913184896",
      "coordinates": [
        {
          "allele": "C",
          "end": 1214,
          "referenceAllele": "T",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.8:c.872T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Leu291Pro",
        "hgvsWellDefined": "ENSP00000305692.3:p.Leu291Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.872T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.872T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Leu291Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Leu291Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA913184896",
      "coordinates": [
        {
          "allele": "C",
          "end": 1091,
          "referenceAllele": "T",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.7:c.872T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Leu291Pro",
        "hgvsWellDefined": "ENSP00000305692.3:p.Leu291Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255143"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1016,
          "referenceAllele": "T",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000390015.7:c.872T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374665.3:p.Leu291Pro",
        "hgvsWellDefined": "ENSP00000374665.3:p.Leu291Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274344"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113457",
      "coordinates": [
        {
          "allele": "C",
          "end": 1239,
          "referenceAllele": "T",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.3:c.872T>C",
        "LRG_673t1:c.872T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Leu291Pro",
        "hgvsWellDefined": "NP_000143.2:p.Leu291Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825460692",
      "coordinates": [
        {
          "allele": "C",
          "end": 1054,
          "referenceAllele": "T",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.1:c.872T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Leu291Pro",
        "hgvsWellDefined": "NP_001073271.1:p.Leu291Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573064933",
      "coordinates": [
        {
          "allele": "C",
          "end": 974,
          "referenceAllele": "T",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.1:c.872T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Leu291Pro",
        "hgvsWellDefined": "NP_001073272.1:p.Leu291Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010089"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1085,
          "referenceAllele": "T",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.1:c.872T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Leu291Pro",
        "hgvsWellDefined": "XP_005257250.1:p.Leu291Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1114,
          "referenceAllele": "T",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.3:c.872T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Leu291Pro",
        "hgvsWellDefined": "XP_005257251.1:p.Leu291Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113457",
      "coordinates": [
        {
          "allele": "C",
          "end": 1269,
          "referenceAllele": "T",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.4:c.872T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Leu291Pro",
        "hgvsWellDefined": "NP_000143.2:p.Leu291Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510756"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825460692",
      "coordinates": [
        {
          "allele": "C",
          "end": 1084,
          "referenceAllele": "T",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.2:c.872T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Leu291Pro",
        "hgvsWellDefined": "NP_001073271.1:p.Leu291Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573064933",
      "coordinates": [
        {
          "allele": "C",
          "end": 1004,
          "referenceAllele": "T",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.2:c.872T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Leu291Pro",
        "hgvsWellDefined": "NP_001073272.1:p.Leu291Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511219"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1070,
          "referenceAllele": "T",
          "start": 1069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.2:c.872T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Leu291Pro",
        "hgvsWellDefined": "XP_005257250.1:p.Leu291Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534619"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1110,
          "referenceAllele": "T",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.4:c.872T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Leu291Pro",
        "hgvsWellDefined": "XP_005257251.1:p.Leu291Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113457",
      "coordinates": [
        {
          "allele": "C",
          "end": 1214,
          "referenceAllele": "T",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.5:c.872T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Leu291Pro",
        "hgvsWellDefined": "NP_000143.2:p.Leu291Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662328",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.872T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.872T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Leu291Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Leu291Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825460692",
      "coordinates": [
        {
          "allele": "C",
          "end": 1029,
          "referenceAllele": "T",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.3:c.872T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Leu291Pro",
        "hgvsWellDefined": "NP_001073271.1:p.Leu291Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573064933",
      "coordinates": [
        {
          "allele": "C",
          "end": 949,
          "referenceAllele": "T",
          "start": 948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.3:c.872T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Leu291Pro",
        "hgvsWellDefined": "NP_001073272.1:p.Leu291Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676220"
    }
  ],
  "type": "nucleotide"
}