{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA116590",
  "communityStandardTitle": [
    "NM_000152.5(GAA):c.953T>C (p.Met318Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19060[alleleid]",
        "alleleId": 19060,
        "preferredName": "NM_000152.5(GAA):c.953T>C (p.Met318Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4021",
        "RCV": [
          "RCV000004236",
          "RCV000727662",
          "RCV000780268"
        ],
        "variationId": 4021
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-78081693-T-C",
        "id": "17-78081693-T-C",
        "variant": "17:78081693 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78081693T>C?assembly=hg19",
        "id": "chr17:g.78081693T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.80107894T>C?assembly=hg38",
        "id": "chr17:g.80107894T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121907936",
        "rs": 121907936
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-78081693-T-C?dataset=gnomad_r2_1",
        "id": "17-78081693-T-C",
        "variant": "17:78081693 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80107894-T-C?dataset=gnomad_r3",
        "id": "17-80107894-T-C",
        "variant": "17:80107894 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80107894-T-C?dataset=gnomad_r4",
        "id": "17-80107894-T-C",
        "variant": "17:80107894 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 80107894,
          "referenceAllele": "T",
          "start": 80107893
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80107894T>C",
        "CM000679.2:g.80107894T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 78081693,
          "referenceAllele": "T",
          "start": 78081692
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78081693T>C",
        "CM000679.1:g.78081693T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 75696288,
          "referenceAllele": "T",
          "start": 75696287
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75696288T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11339,
          "referenceAllele": "T",
          "start": 11338
        }
      ],
      "hgvs": [
        "NG_009822.1:g.11339T>C",
        "LRG_673:g.11339T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001659"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1078,
          "referenceAllele": "T",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.6:c.953T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.2:p.Met318Thr",
        "hgvsWellDefined": "ENSP00000460543.2:p.Met318Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914319"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1108,
          "referenceAllele": "T",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.2:c.953T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459972.2:p.Met318Thr",
        "hgvsWellDefined": "ENSP00000459972.2:p.Met318Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1150,
          "referenceAllele": "T",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000577106.6:c.953T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458306.2:p.Met318Thr",
        "hgvsWellDefined": "ENSP00000458306.2:p.Met318Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914323"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1295,
          "referenceAllele": "T",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.8:c.953T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Met318Thr",
        "hgvsWellDefined": "ENSP00000305692.3:p.Met318Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.953T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.953T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Met318Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Met318Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1172,
          "referenceAllele": "T",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.7:c.953T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Met318Thr",
        "hgvsWellDefined": "ENSP00000305692.3:p.Met318Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255143"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1097,
          "referenceAllele": "T",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000390015.7:c.953T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374665.3:p.Met318Thr",
        "hgvsWellDefined": "ENSP00000374665.3:p.Met318Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274344"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113532",
      "coordinates": [
        {
          "allele": "C",
          "end": 1320,
          "referenceAllele": "T",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.3:c.953T>C",
        "LRG_673t1:c.953T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Met318Thr",
        "hgvsWellDefined": "NP_000143.2:p.Met318Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA116592",
      "coordinates": [
        {
          "allele": "C",
          "end": 1135,
          "referenceAllele": "T",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.1:c.953T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Met318Thr",
        "hgvsWellDefined": "NP_001073271.1:p.Met318Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915964495",
      "coordinates": [
        {
          "allele": "C",
          "end": 1055,
          "referenceAllele": "T",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.1:c.953T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Met318Thr",
        "hgvsWellDefined": "NP_001073272.1:p.Met318Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010089"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1166,
          "referenceAllele": "T",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.1:c.953T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Met318Thr",
        "hgvsWellDefined": "XP_005257250.1:p.Met318Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1195,
          "referenceAllele": "T",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.3:c.953T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Met318Thr",
        "hgvsWellDefined": "XP_005257251.1:p.Met318Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113532",
      "coordinates": [
        {
          "allele": "C",
          "end": 1350,
          "referenceAllele": "T",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.4:c.953T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Met318Thr",
        "hgvsWellDefined": "NP_000143.2:p.Met318Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510756"
    },
    {
      "@id": "http://reg.genome.network/allele/PA116592",
      "coordinates": [
        {
          "allele": "C",
          "end": 1165,
          "referenceAllele": "T",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.2:c.953T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Met318Thr",
        "hgvsWellDefined": "NP_001073271.1:p.Met318Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915964495",
      "coordinates": [
        {
          "allele": "C",
          "end": 1085,
          "referenceAllele": "T",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.2:c.953T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Met318Thr",
        "hgvsWellDefined": "NP_001073272.1:p.Met318Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511219"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1151,
          "referenceAllele": "T",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.2:c.953T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Met318Thr",
        "hgvsWellDefined": "XP_005257250.1:p.Met318Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534619"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1191,
          "referenceAllele": "T",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.4:c.953T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Met318Thr",
        "hgvsWellDefined": "XP_005257251.1:p.Met318Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA113532",
      "coordinates": [
        {
          "allele": "C",
          "end": 1295,
          "referenceAllele": "T",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.5:c.953T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Met318Thr",
        "hgvsWellDefined": "NP_000143.2:p.Met318Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662328",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.953T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.953T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Met318Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Met318Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA116592",
      "coordinates": [
        {
          "allele": "C",
          "end": 1110,
          "referenceAllele": "T",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.3:c.953T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Met318Thr",
        "hgvsWellDefined": "NP_001073271.1:p.Met318Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915964495",
      "coordinates": [
        {
          "allele": "C",
          "end": 1030,
          "referenceAllele": "T",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.3:c.953T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Met318Thr",
        "hgvsWellDefined": "NP_001073272.1:p.Met318Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676220"
    }
  ],
  "type": "nucleotide"
}