{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8815497",
  "communityStandardTitle": [
    "NM_000152.5(GAA):c.1842G>A (p.Thr614=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=273872[alleleid]",
        "alleleId": 273872,
        "preferredName": "NM_000152.5(GAA):c.1842G>A (p.Thr614=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/289635",
        "RCV": [
          "RCV000726353",
          "RCV000631085",
          "RCV002411175"
        ],
        "variationId": 289635
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-78086464-G-A",
        "id": "17-78086464-G-A",
        "variant": "17:78086464 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78086464G>A?assembly=hg19",
        "id": "chr17:g.78086464G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.80112665G>A?assembly=hg38",
        "id": "chr17:g.80112665G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/373955374",
        "rs": 373955374
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-78086464-G-A?dataset=gnomad_r2_1",
        "id": "17-78086464-G-A",
        "variant": "17:78086464 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80112665-G-A?dataset=gnomad_r3",
        "id": "17-80112665-G-A",
        "variant": "17:80112665 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80112665-G-A?dataset=gnomad_r4",
        "id": "17-80112665-G-A",
        "variant": "17:80112665 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 80112665,
          "referenceAllele": "G",
          "start": 80112664
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80112665G>A",
        "CM000679.2:g.80112665G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 78086464,
          "referenceAllele": "G",
          "start": 78086463
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78086464G>A",
        "CM000679.1:g.78086464G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 75701059,
          "referenceAllele": "G",
          "start": 75701058
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75701059G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16110,
          "referenceAllele": "G",
          "start": 16109
        }
      ],
      "hgvs": [
        "NG_009822.1:g.16110G>A",
        "LRG_673:g.16110G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001659"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1967,
          "referenceAllele": "G",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.6:c.1842G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.2:p.Thr614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914319"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1997,
          "referenceAllele": "G",
          "start": 1996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.2:c.1842G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459972.2:p.Thr614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2039,
          "referenceAllele": "G",
          "start": 2038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000577106.6:c.1842G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458306.2:p.Thr614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2184,
          "referenceAllele": "G",
          "start": 2183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.8:c.1842G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Thr614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.1842G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.1842G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Thr614="
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Thr614="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2061,
          "referenceAllele": "G",
          "start": 2060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.7:c.1842G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Thr614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255143"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1986,
          "referenceAllele": "G",
          "start": 1985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000390015.7:c.1842G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374665.3:p.Thr614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274344"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 282,
          "referenceAllele": "G",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570716.1:n.282G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382201"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 230,
          "referenceAllele": "G",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.1:c.230G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "referenceAllele": "G",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572803.1:n.456G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825066043",
      "coordinates": [
        {
          "allele": "A",
          "end": 2209,
          "referenceAllele": "G",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.3:c.1842G>A",
        "LRG_673t1:c.1842G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Thr614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825462166",
      "coordinates": [
        {
          "allele": "A",
          "end": 2024,
          "referenceAllele": "G",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.1:c.1842G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Thr614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825443148",
      "coordinates": [
        {
          "allele": "A",
          "end": 1944,
          "referenceAllele": "G",
          "start": 1943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.1:c.1842G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Thr614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2055,
          "referenceAllele": "G",
          "start": 2054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.1:c.1842G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Thr614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2084,
          "referenceAllele": "G",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.3:c.1842G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Thr614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825066043",
      "coordinates": [
        {
          "allele": "A",
          "end": 2239,
          "referenceAllele": "G",
          "start": 2238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.4:c.1842G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Thr614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510756"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825462166",
      "coordinates": [
        {
          "allele": "A",
          "end": 2054,
          "referenceAllele": "G",
          "start": 2053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.2:c.1842G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Thr614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825443148",
      "coordinates": [
        {
          "allele": "A",
          "end": 1974,
          "referenceAllele": "G",
          "start": 1973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.2:c.1842G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Thr614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2040,
          "referenceAllele": "G",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.2:c.1842G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Thr614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534619"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2080,
          "referenceAllele": "G",
          "start": 2079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.4:c.1842G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Thr614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825066043",
      "coordinates": [
        {
          "allele": "A",
          "end": 2184,
          "referenceAllele": "G",
          "start": 2183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.5:c.1842G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Thr614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662328",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.1842G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.1842G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Thr614="
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Thr614="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825462166",
      "coordinates": [
        {
          "allele": "A",
          "end": 1999,
          "referenceAllele": "G",
          "start": 1998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.3:c.1842G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Thr614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825443148",
      "coordinates": [
        {
          "allele": "A",
          "end": 1919,
          "referenceAllele": "G",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.3:c.1842G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Thr614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676220"
    }
  ],
  "type": "nucleotide"
}