{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401369029",
  "communityStandardTitle": [
    "NM_000152.5(GAA):c.1704C>G (p.His568Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=961123[alleleid]",
        "alleleId": 961123,
        "preferredName": "NM_000152.5(GAA):c.1704C>G (p.His568Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/972745",
        "RCV": [
          "RCV001248864"
        ],
        "variationId": 972745
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78085849C>G?assembly=hg19",
        "id": "chr17:g.78085849C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.80112050C>G?assembly=hg38",
        "id": "chr17:g.80112050C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/776882059",
        "rs": 776882059
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-78085849-C-G?dataset=gnomad_r2_1",
        "id": "17-78085849-C-G",
        "variant": "17:78085849 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80112050-C-G?dataset=gnomad_r4",
        "id": "17-80112050-C-G",
        "variant": "17:80112050 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 80112050,
          "referenceAllele": "C",
          "start": 80112049
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80112050C>G",
        "CM000679.2:g.80112050C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 78085849,
          "referenceAllele": "C",
          "start": 78085848
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78085849C>G",
        "CM000679.1:g.78085849C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 75700444,
          "referenceAllele": "C",
          "start": 75700443
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75700444C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15495,
          "referenceAllele": "C",
          "start": 15494
        }
      ],
      "hgvs": [
        "NG_009822.1:g.15495C>G",
        "LRG_673:g.15495C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001659"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1829,
          "referenceAllele": "C",
          "start": 1828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.6:c.1704C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.2:p.His568Gln",
        "hgvsWellDefined": "ENSP00000460543.2:p.His568Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914319"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1859,
          "referenceAllele": "C",
          "start": 1858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.2:c.1704C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459972.2:p.His568Gln",
        "hgvsWellDefined": "ENSP00000459972.2:p.His568Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914321"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1901,
          "referenceAllele": "C",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000577106.6:c.1704C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458306.2:p.His568Gln",
        "hgvsWellDefined": "ENSP00000458306.2:p.His568Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914323"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2046,
          "referenceAllele": "C",
          "start": 2045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.8:c.1704C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.His568Gln",
        "hgvsWellDefined": "ENSP00000305692.3:p.His568Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.1704C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.1704C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.His568Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.His568Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1923,
          "referenceAllele": "C",
          "start": 1922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.7:c.1704C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.His568Gln",
        "hgvsWellDefined": "ENSP00000305692.3:p.His568Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1848,
          "referenceAllele": "C",
          "start": 1847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000390015.7:c.1704C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374665.3:p.His568Gln",
        "hgvsWellDefined": "ENSP00000374665.3:p.His568Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274344"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 92,
          "referenceAllele": "C",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.1:c.92C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382771"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 318,
          "referenceAllele": "C",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572803.1:n.318C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825065938",
      "coordinates": [
        {
          "allele": "G",
          "end": 2071,
          "referenceAllele": "C",
          "start": 2070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.3:c.1704C>G",
        "LRG_673t1:c.1704C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.His568Gln",
        "hgvsWellDefined": "NP_000143.2:p.His568Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825461925",
      "coordinates": [
        {
          "allele": "G",
          "end": 1886,
          "referenceAllele": "C",
          "start": 1885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.1:c.1704C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.His568Gln",
        "hgvsWellDefined": "NP_001073271.1:p.His568Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139671490",
      "coordinates": [
        {
          "allele": "G",
          "end": 1806,
          "referenceAllele": "C",
          "start": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.1:c.1704C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.His568Gln",
        "hgvsWellDefined": "NP_001073272.1:p.His568Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010089"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1917,
          "referenceAllele": "C",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.1:c.1704C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.His568Gln",
        "hgvsWellDefined": "XP_005257250.1:p.His568Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061613"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1946,
          "referenceAllele": "C",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.3:c.1704C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.His568Gln",
        "hgvsWellDefined": "XP_005257251.1:p.His568Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825065938",
      "coordinates": [
        {
          "allele": "G",
          "end": 2101,
          "referenceAllele": "C",
          "start": 2100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.4:c.1704C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.His568Gln",
        "hgvsWellDefined": "NP_000143.2:p.His568Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510756"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825461925",
      "coordinates": [
        {
          "allele": "G",
          "end": 1916,
          "referenceAllele": "C",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.2:c.1704C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.His568Gln",
        "hgvsWellDefined": "NP_001073271.1:p.His568Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139671490",
      "coordinates": [
        {
          "allele": "G",
          "end": 1836,
          "referenceAllele": "C",
          "start": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.2:c.1704C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.His568Gln",
        "hgvsWellDefined": "NP_001073272.1:p.His568Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511219"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1902,
          "referenceAllele": "C",
          "start": 1901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.2:c.1704C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.His568Gln",
        "hgvsWellDefined": "XP_005257250.1:p.His568Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534619"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1942,
          "referenceAllele": "C",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.4:c.1704C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.His568Gln",
        "hgvsWellDefined": "XP_005257251.1:p.His568Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825065938",
      "coordinates": [
        {
          "allele": "G",
          "end": 2046,
          "referenceAllele": "C",
          "start": 2045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.5:c.1704C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.His568Gln",
        "hgvsWellDefined": "NP_000143.2:p.His568Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662328",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.1704C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.1704C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.His568Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.His568Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825461925",
      "coordinates": [
        {
          "allele": "G",
          "end": 1861,
          "referenceAllele": "C",
          "start": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.3:c.1704C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.His568Gln",
        "hgvsWellDefined": "NP_001073271.1:p.His568Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139671490",
      "coordinates": [
        {
          "allele": "G",
          "end": 1781,
          "referenceAllele": "C",
          "start": 1780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.3:c.1704C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.His568Gln",
        "hgvsWellDefined": "NP_001073272.1:p.His568Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676220"
    }
  ],
  "type": "nucleotide"
}