{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401367208",
  "communityStandardTitle": [
    "NM_000152.5(GAA):c.1564C>A (p.Pro522Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=445909[alleleid]",
        "alleleId": 445909,
        "preferredName": "NM_000152.5(GAA):c.1564C>A (p.Pro522Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/449460",
        "RCV": [
          "RCV000519755",
          "RCV001834682"
        ],
        "variationId": 449460
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78084752C>A?assembly=hg19",
        "id": "chr17:g.78084752C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.80110953C>A?assembly=hg38",
        "id": "chr17:g.80110953C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/892129065",
        "rs": 892129065
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80110953-C-A?dataset=gnomad_r4",
        "id": "17-80110953-C-A",
        "variant": "17:80110953 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 80110953,
          "referenceAllele": "C",
          "start": 80110952
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80110953C>A",
        "CM000679.2:g.80110953C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 78084752,
          "referenceAllele": "C",
          "start": 78084751
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78084752C>A",
        "CM000679.1:g.78084752C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 75699347,
          "referenceAllele": "C",
          "start": 75699346
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75699347C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14398,
          "referenceAllele": "C",
          "start": 14397
        }
      ],
      "hgvs": [
        "NG_009822.1:g.14398C>A",
        "LRG_673:g.14398C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001659"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1689,
          "referenceAllele": "C",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.6:c.1564C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.2:p.Pro522Thr",
        "hgvsWellDefined": "ENSP00000460543.2:p.Pro522Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914319"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1719,
          "referenceAllele": "C",
          "start": 1718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.2:c.1564C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459972.2:p.Pro522Thr",
        "hgvsWellDefined": "ENSP00000459972.2:p.Pro522Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1761,
          "referenceAllele": "C",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000577106.6:c.1564C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458306.2:p.Pro522Thr",
        "hgvsWellDefined": "ENSP00000458306.2:p.Pro522Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1906,
          "referenceAllele": "C",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.8:c.1564C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Pro522Thr",
        "hgvsWellDefined": "ENSP00000305692.3:p.Pro522Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.1564C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.1564C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Pro522Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Pro522Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1783,
          "referenceAllele": "C",
          "start": 1782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.7:c.1564C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Pro522Thr",
        "hgvsWellDefined": "ENSP00000305692.3:p.Pro522Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255143"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1708,
          "referenceAllele": "C",
          "start": 1707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000390015.7:c.1564C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374665.3:p.Pro522Thr",
        "hgvsWellDefined": "ENSP00000374665.3:p.Pro522Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274344"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658678807",
      "coordinates": [
        {
          "allele": "A",
          "end": 1931,
          "referenceAllele": "C",
          "start": 1930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.3:c.1564C>A",
        "LRG_673t1:c.1564C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Pro522Thr",
        "hgvsWellDefined": "NP_000143.2:p.Pro522Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825461774",
      "coordinates": [
        {
          "allele": "A",
          "end": 1746,
          "referenceAllele": "C",
          "start": 1745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.1:c.1564C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Pro522Thr",
        "hgvsWellDefined": "NP_001073271.1:p.Pro522Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915964677",
      "coordinates": [
        {
          "allele": "A",
          "end": 1666,
          "referenceAllele": "C",
          "start": 1665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.1:c.1564C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Pro522Thr",
        "hgvsWellDefined": "NP_001073272.1:p.Pro522Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1777,
          "referenceAllele": "C",
          "start": 1776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.1:c.1564C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Pro522Thr",
        "hgvsWellDefined": "XP_005257250.1:p.Pro522Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1806,
          "referenceAllele": "C",
          "start": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.3:c.1564C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Pro522Thr",
        "hgvsWellDefined": "XP_005257251.1:p.Pro522Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658678807",
      "coordinates": [
        {
          "allele": "A",
          "end": 1961,
          "referenceAllele": "C",
          "start": 1960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.4:c.1564C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Pro522Thr",
        "hgvsWellDefined": "NP_000143.2:p.Pro522Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510756"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825461774",
      "coordinates": [
        {
          "allele": "A",
          "end": 1776,
          "referenceAllele": "C",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.2:c.1564C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Pro522Thr",
        "hgvsWellDefined": "NP_001073271.1:p.Pro522Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915964677",
      "coordinates": [
        {
          "allele": "A",
          "end": 1696,
          "referenceAllele": "C",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.2:c.1564C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Pro522Thr",
        "hgvsWellDefined": "NP_001073272.1:p.Pro522Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1762,
          "referenceAllele": "C",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.2:c.1564C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Pro522Thr",
        "hgvsWellDefined": "XP_005257250.1:p.Pro522Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534619"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1802,
          "referenceAllele": "C",
          "start": 1801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.4:c.1564C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Pro522Thr",
        "hgvsWellDefined": "XP_005257251.1:p.Pro522Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658678807",
      "coordinates": [
        {
          "allele": "A",
          "end": 1906,
          "referenceAllele": "C",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.5:c.1564C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Pro522Thr",
        "hgvsWellDefined": "NP_000143.2:p.Pro522Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662328",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.1564C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.1564C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Pro522Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Pro522Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825461774",
      "coordinates": [
        {
          "allele": "A",
          "end": 1721,
          "referenceAllele": "C",
          "start": 1720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.3:c.1564C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Pro522Thr",
        "hgvsWellDefined": "NP_001073271.1:p.Pro522Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915964677",
      "coordinates": [
        {
          "allele": "A",
          "end": 1641,
          "referenceAllele": "C",
          "start": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.3:c.1564C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Pro522Thr",
        "hgvsWellDefined": "NP_001073272.1:p.Pro522Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676220"
    }
  ],
  "type": "nucleotide"
}