{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401366800",
  "communityStandardTitle": [
    "NM_000152.5(GAA):c.1447G>C (p.Gly483Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4179948[alleleid]",
        "alleleId": 4179948,
        "preferredName": "NM_000152.5(GAA):c.1447G>C (p.Gly483Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4068191",
        "RCV": [
          "RCV005613763"
        ],
        "variationId": 4068191
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78084535G>C?assembly=hg19",
        "id": "chr17:g.78084535G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.80110736G>C?assembly=hg38",
        "id": "chr17:g.80110736G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 80110736,
          "referenceAllele": "G",
          "start": 80110735
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80110736G>C",
        "CM000679.2:g.80110736G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 78084535,
          "referenceAllele": "G",
          "start": 78084534
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78084535G>C",
        "CM000679.1:g.78084535G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 75699130,
          "referenceAllele": "G",
          "start": 75699129
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75699130G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14181,
          "referenceAllele": "G",
          "start": 14180
        }
      ],
      "hgvs": [
        "NG_009822.1:g.14181G>C",
        "LRG_673:g.14181G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001659"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1572,
          "referenceAllele": "G",
          "start": 1571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.6:c.1447G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.2:p.Gly483Arg",
        "hgvsWellDefined": "ENSP00000460543.2:p.Gly483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914319"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1602,
          "referenceAllele": "G",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.2:c.1447G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459972.2:p.Gly483Arg",
        "hgvsWellDefined": "ENSP00000459972.2:p.Gly483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1644,
          "referenceAllele": "G",
          "start": 1643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000577106.6:c.1447G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458306.2:p.Gly483Arg",
        "hgvsWellDefined": "ENSP00000458306.2:p.Gly483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914323"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1789,
          "referenceAllele": "G",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.8:c.1447G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Gly483Arg",
        "hgvsWellDefined": "ENSP00000305692.3:p.Gly483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.1447G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.1447G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Gly483Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Gly483Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1666,
          "referenceAllele": "G",
          "start": 1665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.7:c.1447G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Gly483Arg",
        "hgvsWellDefined": "ENSP00000305692.3:p.Gly483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255143"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1591,
          "referenceAllele": "G",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000390015.7:c.1447G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374665.3:p.Gly483Arg",
        "hgvsWellDefined": "ENSP00000374665.3:p.Gly483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274344"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645481800",
      "coordinates": [
        {
          "allele": "C",
          "end": 1814,
          "referenceAllele": "G",
          "start": 1813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.3:c.1447G>C",
        "LRG_673t1:c.1447G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Gly483Arg",
        "hgvsWellDefined": "NP_000143.2:p.Gly483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825461678",
      "coordinates": [
        {
          "allele": "C",
          "end": 1629,
          "referenceAllele": "G",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.1:c.1447G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Gly483Arg",
        "hgvsWellDefined": "NP_001073271.1:p.Gly483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915964662",
      "coordinates": [
        {
          "allele": "C",
          "end": 1549,
          "referenceAllele": "G",
          "start": 1548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.1:c.1447G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Gly483Arg",
        "hgvsWellDefined": "NP_001073272.1:p.Gly483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010089"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1660,
          "referenceAllele": "G",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.1:c.1447G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Gly483Arg",
        "hgvsWellDefined": "XP_005257250.1:p.Gly483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061613"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1689,
          "referenceAllele": "G",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.3:c.1447G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Gly483Arg",
        "hgvsWellDefined": "XP_005257251.1:p.Gly483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645481800",
      "coordinates": [
        {
          "allele": "C",
          "end": 1844,
          "referenceAllele": "G",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.4:c.1447G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Gly483Arg",
        "hgvsWellDefined": "NP_000143.2:p.Gly483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510756"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825461678",
      "coordinates": [
        {
          "allele": "C",
          "end": 1659,
          "referenceAllele": "G",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.2:c.1447G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Gly483Arg",
        "hgvsWellDefined": "NP_001073271.1:p.Gly483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915964662",
      "coordinates": [
        {
          "allele": "C",
          "end": 1579,
          "referenceAllele": "G",
          "start": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.2:c.1447G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Gly483Arg",
        "hgvsWellDefined": "NP_001073272.1:p.Gly483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511219"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1645,
          "referenceAllele": "G",
          "start": 1644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.2:c.1447G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Gly483Arg",
        "hgvsWellDefined": "XP_005257250.1:p.Gly483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534619"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1685,
          "referenceAllele": "G",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.4:c.1447G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Gly483Arg",
        "hgvsWellDefined": "XP_005257251.1:p.Gly483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645481800",
      "coordinates": [
        {
          "allele": "C",
          "end": 1789,
          "referenceAllele": "G",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.5:c.1447G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Gly483Arg",
        "hgvsWellDefined": "NP_000143.2:p.Gly483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662328",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.1447G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.1447G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Gly483Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Gly483Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825461678",
      "coordinates": [
        {
          "allele": "C",
          "end": 1604,
          "referenceAllele": "G",
          "start": 1603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.3:c.1447G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Gly483Arg",
        "hgvsWellDefined": "NP_001073271.1:p.Gly483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915964662",
      "coordinates": [
        {
          "allele": "C",
          "end": 1524,
          "referenceAllele": "G",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.3:c.1447G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Gly483Arg",
        "hgvsWellDefined": "NP_001073272.1:p.Gly483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676220"
    }
  ],
  "type": "nucleotide"
}