{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401366876",
  "communityStandardTitle": [
    "NM_000152.5(GAA):c.1466A>G (p.Asp489Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2795603[alleleid]",
        "alleleId": 2795603,
        "preferredName": "NM_000152.5(GAA):c.1466A>G (p.Asp489Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2628097",
        "RCV": [
          "RCV003391170"
        ],
        "variationId": 2628097
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78084554A>G?assembly=hg19",
        "id": "chr17:g.78084554A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.80110755A>G?assembly=hg38",
        "id": "chr17:g.80110755A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2510373785",
        "rs": 2510373785
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 80110755,
          "referenceAllele": "A",
          "start": 80110754
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80110755A>G",
        "CM000679.2:g.80110755A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 78084554,
          "referenceAllele": "A",
          "start": 78084553
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78084554A>G",
        "CM000679.1:g.78084554A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 75699149,
          "referenceAllele": "A",
          "start": 75699148
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75699149A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14200,
          "referenceAllele": "A",
          "start": 14199
        }
      ],
      "hgvs": [
        "NG_009822.1:g.14200A>G",
        "LRG_673:g.14200A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001659"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1591,
          "referenceAllele": "A",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.6:c.1466A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.2:p.Asp489Gly",
        "hgvsWellDefined": "ENSP00000460543.2:p.Asp489Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914319"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1621,
          "referenceAllele": "A",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.2:c.1466A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459972.2:p.Asp489Gly",
        "hgvsWellDefined": "ENSP00000459972.2:p.Asp489Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914321"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1663,
          "referenceAllele": "A",
          "start": 1662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000577106.6:c.1466A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458306.2:p.Asp489Gly",
        "hgvsWellDefined": "ENSP00000458306.2:p.Asp489Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914323"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1808,
          "referenceAllele": "A",
          "start": 1807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.8:c.1466A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Asp489Gly",
        "hgvsWellDefined": "ENSP00000305692.3:p.Asp489Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.1466A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.1466A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Asp489Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Asp489Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1685,
          "referenceAllele": "A",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.7:c.1466A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Asp489Gly",
        "hgvsWellDefined": "ENSP00000305692.3:p.Asp489Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1610,
          "referenceAllele": "A",
          "start": 1609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000390015.7:c.1466A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374665.3:p.Asp489Gly",
        "hgvsWellDefined": "ENSP00000374665.3:p.Asp489Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274344"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825065791",
      "coordinates": [
        {
          "allele": "G",
          "end": 1833,
          "referenceAllele": "A",
          "start": 1832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.3:c.1466A>G",
        "LRG_673t1:c.1466A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Asp489Gly",
        "hgvsWellDefined": "NP_000143.2:p.Asp489Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825461709",
      "coordinates": [
        {
          "allele": "G",
          "end": 1648,
          "referenceAllele": "A",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.1:c.1466A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Asp489Gly",
        "hgvsWellDefined": "NP_001073271.1:p.Asp489Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825442716",
      "coordinates": [
        {
          "allele": "G",
          "end": 1568,
          "referenceAllele": "A",
          "start": 1567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.1:c.1466A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Asp489Gly",
        "hgvsWellDefined": "NP_001073272.1:p.Asp489Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010089"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1679,
          "referenceAllele": "A",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.1:c.1466A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Asp489Gly",
        "hgvsWellDefined": "XP_005257250.1:p.Asp489Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061613"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1708,
          "referenceAllele": "A",
          "start": 1707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.3:c.1466A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Asp489Gly",
        "hgvsWellDefined": "XP_005257251.1:p.Asp489Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825065791",
      "coordinates": [
        {
          "allele": "G",
          "end": 1863,
          "referenceAllele": "A",
          "start": 1862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.4:c.1466A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Asp489Gly",
        "hgvsWellDefined": "NP_000143.2:p.Asp489Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510756"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825461709",
      "coordinates": [
        {
          "allele": "G",
          "end": 1678,
          "referenceAllele": "A",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.2:c.1466A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Asp489Gly",
        "hgvsWellDefined": "NP_001073271.1:p.Asp489Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825442716",
      "coordinates": [
        {
          "allele": "G",
          "end": 1598,
          "referenceAllele": "A",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.2:c.1466A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Asp489Gly",
        "hgvsWellDefined": "NP_001073272.1:p.Asp489Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511219"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1664,
          "referenceAllele": "A",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.2:c.1466A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Asp489Gly",
        "hgvsWellDefined": "XP_005257250.1:p.Asp489Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534619"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1704,
          "referenceAllele": "A",
          "start": 1703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.4:c.1466A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Asp489Gly",
        "hgvsWellDefined": "XP_005257251.1:p.Asp489Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825065791",
      "coordinates": [
        {
          "allele": "G",
          "end": 1808,
          "referenceAllele": "A",
          "start": 1807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.5:c.1466A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Asp489Gly",
        "hgvsWellDefined": "NP_000143.2:p.Asp489Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662328",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.1466A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.1466A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Asp489Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Asp489Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825461709",
      "coordinates": [
        {
          "allele": "G",
          "end": 1623,
          "referenceAllele": "A",
          "start": 1622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.3:c.1466A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Asp489Gly",
        "hgvsWellDefined": "NP_001073271.1:p.Asp489Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825442716",
      "coordinates": [
        {
          "allele": "G",
          "end": 1543,
          "referenceAllele": "A",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.3:c.1466A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Asp489Gly",
        "hgvsWellDefined": "NP_001073272.1:p.Asp489Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676220"
    }
  ],
  "type": "nucleotide"
}