{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401368771",
  "communityStandardTitle": [
    "NM_000152.5(GAA):c.1646G>A (p.Gly549Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2155848[alleleid]",
        "alleleId": 2155848,
        "preferredName": "NM_000152.5(GAA):c.1646G>A (p.Gly549Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2091465",
        "RCV": [
          "RCV003007973"
        ],
        "variationId": 2091465
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78085791G>A?assembly=hg19",
        "id": "chr17:g.78085791G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.80111992G>A?assembly=hg38",
        "id": "chr17:g.80111992G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2039246325",
        "rs": 2039246325
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80111992-G-A?dataset=gnomad_r4",
        "id": "17-80111992-G-A",
        "variant": "17:80111992 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 80111992,
          "referenceAllele": "G",
          "start": 80111991
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80111992G>A",
        "CM000679.2:g.80111992G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 78085791,
          "referenceAllele": "G",
          "start": 78085790
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78085791G>A",
        "CM000679.1:g.78085791G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 75700386,
          "referenceAllele": "G",
          "start": 75700385
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75700386G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15437,
          "referenceAllele": "G",
          "start": 15436
        }
      ],
      "hgvs": [
        "NG_009822.1:g.15437G>A",
        "LRG_673:g.15437G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001659"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1771,
          "referenceAllele": "G",
          "start": 1770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.6:c.1646G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.2:p.Gly549Glu",
        "hgvsWellDefined": "ENSP00000460543.2:p.Gly549Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914319"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1801,
          "referenceAllele": "G",
          "start": 1800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.2:c.1646G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459972.2:p.Gly549Glu",
        "hgvsWellDefined": "ENSP00000459972.2:p.Gly549Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1843,
          "referenceAllele": "G",
          "start": 1842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000577106.6:c.1646G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458306.2:p.Gly549Glu",
        "hgvsWellDefined": "ENSP00000458306.2:p.Gly549Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914323"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1988,
          "referenceAllele": "G",
          "start": 1987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.8:c.1646G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Gly549Glu",
        "hgvsWellDefined": "ENSP00000305692.3:p.Gly549Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.1646G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.1646G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Gly549Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Gly549Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1865,
          "referenceAllele": "G",
          "start": 1864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.7:c.1646G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Gly549Glu",
        "hgvsWellDefined": "ENSP00000305692.3:p.Gly549Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255143"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1790,
          "referenceAllele": "G",
          "start": 1789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000390015.7:c.1646G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374665.3:p.Gly549Glu",
        "hgvsWellDefined": "ENSP00000374665.3:p.Gly549Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274344"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 34,
          "referenceAllele": "G",
          "start": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.1:c.34G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 260,
          "referenceAllele": "G",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572803.1:n.260G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825065895",
      "coordinates": [
        {
          "allele": "A",
          "end": 2013,
          "referenceAllele": "G",
          "start": 2012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.3:c.1646G>A",
        "LRG_673t1:c.1646G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Gly549Glu",
        "hgvsWellDefined": "NP_000143.2:p.Gly549Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825461848",
      "coordinates": [
        {
          "allele": "A",
          "end": 1828,
          "referenceAllele": "G",
          "start": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.1:c.1646G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Gly549Glu",
        "hgvsWellDefined": "NP_001073271.1:p.Gly549Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825442857",
      "coordinates": [
        {
          "allele": "A",
          "end": 1748,
          "referenceAllele": "G",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.1:c.1646G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Gly549Glu",
        "hgvsWellDefined": "NP_001073272.1:p.Gly549Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1859,
          "referenceAllele": "G",
          "start": 1858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.1:c.1646G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Gly549Glu",
        "hgvsWellDefined": "XP_005257250.1:p.Gly549Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061613"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1888,
          "referenceAllele": "G",
          "start": 1887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.3:c.1646G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Gly549Glu",
        "hgvsWellDefined": "XP_005257251.1:p.Gly549Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825065895",
      "coordinates": [
        {
          "allele": "A",
          "end": 2043,
          "referenceAllele": "G",
          "start": 2042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.4:c.1646G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Gly549Glu",
        "hgvsWellDefined": "NP_000143.2:p.Gly549Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510756"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825461848",
      "coordinates": [
        {
          "allele": "A",
          "end": 1858,
          "referenceAllele": "G",
          "start": 1857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.2:c.1646G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Gly549Glu",
        "hgvsWellDefined": "NP_001073271.1:p.Gly549Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825442857",
      "coordinates": [
        {
          "allele": "A",
          "end": 1778,
          "referenceAllele": "G",
          "start": 1777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.2:c.1646G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Gly549Glu",
        "hgvsWellDefined": "NP_001073272.1:p.Gly549Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1844,
          "referenceAllele": "G",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.2:c.1646G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Gly549Glu",
        "hgvsWellDefined": "XP_005257250.1:p.Gly549Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534619"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1884,
          "referenceAllele": "G",
          "start": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.4:c.1646G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Gly549Glu",
        "hgvsWellDefined": "XP_005257251.1:p.Gly549Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825065895",
      "coordinates": [
        {
          "allele": "A",
          "end": 1988,
          "referenceAllele": "G",
          "start": 1987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.5:c.1646G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Gly549Glu",
        "hgvsWellDefined": "NP_000143.2:p.Gly549Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662328",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.1646G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.1646G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Gly549Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Gly549Glu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825461848",
      "coordinates": [
        {
          "allele": "A",
          "end": 1803,
          "referenceAllele": "G",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.3:c.1646G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Gly549Glu",
        "hgvsWellDefined": "NP_001073271.1:p.Gly549Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825442857",
      "coordinates": [
        {
          "allele": "A",
          "end": 1723,
          "referenceAllele": "G",
          "start": 1722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.3:c.1646G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Gly549Glu",
        "hgvsWellDefined": "NP_001073272.1:p.Gly549Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676220"
    }
  ],
  "type": "nucleotide"
}