{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401369835",
  "communityStandardTitle": [
    "NM_000152.5(GAA):c.1895T>G (p.Leu632Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=625782[alleleid]",
        "alleleId": 625782,
        "preferredName": "NM_000152.5(GAA):c.1895T>G (p.Leu632Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/637961",
        "RCV": [
          "RCV000791248"
        ],
        "variationId": 637961
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78086681T>G?assembly=hg19",
        "id": "chr17:g.78086681T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.80112882T>G?assembly=hg38",
        "id": "chr17:g.80112882T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1598585402",
        "rs": 1598585402
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 80112882,
          "referenceAllele": "T",
          "start": 80112881
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80112882T>G",
        "CM000679.2:g.80112882T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 78086681,
          "referenceAllele": "T",
          "start": 78086680
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78086681T>G",
        "CM000679.1:g.78086681T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 75701276,
          "referenceAllele": "T",
          "start": 75701275
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75701276T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16327,
          "referenceAllele": "T",
          "start": 16326
        }
      ],
      "hgvs": [
        "NG_009822.1:g.16327T>G",
        "LRG_673:g.16327T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001659"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2020,
          "referenceAllele": "T",
          "start": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.6:c.1895T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.2:p.Leu632Arg",
        "hgvsWellDefined": "ENSP00000460543.2:p.Leu632Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914319"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2081,
          "referenceAllele": "T",
          "start": 2080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.2:c.*33T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459972.2:n.*33T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914321"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2092,
          "referenceAllele": "T",
          "start": 2091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000577106.6:c.1895T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458306.2:p.Leu632Arg",
        "hgvsWellDefined": "ENSP00000458306.2:p.Leu632Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914323"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2237,
          "referenceAllele": "T",
          "start": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.8:c.1895T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Leu632Arg",
        "hgvsWellDefined": "ENSP00000305692.3:p.Leu632Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.1895T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.1895T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Leu632Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Leu632Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2114,
          "referenceAllele": "T",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.7:c.1895T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Leu632Arg",
        "hgvsWellDefined": "ENSP00000305692.3:p.Leu632Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2039,
          "referenceAllele": "T",
          "start": 2038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000390015.7:c.1895T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374665.3:p.Leu632Arg",
        "hgvsWellDefined": "ENSP00000374665.3:p.Leu632Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274344"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 335,
          "referenceAllele": "T",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570716.1:n.335T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382201"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 314,
          "referenceAllele": "T",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.1:c.314T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382771"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 509,
          "referenceAllele": "T",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572803.1:n.509T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825066084",
      "coordinates": [
        {
          "allele": "G",
          "end": 2262,
          "referenceAllele": "T",
          "start": 2261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.3:c.1895T>G",
        "LRG_673t1:c.1895T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Leu632Arg",
        "hgvsWellDefined": "NP_000143.2:p.Leu632Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825462251",
      "coordinates": [
        {
          "allele": "G",
          "end": 2077,
          "referenceAllele": "T",
          "start": 2076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.1:c.1895T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Leu632Arg",
        "hgvsWellDefined": "NP_001073271.1:p.Leu632Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915964766",
      "coordinates": [
        {
          "allele": "G",
          "end": 1997,
          "referenceAllele": "T",
          "start": 1996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.1:c.1895T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Leu632Arg",
        "hgvsWellDefined": "NP_001073272.1:p.Leu632Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010089"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2108,
          "referenceAllele": "T",
          "start": 2107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.1:c.1895T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Leu632Arg",
        "hgvsWellDefined": "XP_005257250.1:p.Leu632Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061613"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2137,
          "referenceAllele": "T",
          "start": 2136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.3:c.1895T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Leu632Arg",
        "hgvsWellDefined": "XP_005257251.1:p.Leu632Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825066084",
      "coordinates": [
        {
          "allele": "G",
          "end": 2292,
          "referenceAllele": "T",
          "start": 2291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.4:c.1895T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Leu632Arg",
        "hgvsWellDefined": "NP_000143.2:p.Leu632Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510756"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825462251",
      "coordinates": [
        {
          "allele": "G",
          "end": 2107,
          "referenceAllele": "T",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.2:c.1895T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Leu632Arg",
        "hgvsWellDefined": "NP_001073271.1:p.Leu632Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915964766",
      "coordinates": [
        {
          "allele": "G",
          "end": 2027,
          "referenceAllele": "T",
          "start": 2026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.2:c.1895T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Leu632Arg",
        "hgvsWellDefined": "NP_001073272.1:p.Leu632Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511219"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2093,
          "referenceAllele": "T",
          "start": 2092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.2:c.1895T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Leu632Arg",
        "hgvsWellDefined": "XP_005257250.1:p.Leu632Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534619"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2133,
          "referenceAllele": "T",
          "start": 2132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.4:c.1895T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Leu632Arg",
        "hgvsWellDefined": "XP_005257251.1:p.Leu632Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825066084",
      "coordinates": [
        {
          "allele": "G",
          "end": 2237,
          "referenceAllele": "T",
          "start": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.5:c.1895T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Leu632Arg",
        "hgvsWellDefined": "NP_000143.2:p.Leu632Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662328",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.1895T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.1895T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Leu632Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Leu632Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825462251",
      "coordinates": [
        {
          "allele": "G",
          "end": 2052,
          "referenceAllele": "T",
          "start": 2051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.3:c.1895T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Leu632Arg",
        "hgvsWellDefined": "NP_001073271.1:p.Leu632Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915964766",
      "coordinates": [
        {
          "allele": "G",
          "end": 1972,
          "referenceAllele": "T",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.3:c.1895T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Leu632Arg",
        "hgvsWellDefined": "NP_001073272.1:p.Leu632Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676220"
    }
  ],
  "type": "nucleotide"
}