{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA393058637",
  "communityStandardTitle": [
    "NM_000520.6(HEXA):c.1491T>G (p.Tyr497Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2063307[alleleid]",
        "alleleId": 2063307,
        "preferredName": "NM_000520.6(HEXA):c.1491T>G (p.Tyr497Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2010517",
        "RCV": [
          "RCV002834041"
        ],
        "variationId": 2010517
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.72637822A>C?assembly=hg19",
        "id": "chr15:g.72637822A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.72345481A>C?assembly=hg38",
        "id": "chr15:g.72345481A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2542509635",
        "rs": 2542509635
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-72345481-A-C?dataset=gnomad_r4",
        "id": "15-72345481-A-C",
        "variant": "15:72345481 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 72345481,
          "referenceAllele": "A",
          "start": 72345480
        }
      ],
      "hgvs": [
        "NC_000015.10:g.72345481A>C",
        "CM000677.2:g.72345481A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 72637822,
          "referenceAllele": "A",
          "start": 72637821
        }
      ],
      "hgvs": [
        "NC_000015.9:g.72637822A>C",
        "CM000677.1:g.72637822A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 70424876,
          "referenceAllele": "A",
          "start": 70424875
        }
      ],
      "hgvs": [
        "NC_000015.8:g.70424876A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 35699,
          "referenceAllele": "T",
          "start": 35698
        }
      ],
      "hgvs": [
        "NG_009017.1:g.35699T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001382"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 35699,
          "referenceAllele": "T",
          "start": 35698
        }
      ],
      "hgvs": [
        "NG_009017.2:g.35699T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673515"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1265,
          "referenceAllele": "T",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567027.6:c.*151T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457521.2:n.*151T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2259,
          "referenceAllele": "T",
          "start": 2258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682061.1:c.*1837T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508316.1:n.*1837T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827059"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1718,
          "referenceAllele": "T",
          "start": 1717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682064.1:n.1718T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827062"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1534,
          "referenceAllele": "T",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682177.1:c.1534T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507409.1:n.1534T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827174"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1514,
          "referenceAllele": "T",
          "start": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682235.1:n.1514T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1597,
          "referenceAllele": "T",
          "start": 1596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682461.1:c.1597T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507308.1:n.1597T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827451"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2495,
          "referenceAllele": "T",
          "start": 2494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682653.1:n.2495T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1620,
          "referenceAllele": "T",
          "start": 1619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682657.1:c.*1328T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507753.1:n.*1328T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827646"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1600,
          "referenceAllele": "T",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682721.1:c.*1294T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507535.1:n.*1294T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827710"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1499,
          "referenceAllele": "T",
          "start": 1498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682843.1:c.*1132T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508173.1:n.*1132T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827831"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1781,
          "referenceAllele": "T",
          "start": 1780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683003.1:c.*1328T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507576.1:n.*1328T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1675,
          "referenceAllele": "T",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683133.1:c.1675T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508108.1:n.1675T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828118"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1095,
          "referenceAllele": "T",
          "start": 1094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683243.1:c.*644T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507042.1:n.*644T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828225"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2133,
          "referenceAllele": "T",
          "start": 2132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683463.1:c.*980T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507986.1:n.*980T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828439"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1949,
          "referenceAllele": "T",
          "start": 1948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683548.1:n.1949T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828521"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1763,
          "referenceAllele": "T",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683579.1:c.*1389T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506867.1:n.*1389T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828552"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2022,
          "referenceAllele": "T",
          "start": 2021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683587.1:n.2022T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828560"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1628,
          "referenceAllele": "T",
          "start": 1627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683681.1:c.*169T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508110.1:n.*169T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828652"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2272,
          "referenceAllele": "T",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683735.1:c.*1889T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508336.1:n.*1889T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828706"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1449,
          "referenceAllele": "T",
          "start": 1448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683853.1:c.*296T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506834.1:n.*296T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828820"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2106,
          "referenceAllele": "T",
          "start": 2105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683860.1:c.*611T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507179.1:n.*611T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828827"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2022,
          "referenceAllele": "T",
          "start": 2021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683884.1:c.*818T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507004.1:n.*818T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828851"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2086,
          "referenceAllele": "T",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684041.1:c.*624T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508382.1:n.*624T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1265,
          "referenceAllele": "T",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684125.1:c.*151T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507320.1:n.*151T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3940,
          "referenceAllele": "T",
          "start": 3939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684203.1:n.3940T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829160"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1353,
          "referenceAllele": "T",
          "start": 1352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684231.1:c.*901T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507748.1:n.*901T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829188"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2223,
          "referenceAllele": "T",
          "start": 2222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684263.1:c.*1115T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508369.1:n.*1115T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829220"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1939,
          "referenceAllele": "T",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684305.1:c.1939T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506819.1:n.1939T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829261"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2150,
          "referenceAllele": "T",
          "start": 2149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684415.1:c.*1042T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507227.1:n.*1042T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829370"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2212,
          "referenceAllele": "T",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684520.1:c.*750T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506826.1:n.*750T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829473"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1441,
          "referenceAllele": "T",
          "start": 1440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684602.1:c.*1157T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507996.1:n.*1157T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1822,
          "referenceAllele": "T",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684667.1:c.1822T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507003.1:n.1822T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829618"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1533,
          "referenceAllele": "T",
          "start": 1532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000268097.10:c.1491T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268097.6:p.Tyr497Ter",
        "hgvsWellDefined": "ENSP00000268097.6:p.Tyr497_Thr529delinsGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268097.10:c.1491T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000520.6:c.1491T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268097.6:p.Tyr497Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000511.2:p.Tyr497Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1995,
          "referenceAllele": "T",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000268097.9:c.1491T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268097.5:p.Tyr497Ter",
        "hgvsWellDefined": "ENSP00000268097.5:p.Tyr497_Thr529delinsGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252048"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 582,
          "referenceAllele": "T",
          "start": 581
        }
      ],
      "hgvs": [
        "ENST00000379915.4:c.573T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478716.1:p.Tyr191Ter",
        "hgvsWellDefined": "ENSP00000478716.1:p.Tyr191_Val227delinsGluArgLeuSerHisPheArgCysGluLeuLeuArgLeuGlnGlyArgArgMetCysLeuArgLeuArgGlyLysLysValValLysAspThrGluAspArgAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272694"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 283,
          "referenceAllele": "T",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000564677.5:n.283T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378252"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 402,
          "referenceAllele": "T",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000565873.1:n.402T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379028"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1545,
          "referenceAllele": "T",
          "start": 1544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000566304.5:c.1524T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455114.1:p.Tyr508Ter",
        "hgvsWellDefined": "ENSP00000455114.1:p.Tyr508_Thr540delinsGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379341"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "T",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567027.5:c.1106T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379842"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1512,
          "referenceAllele": "T",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567159.5:c.1491T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456489.1:p.Tyr497Ter",
        "hgvsWellDefined": "ENSP00000456489.1:p.Tyr497_Arg509delinsGluArgLeuSerHisPheArgCysGluLeuLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379928"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1475,
          "referenceAllele": "T",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567411.5:c.*1012T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455545.1:n.*1012T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380095"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6711,
          "referenceAllele": "T",
          "start": 6710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000568777.5:n.6711T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 198,
          "referenceAllele": "T",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000569116.1:n.198T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381248"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825207483",
      "coordinates": [
        {
          "allele": "G",
          "end": 1698,
          "referenceAllele": "T",
          "start": 1697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.4:c.1491T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Tyr497Ter",
        "hgvsWellDefined": "NP_000511.2:p.Tyr497_Thr529delinsGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006577"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825207483",
      "coordinates": [
        {
          "allele": "G",
          "end": 1992,
          "referenceAllele": "T",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.5:c.1491T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Tyr497Ter",
        "hgvsWellDefined": "NP_000511.2:p.Tyr497_Thr529delinsGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510809"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580203018",
      "coordinates": [
        {
          "allele": "G",
          "end": 2025,
          "referenceAllele": "T",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_001318825.1:c.1524T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305754.1:p.Tyr508Ter",
        "hgvsWellDefined": "NP_001305754.1:p.Tyr508_Thr540delinsGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513060"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1735,
          "referenceAllele": "T",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.1:n.1735T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527809"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825207483",
      "coordinates": [
        {
          "allele": "G",
          "end": 1533,
          "referenceAllele": "T",
          "start": 1532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.6:c.1491T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Tyr497Ter",
        "hgvsWellDefined": "NP_000511.2:p.Tyr497_Thr529delinsGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674877",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268097.10:c.1491T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000520.6:c.1491T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268097.6:p.Tyr497Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000511.2:p.Tyr497Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580203018",
      "coordinates": [
        {
          "allele": "G",
          "end": 1566,
          "referenceAllele": "T",
          "start": 1565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_001318825.2:c.1524T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305754.1:p.Tyr508Ter",
        "hgvsWellDefined": "NP_001305754.1:p.Tyr508_Thr540delinsGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684622"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1276,
          "referenceAllele": "T",
          "start": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.2:n.1276T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703516"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1276,
          "referenceAllele": "T",
          "start": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.3:n.1276T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730887"
    }
  ],
  "type": "nucleotide"
}