{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA116509",
  "communityStandardTitle": [
    "NM_000520.6(HEXA):c.772G>C (p.Asp258His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18963[alleleid]",
        "alleleId": 18963,
        "preferredName": "NM_000520.6(HEXA):c.772G>C (p.Asp258His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3924",
        "RCV": [
          "RCV000004130",
          "RCV000801596",
          "RCV001810829"
        ],
        "variationId": 3924
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.72642892C>G?assembly=hg19",
        "id": "chr15:g.72642892C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.72350551C>G?assembly=hg38",
        "id": "chr15:g.72350551C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121907971",
        "rs": 121907971
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-72642892-C-G?dataset=gnomad_r2_1",
        "id": "15-72642892-C-G",
        "variant": "15:72642892 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-72350551-C-G?dataset=gnomad_r3",
        "id": "15-72350551-C-G",
        "variant": "15:72350551 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-72350551-C-G?dataset=gnomad_r4",
        "id": "15-72350551-C-G",
        "variant": "15:72350551 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 72350551,
          "referenceAllele": "C",
          "start": 72350550
        }
      ],
      "hgvs": [
        "NC_000015.10:g.72350551C>G",
        "CM000677.2:g.72350551C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 72642892,
          "referenceAllele": "C",
          "start": 72642891
        }
      ],
      "hgvs": [
        "NC_000015.9:g.72642892C>G",
        "CM000677.1:g.72642892C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "G",
          "end": 70429946,
          "referenceAllele": "C",
          "start": 70429945
        }
      ],
      "hgvs": [
        "NC_000015.8:g.70429946C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 30629,
          "referenceAllele": "G",
          "start": 30628
        }
      ],
      "hgvs": [
        "NG_009017.1:g.30629G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001382"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 30629,
          "referenceAllele": "G",
          "start": 30628
        }
      ],
      "hgvs": [
        "NG_009017.2:g.30629G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673515"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3118,
          "referenceAllele": "G",
          "start": 3117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000563908.2:n.3118G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826099"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "referenceAllele": "G",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567027.6:c.772G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457521.2:p.Asp258His",
        "hgvsWellDefined": "ENSP00000457521.2:p.Asp258His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 856,
          "referenceAllele": "G",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682061.1:c.*434G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508316.1:n.*434G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827059"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 815,
          "referenceAllele": "G",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682177.1:c.815G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507409.1:n.815G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 878,
          "referenceAllele": "G",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682461.1:c.878G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507308.1:n.878G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827451"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "referenceAllele": "G",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682653.1:n.803G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827642"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 474,
          "referenceAllele": "G",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682657.1:c.*182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507753.1:n.*182G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827646"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 881,
          "referenceAllele": "G",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682721.1:c.*575G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507535.1:n.*575G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827710"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1037,
          "referenceAllele": "G",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000682843.1:c.*670G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508173.1:n.*670G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 635,
          "referenceAllele": "G",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683003.1:c.*182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507576.1:n.*182G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827990"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 956,
          "referenceAllele": "G",
          "start": 955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683133.1:c.956G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508108.1:n.956G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828118"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "referenceAllele": "G",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683228.1:n.803G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 633,
          "referenceAllele": "G",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683243.1:c.*182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507042.1:n.*182G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "referenceAllele": "G",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683463.1:c.772G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507986.1:p.Asp258His",
        "hgvsWellDefined": "ENSP00000507986.1:p.Asp258His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828439"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "referenceAllele": "G",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683548.1:n.803G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828521"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1044,
          "referenceAllele": "G",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683579.1:c.*670G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506867.1:n.*670G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828552"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "referenceAllele": "G",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683587.1:n.803G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828560"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 809,
          "referenceAllele": "G",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683681.1:c.772G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508110.1:p.Asp258His",
        "hgvsWellDefined": "ENSP00000508110.1:p.Asp258His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828652"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1053,
          "referenceAllele": "G",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683735.1:c.*670G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508336.1:n.*670G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828706"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 603,
          "referenceAllele": "G",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683742.1:n.603G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828713"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "referenceAllele": "G",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683853.1:c.772G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506834.1:p.Asp258His",
        "hgvsWellDefined": "ENSP00000506834.1:p.Asp258His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828820"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 809,
          "referenceAllele": "G",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683860.1:c.772G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507179.1:p.Asp258His",
        "hgvsWellDefined": "ENSP00000507179.1:p.Asp258His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828827"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "referenceAllele": "G",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683884.1:c.772G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507004.1:p.Asp258His",
        "hgvsWellDefined": "ENSP00000507004.1:p.Asp258His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828851"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 809,
          "referenceAllele": "G",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684041.1:c.772G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508382.1:p.Asp258His",
        "hgvsWellDefined": "ENSP00000508382.1:p.Asp258His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "referenceAllele": "G",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684125.1:c.772G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507320.1:p.Asp258His",
        "hgvsWellDefined": "ENSP00000507320.1:p.Asp258His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829083"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2610,
          "referenceAllele": "G",
          "start": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684203.1:n.2610G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829160"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 634,
          "referenceAllele": "G",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684231.1:c.*182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507748.1:n.*182G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829188"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "referenceAllele": "G",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684263.1:c.772G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508369.1:p.Asp258His",
        "hgvsWellDefined": "ENSP00000508369.1:p.Asp258His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829220"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1220,
          "referenceAllele": "G",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684305.1:c.1220G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506819.1:n.1220G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829261"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "referenceAllele": "G",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684415.1:c.772G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507227.1:p.Asp258His",
        "hgvsWellDefined": "ENSP00000507227.1:p.Asp258His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829370"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 809,
          "referenceAllele": "G",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684520.1:c.772G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506826.1:p.Asp258His",
        "hgvsWellDefined": "ENSP00000506826.1:p.Asp258His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829473"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 722,
          "referenceAllele": "G",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684602.1:c.*438G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507996.1:n.*438G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829554"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1103,
          "referenceAllele": "G",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684667.1:c.1103G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507003.1:n.1103G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 814,
          "referenceAllele": "G",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000268097.10:c.772G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268097.6:p.Asp258His",
        "hgvsWellDefined": "ENSP00000268097.6:p.Asp258His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268097.10:c.772G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000520.6:c.772G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268097.6:p.Asp258His"
          },
          "RefSeq": {
            "hgvs": "NP_000511.2:p.Asp258His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1276,
          "referenceAllele": "G",
          "start": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000268097.9:c.772G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268097.5:p.Asp258His",
        "hgvsWellDefined": "ENSP00000268097.5:p.Asp258His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252048"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 421,
          "endIntronDirection": "-",
          "endIntronOffset": 4225,
          "referenceAllele": "G",
          "start": 421,
          "startIntronDirection": "-",
          "startIntronOffset": 4226
        }
      ],
      "hgvs": [
        "ENST00000379915.4:c.413-4226G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478716.1:n.413-4226G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272694"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 705,
          "referenceAllele": "G",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000563762.5:c.705G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456346.1:n.705G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 826,
          "referenceAllele": "G",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000566304.5:c.805G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455114.1:p.Asp269His",
        "hgvsWellDefined": "ENSP00000455114.1:p.Asp269His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379341"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 645,
          "referenceAllele": "G",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000566672.5:c.*182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457037.1:n.*182G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 644,
          "referenceAllele": "G",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567027.5:c.644G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379842"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 793,
          "referenceAllele": "G",
          "start": 792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567159.5:c.772G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456489.1:p.Asp258His",
        "hgvsWellDefined": "ENSP00000456489.1:p.Asp258His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379928"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567411.5:c.*293G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455545.1:n.*293G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380095"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6176,
          "referenceAllele": "G",
          "start": 6175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000568777.5:n.6176G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 775,
          "referenceAllele": "G",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000569410.5:c.772G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457125.1:p.Asp258His",
        "hgvsWellDefined": "ENSP00000457125.1:p.Asp258His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099472",
      "coordinates": [
        {
          "allele": "C",
          "end": 979,
          "referenceAllele": "G",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.4:c.772G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Asp258His",
        "hgvsWellDefined": "NP_000511.2:p.Asp258His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006577"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099472",
      "coordinates": [
        {
          "allele": "C",
          "end": 1273,
          "referenceAllele": "G",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.5:c.772G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Asp258His",
        "hgvsWellDefined": "NP_000511.2:p.Asp258His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510809"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139688201",
      "coordinates": [
        {
          "allele": "C",
          "end": 1306,
          "referenceAllele": "G",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_001318825.1:c.805G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305754.1:p.Asp269His",
        "hgvsWellDefined": "NP_001305754.1:p.Asp269His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513060"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1273,
          "referenceAllele": "G",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.1:n.1273G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527809"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099472",
      "coordinates": [
        {
          "allele": "C",
          "end": 814,
          "referenceAllele": "G",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.6:c.772G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Asp258His",
        "hgvsWellDefined": "NP_000511.2:p.Asp258His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674877",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268097.10:c.772G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000520.6:c.772G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268097.6:p.Asp258His"
          },
          "RefSeq": {
            "hgvs": "NP_000511.2:p.Asp258His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139688201",
      "coordinates": [
        {
          "allele": "C",
          "end": 847,
          "referenceAllele": "G",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_001318825.2:c.805G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305754.1:p.Asp269His",
        "hgvsWellDefined": "NP_001305754.1:p.Asp269His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684622"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 814,
          "referenceAllele": "G",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.2:n.814G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703516"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 814,
          "referenceAllele": "G",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.3:n.814G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730887"
    }
  ],
  "type": "nucleotide"
}