{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4650852",
  "communityStandardTitle": [
    "NM_177924.5(ASAH1):c.457+7G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=304752[alleleid]",
        "alleleId": 304752,
        "preferredName": "NM_177924.5(ASAH1):c.457+7G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/362379",
        "RCV": [
          "RCV000259794",
          "RCV000952361"
        ],
        "variationId": 362379
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-17921959-C-T",
        "id": "8-17921959-C-T",
        "variant": "8:17921959 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.17921959C>T?assembly=hg19",
        "id": "chr8:g.17921959C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.18064450C>T?assembly=hg38",
        "id": "chr8:g.18064450C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/189892461",
        "rs": 189892461
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-17921959-C-T?dataset=gnomad_r2_1",
        "id": "8-17921959-C-T",
        "variant": "8:17921959 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-18064450-C-T?dataset=gnomad_r3",
        "id": "8-18064450-C-T",
        "variant": "8:18064450 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-18064450-C-T?dataset=gnomad_r4",
        "id": "8-18064450-C-T",
        "variant": "8:18064450 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 18064450,
          "referenceAllele": "C",
          "start": 18064449
        }
      ],
      "hgvs": [
        "NC_000008.11:g.18064450C>T",
        "CM000670.2:g.18064450C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 17921959,
          "referenceAllele": "C",
          "start": 17921958
        }
      ],
      "hgvs": [
        "NC_000008.10:g.17921959C>T",
        "CM000670.1:g.17921959C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 17966239,
          "referenceAllele": "C",
          "start": 17966238
        }
      ],
      "hgvs": [
        "NC_000008.9:g.17966239C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25549,
          "referenceAllele": "G",
          "start": 25548
        }
      ],
      "hgvs": [
        "NG_008985.1:g.25549G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25549,
          "referenceAllele": "G",
          "start": 25548
        }
      ],
      "hgvs": [
        "NG_008985.2:g.25549G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673514"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 702,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 702,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000381733.9:c.505+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371152.4:n.505+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752573"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 474,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 474,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000519545.6:n.474+7G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758652"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 432,
          "endIntronDirection": "-",
          "endIntronOffset": 1219,
          "referenceAllele": "G",
          "start": 432,
          "startIntronDirection": "-",
          "startIntronOffset": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000520781.6:c.383-1220G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427751.1:n.383-1220G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758701"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 469,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 469,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000523593.6:c.*300+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490700.1:n.*300+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758815"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4222,
          "referenceAllele": "G",
          "start": 4221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000523744.2:n.4222G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758822"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 499,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 499,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000635769.1:c.478+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490485.1:n.478+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 530,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 530,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000635944.1:c.*293+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490195.1:n.*293+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 514,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 514,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000635998.1:c.457+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490506.1:n.457+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762795"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 314,
          "endIntronDirection": "-",
          "endIntronOffset": 1219,
          "referenceAllele": "G",
          "start": 314,
          "startIntronDirection": "-",
          "startIntronOffset": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636009.1:c.315-1220G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489988.1:n.315-1220G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762804"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 555,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 555,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636033.1:c.*293+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489617.1:n.*293+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762824"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 754,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 754,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636050.1:c.*300+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490562.1:n.*300+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 398,
          "endIntronDirection": "+",
          "endIntronOffset": 2770,
          "referenceAllele": "G",
          "start": 398,
          "startIntronDirection": "+",
          "startIntronOffset": 2769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636128.1:c.382+2770G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489789.1:n.382+2770G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 540,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 540,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636160.1:c.*349+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489651.1:n.*349+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762916"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 484,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 484,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636171.1:c.400+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489761.1:n.400+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762923"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 409,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 409,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636299.1:c.*228+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490202.1:n.*228+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3236,
          "referenceAllele": "G",
          "start": 3235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636435.1:n.3236G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763112"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 684,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 684,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636455.1:c.505+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490502.1:n.505+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 434,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 434,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636494.1:c.*237+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490388.1:n.*237+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 119,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 119,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636563.1:n.119+7G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763209"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 435,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 435,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636577.1:c.397+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490027.1:n.397+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763220"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 666,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 666,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636691.1:c.262+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490725.1:n.262+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636701.1:c.*108+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489800.1:n.*108+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763318"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 374,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 374,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636815.1:c.374+7G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 456,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 456,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636823.1:c.262+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490798.1:n.262+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3328,
          "referenceAllele": "G",
          "start": 3327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636828.1:n.3328G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 559,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 559,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636920.1:c.*293+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490437.1:n.*293+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763477"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 412,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 412,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636997.1:c.370+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490093.1:n.370+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1010,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 1010,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637013.1:c.*669+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490596.1:n.*669+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 491,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 491,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637095.1:c.*237+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490415.1:n.*237+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763609"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1379,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 1379,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637244.1:c.*975+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490188.1:n.*975+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 675,
          "referenceAllele": "G",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637343.1:n.675G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763798"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1064,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 1064,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637429.1:c.*669+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490522.1:n.*669+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763856"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 841,
          "endIntronDirection": "-",
          "endIntronOffset": 1219,
          "referenceAllele": "G",
          "start": 841,
          "startIntronDirection": "-",
          "startIntronOffset": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637484.1:c.*420-1220G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490837.1:n.*420-1220G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 409,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 409,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637528.1:c.394+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490801.1:n.394+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763922"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 449,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 449,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637603.1:c.427+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489979.1:n.427+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763977"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3178,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 3178,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637609.1:n.3178+7G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 706,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 706,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637636.1:c.451+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490112.1:n.451+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 484,
          "referenceAllele": "G",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637638.1:c.464G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490774.1:p.Cys155Tyr",
        "hgvsWellDefined": "ENSP00000490774.1:p.Cys155Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 471,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 471,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637718.1:c.262+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490133.1:n.262+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764059"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 506,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 506,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637790.2:c.457+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490272.1:n.457+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764110",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000637790.2:c.457+7G>A"
          },
          "RefSeq": {
            "hgvs": "NM_177924.5:c.457+7G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490272.1:n.457+7G>A"
          },
          "RefSeq": {
            "hgvs": "NP_808592.2:n.457+7G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 104,
          "endIntronDirection": "-",
          "endIntronOffset": 2026,
          "referenceAllele": "G",
          "start": 104,
          "startIntronDirection": "-",
          "startIntronOffset": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637857.1:n.105-2027G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 494,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637922.1:c.262+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490071.1:n.262+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764211"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 590,
          "endIntronDirection": "-",
          "endIntronOffset": 1219,
          "referenceAllele": "G",
          "start": 590,
          "startIntronDirection": "-",
          "startIntronOffset": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637991.1:c.431-1220G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489901.1:n.431-1220G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764261"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 513,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 513,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000638069.1:n.513+7G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764318"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 769,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 769,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000262097.10:c.457+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262097.6:n.457+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250926"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 623,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 623,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000314146.10:c.439+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326970.10:n.439+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 672,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 672,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000381733.8:c.505+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371152.4:n.505+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 388,
          "endIntronDirection": "-",
          "endIntronOffset": 2082,
          "referenceAllele": "G",
          "start": 388,
          "startIntronDirection": "-",
          "startIntronOffset": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000519468.5:n.389-2083G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346705"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 471,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 471,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000519545.5:n.471+7G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346770"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 694,
          "endIntronDirection": "-",
          "endIntronOffset": 1219,
          "referenceAllele": "G",
          "start": 694,
          "startIntronDirection": "-",
          "startIntronOffset": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000520781.5:c.383-1220G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427751.1:n.383-1220G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347754"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 310,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 310,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000523593.5:n.310+7G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS349940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 460,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 460,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000523744.1:n.460+7G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350054"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 636,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 636,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001127505.1:c.439+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120977.1:n.439+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 636,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 636,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001127505.2:c.439+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120977.1:n.439+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 702,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 702,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_004315.4:c.505+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004306.3:n.505+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029484"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 702,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 702,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_004315.5:c.505+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004306.3:n.505+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 769,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 769,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_177924.3:c.457+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_808592.2:n.457+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 769,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 769,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_177924.4:c.457+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_808592.2:n.457+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043384"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 530,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 530,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "XM_005273504.2:c.391+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273561.1:n.391+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067626"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 454,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 454,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001363743.1:c.262+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350672.1:n.262+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523526"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 530,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 530,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "XM_005273504.3:c.391+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273561.1:n.391+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537465"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 506,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 506,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_177924.5:c.457+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_808592.2:n.457+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672816",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000637790.2:c.457+7G>A"
          },
          "RefSeq": {
            "hgvs": "NM_177924.5:c.457+7G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490272.1:n.457+7G>A"
          },
          "RefSeq": {
            "hgvs": "NP_808592.2:n.457+7G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 599,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 599,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001127505.3:c.439+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120977.1:n.439+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676901"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 454,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 454,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001363743.2:c.262+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350672.1:n.262+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690762"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 665,
          "endIntronDirection": "+",
          "endIntronOffset": 7,
          "referenceAllele": "G",
          "start": 665,
          "startIntronDirection": "+",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_004315.6:c.505+7G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004306.3:n.505+7G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696102"
    }
  ],
  "type": "nucleotide"
}