{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA370430988",
  "communityStandardTitle": [
    "NM_177924.5(ASAH1):c.502G>T (p.Gly168Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=800731[alleleid]",
        "alleleId": 800731,
        "preferredName": "NM_177924.5(ASAH1):c.502G>T (p.Gly168Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/812477",
        "RCV": [
          "RCV001003306"
        ],
        "variationId": 812477
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.17920695C>A?assembly=hg19",
        "id": "chr8:g.17920695C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.18063186C>A?assembly=hg38",
        "id": "chr8:g.18063186C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1421841663",
        "rs": 1421841663
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 18063186,
          "referenceAllele": "C",
          "start": 18063185
        }
      ],
      "hgvs": [
        "NC_000008.11:g.18063186C>A",
        "CM000670.2:g.18063186C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 17920695,
          "referenceAllele": "C",
          "start": 17920694
        }
      ],
      "hgvs": [
        "NC_000008.10:g.17920695C>A",
        "CM000670.1:g.17920695C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 17964975,
          "referenceAllele": "C",
          "start": 17964974
        }
      ],
      "hgvs": [
        "NC_000008.9:g.17964975C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26813,
          "referenceAllele": "G",
          "start": 26812
        }
      ],
      "hgvs": [
        "NG_008985.1:g.26813G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26813,
          "referenceAllele": "G",
          "start": 26812
        }
      ],
      "hgvs": [
        "NG_008985.2:g.26813G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673514"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 747,
          "referenceAllele": "G",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000381733.9:c.550G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371152.4:p.Gly184Trp",
        "hgvsWellDefined": "ENSP00000371152.4:p.Gly184Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000517409.2:n.439G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 662,
          "referenceAllele": "G",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000518746.2:n.662G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 519,
          "referenceAllele": "G",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000519545.6:n.519G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758652"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 477,
          "referenceAllele": "G",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000520781.6:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427751.1:p.Gly143Trp",
        "hgvsWellDefined": "ENSP00000427751.1:p.Gly143Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 514,
          "referenceAllele": "G",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000523593.6:c.*345G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490700.1:n.*345G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758815"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5486,
          "referenceAllele": "G",
          "start": 5485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000523744.2:n.5486G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758822"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 544,
          "referenceAllele": "G",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000635769.1:c.523G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490485.1:p.Gly175Trp",
        "hgvsWellDefined": "ENSP00000490485.1:p.Gly175Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 575,
          "referenceAllele": "G",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000635944.1:c.*338G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490195.1:n.*338G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762756"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 559,
          "referenceAllele": "G",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000635998.1:c.502G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490506.1:p.Gly168Trp",
        "hgvsWellDefined": "ENSP00000490506.1:p.Gly168Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 359,
          "referenceAllele": "G",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636009.1:c.359G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489988.1:n.359G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762804"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 600,
          "referenceAllele": "G",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636033.1:c.*338G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489617.1:n.*338G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 799,
          "referenceAllele": "G",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636050.1:c.*345G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490562.1:n.*345G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 398,
          "endIntronDirection": "-",
          "endIntronOffset": 1727,
          "referenceAllele": "G",
          "start": 398,
          "startIntronDirection": "-",
          "startIntronOffset": 1728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636128.1:c.383-1728G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489789.1:n.383-1728G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 585,
          "referenceAllele": "G",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636160.1:c.*394G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489651.1:n.*394G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762916"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 529,
          "referenceAllele": "G",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636171.1:c.445G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489761.1:p.Gly149Trp",
        "hgvsWellDefined": "ENSP00000489761.1:p.Gly149Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 454,
          "referenceAllele": "G",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636299.1:c.*273G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490202.1:n.*273G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4500,
          "referenceAllele": "G",
          "start": 4499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636435.1:n.4500G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763112"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 729,
          "referenceAllele": "G",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636455.1:c.550G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490502.1:p.Gly184Trp",
        "hgvsWellDefined": "ENSP00000490502.1:p.Gly184Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 479,
          "referenceAllele": "G",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636494.1:c.*282G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490388.1:n.*282G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 164,
          "referenceAllele": "G",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636563.1:n.164G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636577.1:c.442G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490027.1:p.Gly148Trp",
        "hgvsWellDefined": "ENSP00000490027.1:p.Gly148Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763220"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 711,
          "referenceAllele": "G",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636691.1:c.307G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490725.1:p.Gly103Trp",
        "hgvsWellDefined": "ENSP00000490725.1:p.Gly103Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 408,
          "referenceAllele": "G",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636701.1:c.*153G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489800.1:n.*153G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 419,
          "referenceAllele": "G",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636815.1:c.419G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 501,
          "referenceAllele": "G",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636823.1:c.307G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490798.1:p.Gly103Trp",
        "hgvsWellDefined": "ENSP00000490798.1:p.Gly103Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 604,
          "referenceAllele": "G",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636920.1:c.*338G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490437.1:n.*338G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763477"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000636997.1:c.415G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490093.1:p.Gly139Trp",
        "hgvsWellDefined": "ENSP00000490093.1:p.Gly139Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1211,
          "referenceAllele": "G",
          "start": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637013.1:c.*870G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490596.1:n.*870G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 536,
          "referenceAllele": "G",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637095.1:c.*282G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490415.1:n.*282G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763609"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1424,
          "referenceAllele": "G",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637244.1:c.*1020G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490188.1:n.*1020G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1939,
          "referenceAllele": "G",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637343.1:n.1939G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763798"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1109,
          "referenceAllele": "G",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637429.1:c.*714G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490522.1:n.*714G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763856"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "referenceAllele": "G",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637484.1:c.*464G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490837.1:n.*464G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763891"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 454,
          "referenceAllele": "G",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637528.1:c.439G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490801.1:p.Gly147Trp",
        "hgvsWellDefined": "ENSP00000490801.1:p.Gly147Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763922"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 494,
          "referenceAllele": "G",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637603.1:c.472G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489979.1:p.Gly158Trp",
        "hgvsWellDefined": "ENSP00000489979.1:p.Gly158Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763977"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3223,
          "referenceAllele": "G",
          "start": 3222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637609.1:n.3223G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 751,
          "referenceAllele": "G",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637636.1:c.496G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490112.1:p.Gly166Trp",
        "hgvsWellDefined": "ENSP00000490112.1:p.Gly166Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 516,
          "referenceAllele": "G",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637718.1:c.307G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490133.1:p.Gly103Trp",
        "hgvsWellDefined": "ENSP00000490133.1:p.Gly103Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764059"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 551,
          "referenceAllele": "G",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637790.2:c.502G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490272.1:p.Gly168Trp",
        "hgvsWellDefined": "ENSP00000490272.1:p.Gly168Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764110",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000637790.2:c.502G>T"
          },
          "RefSeq": {
            "hgvs": "NM_177924.5:c.502G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490272.1:p.Gly168Trp"
          },
          "RefSeq": {
            "hgvs": "NP_808592.2:p.Gly168Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 104,
          "endIntronDirection": "-",
          "endIntronOffset": 762,
          "referenceAllele": "G",
          "start": 104,
          "startIntronDirection": "-",
          "startIntronOffset": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637857.1:n.105-763G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 539,
          "referenceAllele": "G",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637922.1:c.307G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490071.1:p.Gly103Trp",
        "hgvsWellDefined": "ENSP00000490071.1:p.Gly103Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764211"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 635,
          "referenceAllele": "G",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000637991.1:c.475G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489901.1:p.Gly159Trp",
        "hgvsWellDefined": "ENSP00000489901.1:p.Gly159Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764261"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 558,
          "referenceAllele": "G",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000638069.1:n.558G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "G",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000262097.10:c.502G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262097.6:p.Gly168Trp",
        "hgvsWellDefined": "ENSP00000262097.6:p.Gly168Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250926"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 668,
          "referenceAllele": "G",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000314146.10:c.484G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326970.10:p.Gly162Trp",
        "hgvsWellDefined": "ENSP00000326970.10:p.Gly162Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 717,
          "referenceAllele": "G",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000381733.8:c.550G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371152.4:p.Gly184Trp",
        "hgvsWellDefined": "ENSP00000371152.4:p.Gly184Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000517409.1:n.439G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS345092"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "endIntronDirection": "-",
          "endIntronOffset": 818,
          "referenceAllele": "G",
          "start": 388,
          "startIntronDirection": "-",
          "startIntronOffset": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000519468.5:n.389-819G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346705"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 516,
          "referenceAllele": "G",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000519545.5:n.516G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 739,
          "referenceAllele": "G",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000520781.5:c.427G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427751.1:p.Gly143Trp",
        "hgvsWellDefined": "ENSP00000427751.1:p.Gly143Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 355,
          "referenceAllele": "G",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000523593.5:n.355G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS349940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 505,
          "referenceAllele": "G",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "ENST00000523744.1:n.505G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624595",
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "G",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001127505.1:c.484G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120977.1:p.Gly162Trp",
        "hgvsWellDefined": "NP_001120977.1:p.Gly162Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624595",
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "G",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001127505.2:c.484G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120977.1:p.Gly162Trp",
        "hgvsWellDefined": "NP_001120977.1:p.Gly162Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011632"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916011552",
      "coordinates": [
        {
          "allele": "T",
          "end": 747,
          "referenceAllele": "G",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_004315.4:c.550G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004306.3:p.Gly184Trp",
        "hgvsWellDefined": "NP_004306.3:p.Gly184Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029484"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916011552",
      "coordinates": [
        {
          "allele": "T",
          "end": 747,
          "referenceAllele": "G",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_004315.5:c.550G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004306.3:p.Gly184Trp",
        "hgvsWellDefined": "NP_004306.3:p.Gly184Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029485"
    },
    {
      "@id": "http://reg.genome.network/allele/PA105766",
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "G",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_177924.3:c.502G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_808592.2:p.Gly168Trp",
        "hgvsWellDefined": "NP_808592.2:p.Gly168Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA105766",
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "G",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_177924.4:c.502G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_808592.2:p.Gly168Trp",
        "hgvsWellDefined": "NP_808592.2:p.Gly168Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 575,
          "referenceAllele": "G",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "XM_005273504.2:c.436G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273561.1:p.Gly146Trp",
        "hgvsWellDefined": "XP_005273561.1:p.Gly146Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067626"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828108494",
      "coordinates": [
        {
          "allele": "T",
          "end": 499,
          "referenceAllele": "G",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001363743.1:c.307G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350672.1:p.Gly103Trp",
        "hgvsWellDefined": "NP_001350672.1:p.Gly103Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523526"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 575,
          "referenceAllele": "G",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "XM_005273504.3:c.436G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005273561.1:p.Gly146Trp",
        "hgvsWellDefined": "XP_005273561.1:p.Gly146Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA105766",
      "coordinates": [
        {
          "allele": "T",
          "end": 551,
          "referenceAllele": "G",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_177924.5:c.502G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_808592.2:p.Gly168Trp",
        "hgvsWellDefined": "NP_808592.2:p.Gly168Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672816",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000637790.2:c.502G>T"
          },
          "RefSeq": {
            "hgvs": "NM_177924.5:c.502G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490272.1:p.Gly168Trp"
          },
          "RefSeq": {
            "hgvs": "NP_808592.2:p.Gly168Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825624595",
      "coordinates": [
        {
          "allele": "T",
          "end": 644,
          "referenceAllele": "G",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001127505.3:c.484G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120977.1:p.Gly162Trp",
        "hgvsWellDefined": "NP_001120977.1:p.Gly162Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676901"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828108494",
      "coordinates": [
        {
          "allele": "T",
          "end": 499,
          "referenceAllele": "G",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_001363743.2:c.307G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350672.1:p.Gly103Trp",
        "hgvsWellDefined": "NP_001350672.1:p.Gly103Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916011552",
      "coordinates": [
        {
          "allele": "T",
          "end": 710,
          "referenceAllele": "G",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NM_004315.6:c.550G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004306.3:p.Gly184Trp",
        "hgvsWellDefined": "NP_004306.3:p.Gly184Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696102"
    }
  ],
  "type": "nucleotide"
}