{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA382507084",
  "communityStandardTitle": [
    "NM_000019.4(ACAT1):c.455G>T (p.Gly152Val)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108009644G>T?assembly=hg19",
        "id": "chr11:g.108009644G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108138917G>T?assembly=hg38",
        "id": "chr11:g.108138917G>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 108138917,
          "referenceAllele": "G",
          "start": 108138916
        }
      ],
      "hgvs": [
        "NC_000011.10:g.108138917G>T",
        "CM000673.2:g.108138917G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 108009644,
          "referenceAllele": "G",
          "start": 108009643
        }
      ],
      "hgvs": [
        "NC_000011.9:g.108009644G>T",
        "CM000673.1:g.108009644G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 107514854,
          "referenceAllele": "G",
          "start": 107514853
        }
      ],
      "hgvs": [
        "NC_000011.8:g.107514854G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22387,
          "referenceAllele": "G",
          "start": 22386
        }
      ],
      "hgvs": [
        "NG_009888.1:g.22387G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27213,
          "referenceAllele": "G",
          "start": 27212
        }
      ],
      "hgvs": [
        "NG_009888.2:g.27213G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706100"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "referenceAllele": "G",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000265838.9:c.455G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265838.4:p.Gly152Val",
        "hgvsWellDefined": "ENSP00000265838.4:p.Gly152Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742890",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265838.9:c.455G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000019.4:c.455G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265838.4:p.Gly152Val"
          },
          "RefSeq": {
            "hgvs": "NP_000010.1:p.Gly152Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000671707.1:n.550G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 348,
          "referenceAllele": "G",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000672008.1:c.*13G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500499.1:n.*13G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773237"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "referenceAllele": "G",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000672031.1:c.455G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500463.1:p.Gly152Val",
        "hgvsWellDefined": "ENSP00000500463.1:p.Gly152Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773246"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 591,
          "referenceAllele": "G",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000672284.1:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500444.1:p.Gly62Val",
        "hgvsWellDefined": "ENSP00000500444.1:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "G",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000672354.1:c.455G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500490.1:p.Gly152Val",
        "hgvsWellDefined": "ENSP00000500490.1:p.Gly152Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773358"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 132,
          "referenceAllele": "G",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000672367.1:c.92G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500209.1:p.Gly31Val",
        "hgvsWellDefined": "ENSP00000500209.1:p.Gly31Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 509,
          "referenceAllele": "G",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000672580.1:c.455G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500366.1:p.Gly152Val",
        "hgvsWellDefined": "ENSP00000500366.1:p.Gly152Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 180,
          "referenceAllele": "G",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000672907.1:c.140G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500928.1:p.Gly47Val",
        "hgvsWellDefined": "ENSP00000500928.1:p.Gly47Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 543,
          "referenceAllele": "G",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000673000.1:n.543G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773569"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 589,
          "referenceAllele": "G",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000673531.1:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500163.1:p.Gly62Val",
        "hgvsWellDefined": "ENSP00000500163.1:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773714"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "G",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000265838.8:c.455G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265838.4:p.Gly152Val",
        "hgvsWellDefined": "ENSP00000265838.4:p.Gly152Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 261,
          "referenceAllele": "G",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000528370.1:c.261G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353919"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 377,
          "referenceAllele": "G",
          "start": 376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000531813.5:c.354G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435965.1:p.Trp118Cys",
        "hgvsWellDefined": "ENSP00000435965.1:p.Trp118Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356842"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 198,
          "referenceAllele": "G",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "ENST00000534773.1:n.198G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359333"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 531,
          "referenceAllele": "G",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_000019.3:c.455G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000010.1:p.Gly152Val",
        "hgvsWellDefined": "NP_000010.1:p.Gly152Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 472,
          "referenceAllele": "G",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_006718834.2:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718897.1:p.Gly62Val",
        "hgvsWellDefined": "XP_006718897.1:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072814"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 514,
          "referenceAllele": "G",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_006718835.2:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718898.1:p.Gly62Val",
        "hgvsWellDefined": "XP_006718898.1:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072815"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 514,
          "referenceAllele": "G",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_006718835.3:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718898.1:p.Gly62Val",
        "hgvsWellDefined": "XP_006718898.1:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 610,
          "referenceAllele": "G",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_017017681.1:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873170.1:p.Gly62Val",
        "hgvsWellDefined": "XP_016873170.1:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569806"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 394,
          "referenceAllele": "G",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_017017682.2:c.77G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873171.1:p.Gly26Val",
        "hgvsWellDefined": "XP_016873171.1:p.Gly26Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 487,
          "referenceAllele": "G",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_017017683.2:c.77G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873172.1:p.Gly26Val",
        "hgvsWellDefined": "XP_016873172.1:p.Gly26Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 603,
          "referenceAllele": "G",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_024448511.1:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304279.1:p.Gly62Val",
        "hgvsWellDefined": "XP_024304279.1:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "G",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_024448512.1:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304280.1:p.Gly62Val",
        "hgvsWellDefined": "XP_024304280.1:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 481,
          "referenceAllele": "G",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_024448513.1:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304281.1:p.Gly62Val",
        "hgvsWellDefined": "XP_024304281.1:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 687,
          "referenceAllele": "G",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_024448514.1:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304282.1:p.Gly62Val",
        "hgvsWellDefined": "XP_024304282.1:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 482,
          "referenceAllele": "G",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "XM_024448515.1:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304283.1:p.Gly62Val",
        "hgvsWellDefined": "XP_024304283.1:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "referenceAllele": "G",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_000019.4:c.455G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000010.1:p.Gly152Val",
        "hgvsWellDefined": "NP_000010.1:p.Gly152Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674670",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265838.9:c.455G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000019.4:c.455G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265838.4:p.Gly152Val"
          },
          "RefSeq": {
            "hgvs": "NP_000010.1:p.Gly152Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "referenceAllele": "G",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386677.1:c.455G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373606.1:p.Gly152Val",
        "hgvsWellDefined": "NP_001373606.1:p.Gly152Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 180,
          "referenceAllele": "G",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386678.1:c.140G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373607.1:p.Gly47Val",
        "hgvsWellDefined": "NP_001373607.1:p.Gly47Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 475,
          "referenceAllele": "G",
          "start": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386679.1:c.158G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373608.1:p.Gly53Val",
        "hgvsWellDefined": "NP_001373608.1:p.Gly53Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724569"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "G",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386681.1:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373610.1:p.Gly62Val",
        "hgvsWellDefined": "NP_001373610.1:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 798,
          "referenceAllele": "G",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386682.1:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373611.1:p.Gly62Val",
        "hgvsWellDefined": "NP_001373611.1:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724571"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 589,
          "referenceAllele": "G",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386685.1:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373614.1:p.Gly62Val",
        "hgvsWellDefined": "NP_001373614.1:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724572"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 594,
          "referenceAllele": "G",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386686.1:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373615.1:p.Gly62Val",
        "hgvsWellDefined": "NP_001373615.1:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 608,
          "referenceAllele": "G",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386687.1:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373616.1:p.Gly62Val",
        "hgvsWellDefined": "NP_001373616.1:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 613,
          "referenceAllele": "G",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386688.1:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373617.1:p.Gly62Val",
        "hgvsWellDefined": "NP_001373617.1:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 481,
          "referenceAllele": "G",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386689.1:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373618.1:p.Gly62Val",
        "hgvsWellDefined": "NP_001373618.1:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 514,
          "referenceAllele": "G",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386690.1:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373619.1:p.Gly62Val",
        "hgvsWellDefined": "NP_001373619.1:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 792,
          "referenceAllele": "G",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NM_001386691.1:c.185G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373620.1:p.Gly62Val",
        "hgvsWellDefined": "NP_001373620.1:p.Gly62Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724578"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "referenceAllele": "G",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NR_170162.1:n.495G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732463"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 488,
          "referenceAllele": "G",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000093",
      "geneNCBI_id": 38,
      "geneSymbol": "ACAT1",
      "hgvs": [
        "NR_170163.1:n.488G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732464"
    }
  ],
  "type": "nucleotide"
}