{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2241496005",
  "communityStandardTitle": [
    "NM_001243279.3(ACSF3):c.1073C= (p.Thr358=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387907120",
        "rs": 387907120
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 89114434,
          "referenceAllele": "C",
          "start": 89114433
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89114434C=",
        "CM000678.2:g.89114434C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 89180842,
          "referenceAllele": "C",
          "start": 89180841
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89180842C=",
        "CM000678.1:g.89180842C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 87708343,
          "referenceAllele": "C",
          "start": 87708342
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87708343C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 25626,
          "referenceAllele": "C",
          "start": 25625
        }
      ],
      "hgvs": [
        "NG_031961.1:g.25626C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005056"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1407,
          "referenceAllele": "C",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000317447.9:c.1073C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320646.4:p.Thr358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1411,
          "referenceAllele": "C",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000614302.5:c.1073C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479130.1:p.Thr358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761960",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000614302.5:c.1073C="
          },
          "RefSeq": {
            "hgvs": "NM_001243279.3:c.1073C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000479130.1:p.Thr358="
          },
          "RefSeq": {
            "hgvs": "NP_001230208.1:p.Thr358="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1093,
          "referenceAllele": "C",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000649953.1:c.1073C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497456.1:p.Thr358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770860"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1450,
          "referenceAllele": "C",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000317447.8:c.1073C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320646.4:p.Thr358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257374"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 502,
          "referenceAllele": "C",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000378345.8:c.278C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367596.4:p.Thr93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271995"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1207,
          "referenceAllele": "C",
          "start": 1206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000406948.7:c.1073C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384627.3:p.Thr358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 511,
          "referenceAllele": "C",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000537895.5:c.278C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439201.1:p.Thr93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 302,
          "endIntronDirection": "+",
          "endIntronOffset": 2188,
          "referenceAllele": "C",
          "start": 302,
          "startIntronDirection": "+",
          "startIntronOffset": 2187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000538340.5:c.302+2188C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445870.1:n.302+2188C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361267"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 536,
          "referenceAllele": "C",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000540697.5:c.278C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445397.1:p.Thr93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362538"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1086,
          "endIntronDirection": "+",
          "endIntronOffset": 2188,
          "referenceAllele": "C",
          "start": 1086,
          "startIntronDirection": "+",
          "startIntronOffset": 2187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000542688.5:c.977+2188C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446281.1:n.977+2188C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363599"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 315,
          "referenceAllele": "C",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000543676.1:c.315C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 456,
          "referenceAllele": "C",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000544543.5:c.278C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442781.1:p.Thr93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364628"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 46,
          "endIntronDirection": "+",
          "endIntronOffset": 2188,
          "referenceAllele": "C",
          "start": 46,
          "startIntronDirection": "+",
          "startIntronOffset": 2187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000562204.1:n.46+2188C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376633"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1454,
          "referenceAllele": "C",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000614302.4:c.1073C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479130.1:p.Thr358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402124"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825631488",
      "coordinates": [
        {
          "allele": "C",
          "end": 1281,
          "referenceAllele": "C",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001127214.3:c.1073C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001120686.1:p.Thr358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826326253",
      "coordinates": [
        {
          "allele": "C",
          "end": 1454,
          "referenceAllele": "C",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001243279.2:c.1073C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001230208.1:p.Thr358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018478"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826689036",
      "coordinates": [
        {
          "allele": "C",
          "end": 591,
          "referenceAllele": "C",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001284316.1:c.278C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001271245.1:p.Thr93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830373614",
      "coordinates": [
        {
          "allele": "C",
          "end": 1450,
          "referenceAllele": "C",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_174917.4:c.1073C="
      ],
      "proteinEffect": {
        "hgvs": "NP_777577.2:p.Thr358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043093"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1454,
          "referenceAllele": "C",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_104293.1:n.1454C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053369"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1417,
          "referenceAllele": "C",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_005256293.1:c.1073C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005256350.1:p.Thr358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061254"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1394,
          "referenceAllele": "C",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_011522942.1:c.1073C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521244.1:p.Thr358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090084"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1241,
          "referenceAllele": "C",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_011522943.1:c.1073C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521245.1:p.Thr358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090085"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1417,
          "referenceAllele": "C",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_011522944.1:c.1073C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011521246.1:p.Thr358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090086"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1417,
          "referenceAllele": "C",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_933238.1:n.1417C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128938"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1417,
          "referenceAllele": "C",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_933239.1:n.1417C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128939"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1417,
          "referenceAllele": "C",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_933240.1:n.1417C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128940"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1321,
          "endIntronDirection": "+",
          "endIntronOffset": 2188,
          "referenceAllele": "C",
          "start": 1321,
          "startIntronDirection": "+",
          "startIntronOffset": 2187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_933241.1:n.1321+2188C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128941"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1454,
          "referenceAllele": "C",
          "start": 1453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_147928.1:n.1454C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530911"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1358,
          "endIntronDirection": "+",
          "endIntronOffset": 2188,
          "referenceAllele": "C",
          "start": 1358,
          "startIntronDirection": "+",
          "startIntronOffset": 2187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_147929.1:n.1358+2188C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530912"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1416,
          "referenceAllele": "C",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_005256293.2:c.1073C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005256350.1:p.Thr358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534449"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1375,
          "referenceAllele": "C",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_017023018.1:c.1073C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878507.1:p.Thr358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573845"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1416,
          "referenceAllele": "C",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_017023019.1:c.1073C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878508.1:p.Thr358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573846"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 640,
          "endIntronDirection": "+",
          "endIntronOffset": 2188,
          "referenceAllele": "C",
          "start": 640,
          "startIntronDirection": "+",
          "startIntronOffset": 2187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_017023020.2:c.-4032+2188C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878509.1:n.-4032+2188C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573847"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1416,
          "referenceAllele": "C",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_017023021.1:c.1073C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878510.1:p.Thr358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573848"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 550,
          "referenceAllele": "C",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_024450186.1:c.278C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024305954.1:p.Thr93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583727"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 526,
          "referenceAllele": "C",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_024450187.1:c.278C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024305955.1:p.Thr93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583728"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1320,
          "endIntronDirection": "+",
          "endIntronOffset": 2188,
          "referenceAllele": "C",
          "start": 1320,
          "startIntronDirection": "+",
          "startIntronOffset": 2187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_001751864.2:n.1320+2188C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598660"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1320,
          "endIntronDirection": "+",
          "endIntronOffset": 2188,
          "referenceAllele": "C",
          "start": 1320,
          "startIntronDirection": "+",
          "startIntronOffset": 2187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_001751865.1:n.1320+2188C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598661"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1416,
          "referenceAllele": "C",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_933238.2:n.1416C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610396"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1416,
          "referenceAllele": "C",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_933240.3:n.1416C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610397"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825631488",
      "coordinates": [
        {
          "allele": "C",
          "end": 1238,
          "referenceAllele": "C",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001127214.4:c.1073C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001120686.1:p.Thr358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676853"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826326253",
      "coordinates": [
        {
          "allele": "C",
          "end": 1411,
          "referenceAllele": "C",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001243279.3:c.1073C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001230208.1:p.Thr358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680213",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000614302.5:c.1073C="
          },
          "RefSeq": {
            "hgvs": "NM_001243279.3:c.1073C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000479130.1:p.Thr358="
          },
          "RefSeq": {
            "hgvs": "NP_001230208.1:p.Thr358="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826689036",
      "coordinates": [
        {
          "allele": "C",
          "end": 548,
          "referenceAllele": "C",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001284316.2:c.278C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001271245.1:p.Thr93="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830373614",
      "coordinates": [
        {
          "allele": "C",
          "end": 1407,
          "referenceAllele": "C",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_174917.5:c.1073C="
      ],
      "proteinEffect": {
        "hgvs": "NP_777577.2:p.Thr358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700677"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1411,
          "referenceAllele": "C",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_104293.2:n.1411C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1411,
          "referenceAllele": "C",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_147928.2:n.1411C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704609"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1315,
          "endIntronDirection": "+",
          "endIntronOffset": 2188,
          "referenceAllele": "C",
          "start": 1315,
          "startIntronDirection": "+",
          "startIntronOffset": 2187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_147929.2:n.1315+2188C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704610"
    }
  ],
  "type": "nucleotide"
}