{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA129709",
  "communityStandardTitle": [
    "NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2922779",
        "active": true,
        "id": "COSM2922779"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=40094[alleleid]",
        "alleleId": 40094,
        "preferredName": "NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31137",
        "RCV": [
          "RCV000024133",
          "RCV001588825",
          "RCV001274022"
        ],
        "variationId": 31137
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-89211719-C-T",
        "id": "16-89211719-C-T",
        "variant": "16:89211719 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89211719C>T?assembly=hg19",
        "id": "chr16:g.89211719C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89145311C>T?assembly=hg38",
        "id": "chr16:g.89145311C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/138680796",
        "rs": 138680796
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89211719-C-T?dataset=gnomad_r2_1",
        "id": "16-89211719-C-T",
        "variant": "16:89211719 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89145311-C-T?dataset=gnomad_r3",
        "id": "16-89145311-C-T",
        "variant": "16:89145311 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89145311-C-T?dataset=gnomad_r4",
        "id": "16-89145311-C-T",
        "variant": "16:89145311 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 89145311,
          "referenceAllele": "C",
          "start": 89145310
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89145311C>T",
        "CM000678.2:g.89145311C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 89211719,
          "referenceAllele": "C",
          "start": 89211718
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89211719C>T",
        "CM000678.1:g.89211719C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 87739220,
          "referenceAllele": "C",
          "start": 87739219
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87739220C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 56503,
          "referenceAllele": "C",
          "start": 56502
        }
      ],
      "hgvs": [
        "NG_031961.1:g.56503C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005056"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1745,
          "referenceAllele": "C",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000317447.9:c.1411C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320646.4:p.Arg471Trp",
        "hgvsWellDefined": "ENSP00000320646.4:p.Arg471Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1749,
          "referenceAllele": "C",
          "start": 1748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000614302.5:c.1411C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479130.1:p.Arg471Trp",
        "hgvsWellDefined": "ENSP00000479130.1:p.Arg471Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761960",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000614302.5:c.1411C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001243279.3:c.1411C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000479130.1:p.Arg471Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001230208.1:p.Arg471Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1641,
          "referenceAllele": "C",
          "start": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000649953.1:c.1621C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497456.1:p.Arg541Trp",
        "hgvsWellDefined": "ENSP00000497456.1:p.Arg541Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770860"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1788,
          "referenceAllele": "C",
          "start": 1787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000317447.8:c.1411C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320646.4:p.Arg471Trp",
        "hgvsWellDefined": "ENSP00000320646.4:p.Arg471Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 840,
          "referenceAllele": "C",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000378345.8:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367596.4:p.Arg206Trp",
        "hgvsWellDefined": "ENSP00000367596.4:p.Arg206Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1545,
          "referenceAllele": "C",
          "start": 1544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000406948.7:c.1411C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384627.3:p.Arg471Trp",
        "hgvsWellDefined": "ENSP00000384627.3:p.Arg471Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 537,
          "referenceAllele": "C",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000537116.5:n.537C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360615"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 151,
          "referenceAllele": "C",
          "start": 150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000537155.1:n.151C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1371,
          "referenceAllele": "C",
          "start": 1370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000542688.5:c.*155C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446281.1:n.*155C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363599"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 794,
          "referenceAllele": "C",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000544543.5:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442781.1:p.Arg206Trp",
        "hgvsWellDefined": "ENSP00000442781.1:p.Arg206Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364628"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 384,
          "referenceAllele": "C",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000562204.1:n.384C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1792,
          "referenceAllele": "C",
          "start": 1791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000614302.4:c.1411C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479130.1:p.Arg471Trp",
        "hgvsWellDefined": "ENSP00000479130.1:p.Arg471Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402124"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102798",
      "coordinates": [
        {
          "allele": "T",
          "end": 1619,
          "referenceAllele": "C",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001127214.3:c.1411C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120686.1:p.Arg471Trp",
        "hgvsWellDefined": "NP_001120686.1:p.Arg471Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826326354",
      "coordinates": [
        {
          "allele": "T",
          "end": 1792,
          "referenceAllele": "C",
          "start": 1791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001243279.2:c.1411C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230208.1:p.Arg471Trp",
        "hgvsWellDefined": "NP_001230208.1:p.Arg471Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018478"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826689130",
      "coordinates": [
        {
          "allele": "T",
          "end": 929,
          "referenceAllele": "C",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001284316.1:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271245.1:p.Arg206Trp",
        "hgvsWellDefined": "NP_001271245.1:p.Arg206Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA129710",
      "coordinates": [
        {
          "allele": "T",
          "end": 1788,
          "referenceAllele": "C",
          "start": 1787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_174917.4:c.1411C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_777577.2:p.Arg471Trp",
        "hgvsWellDefined": "NP_777577.2:p.Arg471Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043093"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 537,
          "referenceAllele": "C",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_045667.2:n.537C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1845,
          "referenceAllele": "C",
          "start": 1844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_104293.1:n.1845C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053369"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1755,
          "referenceAllele": "C",
          "start": 1754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_005256293.1:c.1411C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256350.1:p.Arg471Trp",
        "hgvsWellDefined": "XP_005256350.1:p.Arg471Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1732,
          "referenceAllele": "C",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_011522942.1:c.1411C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521244.1:p.Arg471Trp",
        "hgvsWellDefined": "XP_011521244.1:p.Arg471Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1579,
          "referenceAllele": "C",
          "start": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_011522943.1:c.1411C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521245.1:p.Arg471Trp",
        "hgvsWellDefined": "XP_011521245.1:p.Arg471Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1852,
          "referenceAllele": "C",
          "start": 1851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_933239.1:n.1852C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128939"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1849,
          "referenceAllele": "C",
          "start": 1848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_933240.1:n.1849C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1606,
          "referenceAllele": "C",
          "start": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_933241.1:n.1606C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128941"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1889,
          "referenceAllele": "C",
          "start": 1888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_147928.1:n.1889C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530911"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1643,
          "referenceAllele": "C",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_147929.1:n.1643C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1754,
          "referenceAllele": "C",
          "start": 1753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_005256293.2:c.1411C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256350.1:p.Arg471Trp",
        "hgvsWellDefined": "XP_005256350.1:p.Arg471Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534449"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1713,
          "referenceAllele": "C",
          "start": 1712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_017023018.1:c.1411C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878507.1:p.Arg471Trp",
        "hgvsWellDefined": "XP_016878507.1:p.Arg471Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573845"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1754,
          "referenceAllele": "C",
          "start": 1753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_017023019.1:c.1411C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878508.1:p.Arg471Trp",
        "hgvsWellDefined": "XP_016878508.1:p.Arg471Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573846"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 978,
          "referenceAllele": "C",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_017023020.2:c.-3694C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878509.1:n.-3694C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573847"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1246,
          "referenceAllele": "C",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_017023022.1:c.544C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878511.1:p.Arg182Trp",
        "hgvsWellDefined": "XP_016878511.1:p.Arg182Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573849"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 888,
          "referenceAllele": "C",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_024450186.1:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305954.1:p.Arg206Trp",
        "hgvsWellDefined": "XP_024305954.1:p.Arg206Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 864,
          "referenceAllele": "C",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_024450187.1:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305955.1:p.Arg206Trp",
        "hgvsWellDefined": "XP_024305955.1:p.Arg206Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1658,
          "referenceAllele": "C",
          "start": 1657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_001751864.2:n.1658C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1605,
          "referenceAllele": "C",
          "start": 1604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_001751865.1:n.1605C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598661"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1848,
          "referenceAllele": "C",
          "start": 1847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_933240.3:n.1848C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610397"
    },
    {
      "@id": "http://reg.genome.network/allele/PA102798",
      "coordinates": [
        {
          "allele": "T",
          "end": 1576,
          "referenceAllele": "C",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001127214.4:c.1411C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120686.1:p.Arg471Trp",
        "hgvsWellDefined": "NP_001120686.1:p.Arg471Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676853"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826326354",
      "coordinates": [
        {
          "allele": "T",
          "end": 1749,
          "referenceAllele": "C",
          "start": 1748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001243279.3:c.1411C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230208.1:p.Arg471Trp",
        "hgvsWellDefined": "NP_001230208.1:p.Arg471Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680213",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000614302.5:c.1411C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001243279.3:c.1411C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000479130.1:p.Arg471Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001230208.1:p.Arg471Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826689130",
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "referenceAllele": "C",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001284316.2:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271245.1:p.Arg206Trp",
        "hgvsWellDefined": "NP_001271245.1:p.Arg206Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA129710",
      "coordinates": [
        {
          "allele": "T",
          "end": 1745,
          "referenceAllele": "C",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_174917.5:c.1411C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_777577.2:p.Arg471Trp",
        "hgvsWellDefined": "NP_777577.2:p.Arg471Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1802,
          "referenceAllele": "C",
          "start": 1801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_104293.2:n.1802C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1846,
          "referenceAllele": "C",
          "start": 1845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_147928.2:n.1846C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704609"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1600,
          "referenceAllele": "C",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_147929.2:n.1600C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704610"
    }
  ],
  "type": "nucleotide"
}