{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA497119107",
  "communityStandardTitle": [
    "NM_001243279.3(ACSF3):c.858G>C (p.Arg286=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1656297[alleleid]",
        "alleleId": 1656297,
        "preferredName": "NM_001243279.3(ACSF3):c.858G>C (p.Arg286=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1566359",
        "RCV": [
          "RCV002220350"
        ],
        "variationId": 1566359
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89178535G>C?assembly=hg19",
        "id": "chr16:g.89178535G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1378884062",
        "rs": 1378884062
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89112127-G-C?dataset=gnomad_r4",
        "id": "16-89112127-G-C",
        "variant": "16:89112127 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 89112127,
          "referenceAllele": "G",
          "start": 89112126
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89112127G>C",
        "CM000678.2:g.89112127G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 89178535,
          "referenceAllele": "G",
          "start": 89178534
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89178535G>C",
        "CM000678.1:g.89178535G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 87706036,
          "referenceAllele": "G",
          "start": 87706035
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87706036G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 23319,
          "referenceAllele": "G",
          "start": 23318
        }
      ],
      "hgvs": [
        "NG_031961.1:g.23319G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005056"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1192,
          "referenceAllele": "G",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000317447.9:c.858G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320646.4:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1196,
          "referenceAllele": "G",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000614302.5:c.858G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479130.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761960",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000614302.5:c.858G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001243279.3:c.858G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000479130.1:p.Arg286="
          },
          "RefSeq": {
            "hgvs": "NP_001230208.1:p.Arg286="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 878,
          "referenceAllele": "G",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000649953.1:c.858G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497456.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770860"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1235,
          "referenceAllele": "G",
          "start": 1234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000317447.8:c.858G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320646.4:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257374"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 287,
          "referenceAllele": "G",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000378345.8:c.63G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367596.4:p.Arg21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271995"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 992,
          "referenceAllele": "G",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000406948.7:c.858G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384627.3:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 296,
          "referenceAllele": "G",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000537895.5:c.63G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439201.1:p.Arg21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 183,
          "referenceAllele": "G",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000538340.5:c.183G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445870.1:p.Arg61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361267"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 321,
          "referenceAllele": "G",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000540697.5:c.63G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445397.1:p.Arg21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362538"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 967,
          "referenceAllele": "G",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000542688.5:c.858G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446281.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363599"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 100,
          "referenceAllele": "G",
          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000543676.1:c.100G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 241,
          "referenceAllele": "G",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000544543.5:c.63G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442781.1:p.Arg21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364628"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1239,
          "referenceAllele": "G",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000614302.4:c.858G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479130.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402124"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825631399",
      "coordinates": [
        {
          "allele": "C",
          "end": 1066,
          "referenceAllele": "G",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001127214.3:c.858G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120686.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826326196",
      "coordinates": [
        {
          "allele": "C",
          "end": 1239,
          "referenceAllele": "G",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001243279.2:c.858G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230208.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018478"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826689002",
      "coordinates": [
        {
          "allele": "C",
          "end": 376,
          "referenceAllele": "G",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001284316.1:c.63G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271245.1:p.Arg21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830373531",
      "coordinates": [
        {
          "allele": "C",
          "end": 1235,
          "referenceAllele": "G",
          "start": 1234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_174917.4:c.858G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_777577.2:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043093"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1239,
          "referenceAllele": "G",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_104293.1:n.1239G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053369"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1202,
          "referenceAllele": "G",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_005256293.1:c.858G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256350.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061254"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1179,
          "referenceAllele": "G",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_011522942.1:c.858G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521244.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090084"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1026,
          "referenceAllele": "G",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_011522943.1:c.858G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521245.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090085"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1202,
          "referenceAllele": "G",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_011522944.1:c.858G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521246.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090086"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1202,
          "referenceAllele": "G",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_933238.1:n.1202G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128938"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1202,
          "referenceAllele": "G",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_933239.1:n.1202G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128939"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1202,
          "referenceAllele": "G",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_933240.1:n.1202G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128940"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1202,
          "referenceAllele": "G",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_933241.1:n.1202G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128941"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1239,
          "referenceAllele": "G",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_147928.1:n.1239G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530911"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1239,
          "referenceAllele": "G",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_147929.1:n.1239G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530912"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1201,
          "referenceAllele": "G",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_005256293.2:c.858G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256350.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534449"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1160,
          "referenceAllele": "G",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_017023018.1:c.858G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878507.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573845"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1201,
          "referenceAllele": "G",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_017023019.1:c.858G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878508.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573846"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 521,
          "referenceAllele": "G",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_017023020.2:c.-4151G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878509.1:n.-4151G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573847"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1201,
          "referenceAllele": "G",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_017023021.1:c.858G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878510.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573848"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 335,
          "referenceAllele": "G",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_024450186.1:c.63G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305954.1:p.Arg21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583727"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 311,
          "referenceAllele": "G",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_024450187.1:c.63G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305955.1:p.Arg21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583728"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1201,
          "referenceAllele": "G",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_001751864.2:n.1201G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598660"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1201,
          "referenceAllele": "G",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_001751865.1:n.1201G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598661"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1201,
          "referenceAllele": "G",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_933238.2:n.1201G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610396"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1201,
          "referenceAllele": "G",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_933240.3:n.1201G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610397"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825631399",
      "coordinates": [
        {
          "allele": "C",
          "end": 1023,
          "referenceAllele": "G",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001127214.4:c.858G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120686.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676853"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826326196",
      "coordinates": [
        {
          "allele": "C",
          "end": 1196,
          "referenceAllele": "G",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001243279.3:c.858G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230208.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680213",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000614302.5:c.858G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001243279.3:c.858G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000479130.1:p.Arg286="
          },
          "RefSeq": {
            "hgvs": "NP_001230208.1:p.Arg286="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826689002",
      "coordinates": [
        {
          "allele": "C",
          "end": 333,
          "referenceAllele": "G",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001284316.2:c.63G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271245.1:p.Arg21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830373531",
      "coordinates": [
        {
          "allele": "C",
          "end": 1192,
          "referenceAllele": "G",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_174917.5:c.858G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_777577.2:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700677"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1196,
          "referenceAllele": "G",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_104293.2:n.1196G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1196,
          "referenceAllele": "G",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_147928.2:n.1196G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704609"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1196,
          "referenceAllele": "G",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_147929.2:n.1196G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704610"
    }
  ],
  "type": "nucleotide"
}