{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8238230",
  "communityStandardTitle": [
    "NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=375624[alleleid]",
        "alleleId": 375624,
        "preferredName": "NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/377432",
        "RCV": [
          "RCV000444454",
          "RCV001245382",
          "RCV002282137"
        ],
        "variationId": 377432
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-89211778-G-C",
        "id": "16-89211778-G-C",
        "variant": "16:89211778 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89211778G>C?assembly=hg19",
        "id": "chr16:g.89211778G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89145370G>C?assembly=hg38",
        "id": "chr16:g.89145370G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/147538370",
        "rs": 147538370
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89211778-G-C?dataset=gnomad_r2_1",
        "id": "16-89211778-G-C",
        "variant": "16:89211778 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89145370-G-C?dataset=gnomad_r3",
        "id": "16-89145370-G-C",
        "variant": "16:89145370 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89145370-G-C?dataset=gnomad_r4",
        "id": "16-89145370-G-C",
        "variant": "16:89145370 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 89145370,
          "referenceAllele": "G",
          "start": 89145369
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89145370G>C",
        "CM000678.2:g.89145370G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 89211778,
          "referenceAllele": "G",
          "start": 89211777
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89211778G>C",
        "CM000678.1:g.89211778G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 87739279,
          "referenceAllele": "G",
          "start": 87739278
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87739279G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 56562,
          "referenceAllele": "G",
          "start": 56561
        }
      ],
      "hgvs": [
        "NG_031961.1:g.56562G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005056"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1804,
          "referenceAllele": "G",
          "start": 1803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000317447.9:c.1470G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320646.4:p.Glu490Asp",
        "hgvsWellDefined": "ENSP00000320646.4:p.Glu490Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1808,
          "referenceAllele": "G",
          "start": 1807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000614302.5:c.1470G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479130.1:p.Glu490Asp",
        "hgvsWellDefined": "ENSP00000479130.1:p.Glu490Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761960",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000614302.5:c.1470G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001243279.3:c.1470G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000479130.1:p.Glu490Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001230208.1:p.Glu490Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1700,
          "referenceAllele": "G",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000649953.1:c.1680G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497456.1:p.Glu560Asp",
        "hgvsWellDefined": "ENSP00000497456.1:p.Glu560Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770860"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1847,
          "referenceAllele": "G",
          "start": 1846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000317447.8:c.1470G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320646.4:p.Glu490Asp",
        "hgvsWellDefined": "ENSP00000320646.4:p.Glu490Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257374"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 899,
          "referenceAllele": "G",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000378345.8:c.675G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367596.4:p.Glu225Asp",
        "hgvsWellDefined": "ENSP00000367596.4:p.Glu225Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271995"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1604,
          "referenceAllele": "G",
          "start": 1603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000406948.7:c.1470G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384627.3:p.Glu490Asp",
        "hgvsWellDefined": "ENSP00000384627.3:p.Glu490Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 596,
          "referenceAllele": "G",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000537116.5:n.596G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360615"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 210,
          "referenceAllele": "G",
          "start": 209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000537155.1:n.210G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360630"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1430,
          "referenceAllele": "G",
          "start": 1429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000542688.5:c.*214G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446281.1:n.*214G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363599"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 853,
          "referenceAllele": "G",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000544543.5:c.675G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442781.1:p.Glu225Asp",
        "hgvsWellDefined": "ENSP00000442781.1:p.Glu225Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364628"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 443,
          "referenceAllele": "G",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000562204.1:n.443G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376633"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1851,
          "referenceAllele": "G",
          "start": 1850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000614302.4:c.1470G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479130.1:p.Glu490Asp",
        "hgvsWellDefined": "ENSP00000479130.1:p.Glu490Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402124"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825631654",
      "coordinates": [
        {
          "allele": "C",
          "end": 1678,
          "referenceAllele": "G",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001127214.3:c.1470G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120686.1:p.Glu490Asp",
        "hgvsWellDefined": "NP_001120686.1:p.Glu490Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826326369",
      "coordinates": [
        {
          "allele": "C",
          "end": 1851,
          "referenceAllele": "G",
          "start": 1850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001243279.2:c.1470G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230208.1:p.Glu490Asp",
        "hgvsWellDefined": "NP_001230208.1:p.Glu490Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018478"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826689145",
      "coordinates": [
        {
          "allele": "C",
          "end": 988,
          "referenceAllele": "G",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001284316.1:c.675G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271245.1:p.Glu225Asp",
        "hgvsWellDefined": "NP_001271245.1:p.Glu225Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645502949",
      "coordinates": [
        {
          "allele": "C",
          "end": 1847,
          "referenceAllele": "G",
          "start": 1846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_174917.4:c.1470G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_777577.2:p.Glu490Asp",
        "hgvsWellDefined": "NP_777577.2:p.Glu490Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043093"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 596,
          "referenceAllele": "G",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_045667.2:n.596G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051388"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1904,
          "referenceAllele": "G",
          "start": 1903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_104293.1:n.1904G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053369"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1814,
          "referenceAllele": "G",
          "start": 1813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_005256293.1:c.1470G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256350.1:p.Glu490Asp",
        "hgvsWellDefined": "XP_005256350.1:p.Glu490Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061254"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1791,
          "referenceAllele": "G",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_011522942.1:c.1470G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521244.1:p.Glu490Asp",
        "hgvsWellDefined": "XP_011521244.1:p.Glu490Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090084"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1638,
          "referenceAllele": "G",
          "start": 1637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_011522943.1:c.1470G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521245.1:p.Glu490Asp",
        "hgvsWellDefined": "XP_011521245.1:p.Glu490Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090085"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1911,
          "referenceAllele": "G",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_933239.1:n.1911G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128939"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1908,
          "referenceAllele": "G",
          "start": 1907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_933240.1:n.1908G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128940"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1665,
          "referenceAllele": "G",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_933241.1:n.1665G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128941"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1948,
          "referenceAllele": "G",
          "start": 1947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_147928.1:n.1948G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530911"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1702,
          "referenceAllele": "G",
          "start": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_147929.1:n.1702G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530912"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1813,
          "referenceAllele": "G",
          "start": 1812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_005256293.2:c.1470G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256350.1:p.Glu490Asp",
        "hgvsWellDefined": "XP_005256350.1:p.Glu490Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534449"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1772,
          "referenceAllele": "G",
          "start": 1771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_017023018.1:c.1470G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878507.1:p.Glu490Asp",
        "hgvsWellDefined": "XP_016878507.1:p.Glu490Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573845"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1813,
          "referenceAllele": "G",
          "start": 1812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_017023019.1:c.1470G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878508.1:p.Glu490Asp",
        "hgvsWellDefined": "XP_016878508.1:p.Glu490Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573846"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1037,
          "referenceAllele": "G",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_017023020.2:c.-3635G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878509.1:n.-3635G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573847"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1305,
          "referenceAllele": "G",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_017023022.1:c.603G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878511.1:p.Glu201Asp",
        "hgvsWellDefined": "XP_016878511.1:p.Glu201Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573849"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 947,
          "referenceAllele": "G",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_024450186.1:c.675G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305954.1:p.Glu225Asp",
        "hgvsWellDefined": "XP_024305954.1:p.Glu225Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583727"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 923,
          "referenceAllele": "G",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_024450187.1:c.675G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305955.1:p.Glu225Asp",
        "hgvsWellDefined": "XP_024305955.1:p.Glu225Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583728"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1717,
          "referenceAllele": "G",
          "start": 1716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_001751864.2:n.1717G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598660"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1664,
          "referenceAllele": "G",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_001751865.1:n.1664G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598661"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1907,
          "referenceAllele": "G",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_933240.3:n.1907G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610397"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825631654",
      "coordinates": [
        {
          "allele": "C",
          "end": 1635,
          "referenceAllele": "G",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001127214.4:c.1470G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120686.1:p.Glu490Asp",
        "hgvsWellDefined": "NP_001120686.1:p.Glu490Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676853"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826326369",
      "coordinates": [
        {
          "allele": "C",
          "end": 1808,
          "referenceAllele": "G",
          "start": 1807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001243279.3:c.1470G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230208.1:p.Glu490Asp",
        "hgvsWellDefined": "NP_001230208.1:p.Glu490Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680213",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000614302.5:c.1470G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001243279.3:c.1470G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000479130.1:p.Glu490Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001230208.1:p.Glu490Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826689145",
      "coordinates": [
        {
          "allele": "C",
          "end": 945,
          "referenceAllele": "G",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001284316.2:c.675G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271245.1:p.Glu225Asp",
        "hgvsWellDefined": "NP_001271245.1:p.Glu225Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645502949",
      "coordinates": [
        {
          "allele": "C",
          "end": 1804,
          "referenceAllele": "G",
          "start": 1803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_174917.5:c.1470G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_777577.2:p.Glu490Asp",
        "hgvsWellDefined": "NP_777577.2:p.Glu490Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700677"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1861,
          "referenceAllele": "G",
          "start": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_104293.2:n.1861G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1905,
          "referenceAllele": "G",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_147928.2:n.1905G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704609"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1659,
          "referenceAllele": "G",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_147929.2:n.1659G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704610"
    }
  ],
  "type": "nucleotide"
}