{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397145463",
  "communityStandardTitle": [
    "NM_001243279.3(ACSF3):c.1311G>A (p.Trp437Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1063793[alleleid]",
        "alleleId": 1063793,
        "preferredName": "NM_001243279.3(ACSF3):c.1311G>A (p.Trp437Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1068650",
        "RCV": [
          "RCV001380278"
        ],
        "variationId": 1068650
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89199615G>A?assembly=hg19",
        "id": "chr16:g.89199615G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.89133207G>A?assembly=hg38",
        "id": "chr16:g.89133207G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1909702747",
        "rs": 1909702747
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-89133207-G-A?dataset=gnomad_r4",
        "id": "16-89133207-G-A",
        "variant": "16:89133207 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 89133207,
          "referenceAllele": "G",
          "start": 89133206
        }
      ],
      "hgvs": [
        "NC_000016.10:g.89133207G>A",
        "CM000678.2:g.89133207G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 89199615,
          "referenceAllele": "G",
          "start": 89199614
        }
      ],
      "hgvs": [
        "NC_000016.9:g.89199615G>A",
        "CM000678.1:g.89199615G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 87727116,
          "referenceAllele": "G",
          "start": 87727115
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87727116G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 44399,
          "referenceAllele": "G",
          "start": 44398
        }
      ],
      "hgvs": [
        "NG_031961.1:g.44399G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005056"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1645,
          "referenceAllele": "G",
          "start": 1644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000317447.9:c.1311G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320646.4:p.Trp437Ter",
        "hgvsWellDefined": "ENSP00000320646.4:p.Trp437_Ser576delinsAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1649,
          "referenceAllele": "G",
          "start": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000614302.5:c.1311G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479130.1:p.Trp437Ter",
        "hgvsWellDefined": "ENSP00000479130.1:p.Trp437_Ser576delinsAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761960",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000614302.5:c.1311G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001243279.3:c.1311G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000479130.1:p.Trp437Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001230208.1:p.Trp437Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1541,
          "referenceAllele": "G",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000649953.1:c.1521G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497456.1:p.Trp507Ter",
        "hgvsWellDefined": "ENSP00000497456.1:p.Trp507_Ser646delinsAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770860"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1688,
          "referenceAllele": "G",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000317447.8:c.1311G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320646.4:p.Trp437Ter",
        "hgvsWellDefined": "ENSP00000320646.4:p.Trp437_Ser576delinsAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 740,
          "referenceAllele": "G",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000378345.8:c.516G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367596.4:p.Trp172Ter",
        "hgvsWellDefined": "ENSP00000367596.4:p.Trp172_Ser311delinsAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271995"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1445,
          "referenceAllele": "G",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000406948.7:c.1311G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384627.3:p.Trp437Ter",
        "hgvsWellDefined": "ENSP00000384627.3:p.Trp437_Ser576delinsAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 774,
          "referenceAllele": "G",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000540697.5:c.516G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445397.1:p.Trp172Ter",
        "hgvsWellDefined": "ENSP00000445397.1:p.Trp172Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1271,
          "referenceAllele": "G",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000542688.5:c.*55G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446281.1:n.*55G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363599"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 694,
          "referenceAllele": "G",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000544543.5:c.516G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442781.1:p.Trp172Ter",
        "hgvsWellDefined": "ENSP00000442781.1:p.Trp172_Thr235del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364628"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 231,
          "referenceAllele": "G",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000562204.1:n.231G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1692,
          "referenceAllele": "G",
          "start": 1691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "ENST00000614302.4:c.1311G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479130.1:p.Trp437Ter",
        "hgvsWellDefined": "ENSP00000479130.1:p.Trp437_Ser576delinsAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402124"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825631602",
      "coordinates": [
        {
          "allele": "A",
          "end": 1519,
          "referenceAllele": "G",
          "start": 1518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001127214.3:c.1311G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120686.1:p.Trp437Ter",
        "hgvsWellDefined": "NP_001120686.1:p.Trp437_Ser576delinsAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826326324",
      "coordinates": [
        {
          "allele": "A",
          "end": 1692,
          "referenceAllele": "G",
          "start": 1691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001243279.2:c.1311G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230208.1:p.Trp437Ter",
        "hgvsWellDefined": "NP_001230208.1:p.Trp437_Ser576delinsAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018478"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826689100",
      "coordinates": [
        {
          "allele": "A",
          "end": 829,
          "referenceAllele": "G",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001284316.1:c.516G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271245.1:p.Trp172Ter",
        "hgvsWellDefined": "NP_001271245.1:p.Trp172_Ser311delinsAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139766604",
      "coordinates": [
        {
          "allele": "A",
          "end": 1688,
          "referenceAllele": "G",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_174917.4:c.1311G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_777577.2:p.Trp437Ter",
        "hgvsWellDefined": "NP_777577.2:p.Trp437_Ser576delinsAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1692,
          "referenceAllele": "G",
          "start": 1691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_104293.1:n.1692G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053369"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1655,
          "referenceAllele": "G",
          "start": 1654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_005256293.1:c.1311G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256350.1:p.Trp437Ter",
        "hgvsWellDefined": "XP_005256350.1:p.Trp437_Phe610delinsAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061254"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1632,
          "referenceAllele": "G",
          "start": 1631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_011522942.1:c.1311G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521244.1:p.Trp437Ter",
        "hgvsWellDefined": "XP_011521244.1:p.Trp437_Phe610delinsAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1479,
          "referenceAllele": "G",
          "start": 1478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_011522943.1:c.1311G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521245.1:p.Trp437Ter",
        "hgvsWellDefined": "XP_011521245.1:p.Trp437_Phe610delinsAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1655,
          "referenceAllele": "G",
          "start": 1654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_933238.1:n.1655G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128938"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1752,
          "referenceAllele": "G",
          "start": 1751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_933239.1:n.1752G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128939"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1749,
          "referenceAllele": "G",
          "start": 1748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_933240.1:n.1749G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1506,
          "referenceAllele": "G",
          "start": 1505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_933241.1:n.1506G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128941"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1789,
          "referenceAllele": "G",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_147928.1:n.1789G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530911"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1543,
          "referenceAllele": "G",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_147929.1:n.1543G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1654,
          "referenceAllele": "G",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_005256293.2:c.1311G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256350.1:p.Trp437Ter",
        "hgvsWellDefined": "XP_005256350.1:p.Trp437_Phe610delinsAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1613,
          "referenceAllele": "G",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_017023018.1:c.1311G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878507.1:p.Trp437Ter",
        "hgvsWellDefined": "XP_016878507.1:p.Trp437_Phe610delinsAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1654,
          "referenceAllele": "G",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_017023019.1:c.1311G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878508.1:p.Trp437Ter",
        "hgvsWellDefined": "XP_016878508.1:p.Trp437_Lys555delinsAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAspGlyValSerProCysTrpProSerTrpSerArgThrProAspPheLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573846"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 825,
          "referenceAllele": "G",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_017023020.2:c.-3847G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878509.1:n.-3847G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573847"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1654,
          "referenceAllele": "G",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_017023021.1:c.1311G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878510.1:p.Trp437Ter",
        "hgvsWellDefined": "XP_016878510.1:p.Trp437_Pro463delinsAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyCysProLeuSerProAspProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573848"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1146,
          "referenceAllele": "G",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_017023022.1:c.444G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878511.1:p.Trp148Ter",
        "hgvsWellDefined": "XP_016878511.1:p.Trp148_Phe321delinsAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573849"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 788,
          "referenceAllele": "G",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_024450186.1:c.516G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305954.1:p.Trp172Ter",
        "hgvsWellDefined": "XP_024305954.1:p.Trp172_Phe345delinsAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583727"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 764,
          "referenceAllele": "G",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_024450187.1:c.516G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305955.1:p.Trp172Ter",
        "hgvsWellDefined": "XP_024305955.1:p.Trp172_Ser311delinsAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1505,
          "referenceAllele": "G",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_001751864.2:n.1505G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598660"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1505,
          "referenceAllele": "G",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_001751865.1:n.1505G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598661"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1654,
          "referenceAllele": "G",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_933238.2:n.1654G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610396"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1748,
          "referenceAllele": "G",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_933240.3:n.1748G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610397"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825631602",
      "coordinates": [
        {
          "allele": "A",
          "end": 1476,
          "referenceAllele": "G",
          "start": 1475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001127214.4:c.1311G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120686.1:p.Trp437Ter",
        "hgvsWellDefined": "NP_001120686.1:p.Trp437_Ser576delinsAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676853"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826326324",
      "coordinates": [
        {
          "allele": "A",
          "end": 1649,
          "referenceAllele": "G",
          "start": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001243279.3:c.1311G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230208.1:p.Trp437Ter",
        "hgvsWellDefined": "NP_001230208.1:p.Trp437_Ser576delinsAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680213",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000614302.5:c.1311G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001243279.3:c.1311G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000479130.1:p.Trp437Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001230208.1:p.Trp437Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826689100",
      "coordinates": [
        {
          "allele": "A",
          "end": 786,
          "referenceAllele": "G",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001284316.2:c.516G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271245.1:p.Trp172Ter",
        "hgvsWellDefined": "NP_001271245.1:p.Trp172_Ser311delinsAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139766604",
      "coordinates": [
        {
          "allele": "A",
          "end": 1645,
          "referenceAllele": "G",
          "start": 1644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_174917.5:c.1311G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_777577.2:p.Trp437Ter",
        "hgvsWellDefined": "NP_777577.2:p.Trp437_Ser576delinsAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700677"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1649,
          "referenceAllele": "G",
          "start": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_104293.2:n.1649G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1746,
          "referenceAllele": "G",
          "start": 1745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_147928.2:n.1746G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704609"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1500,
          "referenceAllele": "G",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_147929.2:n.1500G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704610"
    }
  ],
  "type": "nucleotide"
}