{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA387513554",
  "communityStandardTitle": [
    "NM_014363.6(SACS):c.9833G>A (p.Trp3278Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2833523[alleleid]",
        "alleleId": 2833523,
        "preferredName": "NM_014363.6(SACS):c.9833G>A (p.Trp3278Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2678500",
        "RCV": [
          "RCV003466310"
        ],
        "variationId": 2678500
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23908182C>T?assembly=hg19",
        "id": "chr13:g.23908182C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23334043C>T?assembly=hg38",
        "id": "chr13:g.23334043C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2542194050",
        "rs": 2542194050
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23334043-C-T?dataset=gnomad_r4",
        "id": "13-23334043-C-T",
        "variant": "13:23334043 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 23334043,
          "referenceAllele": "C",
          "start": 23334042
        }
      ],
      "hgvs": [
        "NC_000013.11:g.23334043C>T",
        "CM000675.2:g.23334043C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 23908182,
          "referenceAllele": "C",
          "start": 23908181
        }
      ],
      "hgvs": [
        "NC_000013.10:g.23908182C>T",
        "CM000675.1:g.23908182C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 22806182,
          "referenceAllele": "C",
          "start": 22806181
        }
      ],
      "hgvs": [
        "NC_000013.9:g.22806182C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 104660,
          "referenceAllele": "G",
          "start": 104659
        }
      ],
      "hgvs": [
        "NG_012342.1:g.104660G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002379"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2824,
          "endIntronDirection": "+",
          "endIntronOffset": 19742,
          "referenceAllele": "G",
          "start": 2824,
          "startIntronDirection": "+",
          "startIntronOffset": 19741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682775.1:c.2185+19742G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508399.1:n.2185+19742G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827764"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10499,
          "referenceAllele": "G",
          "start": 10498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682944.1:c.9860G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507173.1:p.Trp3287Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827932"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2824,
          "endIntronDirection": "+",
          "endIntronOffset": 19742,
          "referenceAllele": "G",
          "start": 2824,
          "startIntronDirection": "+",
          "startIntronOffset": 19741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683210.1:c.2185+19742G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506739.1:n.2185+19742G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6574,
          "endIntronDirection": "+",
          "endIntronOffset": 3379,
          "referenceAllele": "G",
          "start": 6574,
          "startIntronDirection": "+",
          "startIntronOffset": 3378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683270.1:c.6445+3379G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507624.1:n.6445+3379G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2414,
          "endIntronDirection": "-",
          "endIntronOffset": 4558,
          "referenceAllele": "G",
          "start": 2414,
          "startIntronDirection": "-",
          "startIntronOffset": 4559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683367.1:c.2177-4559G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507780.1:n.2177-4559G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2930,
          "endIntronDirection": "-",
          "endIntronOffset": 4090,
          "referenceAllele": "G",
          "start": 2930,
          "startIntronDirection": "-",
          "startIntronOffset": 4091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683489.1:c.2292-4091G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508403.1:n.2292-4091G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828463"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2957,
          "endIntronDirection": "-",
          "endIntronOffset": 4090,
          "referenceAllele": "G",
          "start": 2957,
          "startIntronDirection": "-",
          "startIntronOffset": 4091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683680.1:c.2319-4091G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507223.1:n.2319-4091G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828651"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2355,
          "endIntronDirection": "-",
          "endIntronOffset": 4558,
          "referenceAllele": "G",
          "start": 2355,
          "startIntronDirection": "-",
          "startIntronOffset": 4559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684163.1:c.2204-4559G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508262.1:n.2204-4559G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4542,
          "endIntronDirection": "-",
          "endIntronOffset": 4558,
          "referenceAllele": "G",
          "start": 4542,
          "startIntronDirection": "-",
          "startIntronOffset": 4559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684196.1:n.4543-4559G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829154"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2824,
          "endIntronDirection": "-",
          "endIntronOffset": 12368,
          "referenceAllele": "G",
          "start": 2824,
          "startIntronDirection": "-",
          "startIntronOffset": 12369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684325.1:c.2186-12369G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508121.1:n.2186-12369G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829280"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2859,
          "endIntronDirection": "-",
          "endIntronOffset": 4558,
          "referenceAllele": "G",
          "start": 2859,
          "startIntronDirection": "-",
          "startIntronOffset": 4559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684385.1:c.2221-4559G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507855.1:n.2221-4559G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829340"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2824,
          "endIntronDirection": "-",
          "endIntronOffset": 11398,
          "referenceAllele": "G",
          "start": 2824,
          "startIntronDirection": "-",
          "startIntronOffset": 11399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684497.1:c.2186-11399G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507057.1:n.2186-11399G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829451"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10422,
          "referenceAllele": "G",
          "start": 10421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.9:c.9833G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.Trp3278Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752641",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.9833G>A"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.9833G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Trp3278Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Trp3278Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2812,
          "endIntronDirection": "-",
          "endIntronOffset": 4558,
          "referenceAllele": "G",
          "start": 2812,
          "startIntronDirection": "-",
          "startIntronOffset": 4559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000423156.2:c.2186-4559G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390925.2:n.2186-4559G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3019,
          "endIntronDirection": "-",
          "endIntronOffset": 4558,
          "referenceAllele": "G",
          "start": 3019,
          "startIntronDirection": "-",
          "startIntronOffset": 4559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.6:c.2432-4559G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406565.2:n.2432-4559G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756513"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10107,
          "referenceAllele": "G",
          "start": 10106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.7:c.9833G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.Trp3278Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10448,
          "referenceAllele": "G",
          "start": 10447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382298.7:c.9833G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371735.3:p.Trp3278Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273698"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9917,
          "referenceAllele": "G",
          "start": 9916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000402364.1:c.7583G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385844.1:p.Trp2528Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279490"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1057,
          "endIntronDirection": "-",
          "endIntronOffset": 4558,
          "referenceAllele": "G",
          "start": 1057,
          "startIntronDirection": "-",
          "startIntronOffset": 4559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000423156.1:c.1058-4559G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390925.1:n.1058-4559G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287621"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2129,
          "endIntronDirection": "-",
          "endIntronOffset": 4558,
          "referenceAllele": "G",
          "start": 2129,
          "startIntronDirection": "-",
          "startIntronOffset": 4559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.5:c.2130-4559G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS303060"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9917,
          "referenceAllele": "G",
          "start": 9916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.1:c.9392G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.Trp3131Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021054"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10448,
          "referenceAllele": "G",
          "start": 10447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.5:c.9833G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Trp3278Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033115"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10475,
          "referenceAllele": "G",
          "start": 10474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.1:c.9860G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.Trp3287Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9902,
          "referenceAllele": "G",
          "start": 9901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535038.1:c.9884G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533340.1:p.Trp3295Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102048"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9972,
          "referenceAllele": "G",
          "start": 9971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.1:c.9851G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.Trp3284Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102049"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10475,
          "referenceAllele": "G",
          "start": 10474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.2:c.9860G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.Trp3287Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10083,
          "referenceAllele": "G",
          "start": 10082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.2:c.9851G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.Trp3284Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10056,
          "referenceAllele": "G",
          "start": 10055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_017020539.1:c.9824G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876028.1:p.Trp3275Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10499,
          "referenceAllele": "G",
          "start": 10498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_024449337.1:c.9860G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305105.1:p.Trp3287Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582894"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10422,
          "referenceAllele": "G",
          "start": 10421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.6:c.9833G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Trp3278Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668309",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.9833G>A"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.9833G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Trp3278Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Trp3278Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9882,
          "referenceAllele": "G",
          "start": 9881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.2:c.9392G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.Trp3131Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681389"
    }
  ],
  "type": "nucleotide"
}