{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6910688",
  "communityStandardTitle": [
    "NM_014363.6(SACS):c.8958C>T (p.His2986=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=713872[alleleid]",
        "alleleId": 713872,
        "preferredName": "NM_014363.6(SACS):c.8958C>T (p.His2986=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/790976",
        "RCV": [
          "RCV000973863",
          "RCV001114945",
          "RCV003883518"
        ],
        "variationId": 790976
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-23909057-G-A",
        "id": "13-23909057-G-A",
        "variant": "13:23909057 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23909057G>A?assembly=hg19",
        "id": "chr13:g.23909057G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23334918G>A?assembly=hg38",
        "id": "chr13:g.23334918G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/758029668",
        "rs": 758029668
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23909057-G-A?dataset=gnomad_r2_1",
        "id": "13-23909057-G-A",
        "variant": "13:23909057 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23334918-G-A?dataset=gnomad_r3",
        "id": "13-23334918-G-A",
        "variant": "13:23334918 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23334918-G-A?dataset=gnomad_r4",
        "id": "13-23334918-G-A",
        "variant": "13:23334918 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 23334918,
          "referenceAllele": "G",
          "start": 23334917
        }
      ],
      "hgvs": [
        "NC_000013.11:g.23334918G>A",
        "CM000675.2:g.23334918G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 23909057,
          "referenceAllele": "G",
          "start": 23909056
        }
      ],
      "hgvs": [
        "NC_000013.10:g.23909057G>A",
        "CM000675.1:g.23909057G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 22807057,
          "referenceAllele": "G",
          "start": 22807056
        }
      ],
      "hgvs": [
        "NC_000013.9:g.22807057G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 103785,
          "referenceAllele": "C",
          "start": 103784
        }
      ],
      "hgvs": [
        "NG_012342.1:g.103785C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002379"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2824,
          "endIntronDirection": "+",
          "endIntronOffset": 18867,
          "referenceAllele": "C",
          "start": 2824,
          "startIntronDirection": "+",
          "startIntronOffset": 18866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682775.1:c.2185+18867C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508399.1:n.2185+18867C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9624,
          "referenceAllele": "C",
          "start": 9623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682944.1:c.8985C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507173.1:p.His2995="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2824,
          "endIntronDirection": "+",
          "endIntronOffset": 18867,
          "referenceAllele": "C",
          "start": 2824,
          "startIntronDirection": "+",
          "startIntronOffset": 18866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683210.1:c.2185+18867C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506739.1:n.2185+18867C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6574,
          "endIntronDirection": "+",
          "endIntronOffset": 2504,
          "referenceAllele": "C",
          "start": 6574,
          "startIntronDirection": "+",
          "startIntronOffset": 2503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683270.1:c.6445+2504C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507624.1:n.6445+2504C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2414,
          "endIntronDirection": "-",
          "endIntronOffset": 5433,
          "referenceAllele": "C",
          "start": 2414,
          "startIntronDirection": "-",
          "startIntronOffset": 5434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683367.1:c.2177-5434C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507780.1:n.2177-5434C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2930,
          "endIntronDirection": "-",
          "endIntronOffset": 4965,
          "referenceAllele": "C",
          "start": 2930,
          "startIntronDirection": "-",
          "startIntronOffset": 4966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683489.1:c.2292-4966C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508403.1:n.2292-4966C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828463"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2957,
          "endIntronDirection": "-",
          "endIntronOffset": 4965,
          "referenceAllele": "C",
          "start": 2957,
          "startIntronDirection": "-",
          "startIntronOffset": 4966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683680.1:c.2319-4966C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507223.1:n.2319-4966C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2355,
          "endIntronDirection": "-",
          "endIntronOffset": 5433,
          "referenceAllele": "C",
          "start": 2355,
          "startIntronDirection": "-",
          "startIntronOffset": 5434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684163.1:c.2204-5434C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508262.1:n.2204-5434C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "endIntronDirection": "-",
          "endIntronOffset": 5433,
          "referenceAllele": "C",
          "start": 4542,
          "startIntronDirection": "-",
          "startIntronOffset": 5434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684196.1:n.4543-5434C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2824,
          "endIntronDirection": "-",
          "endIntronOffset": 13243,
          "referenceAllele": "C",
          "start": 2824,
          "startIntronDirection": "-",
          "startIntronOffset": 13244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684325.1:c.2186-13244C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508121.1:n.2186-13244C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829280"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2859,
          "endIntronDirection": "-",
          "endIntronOffset": 5433,
          "referenceAllele": "C",
          "start": 2859,
          "startIntronDirection": "-",
          "startIntronOffset": 5434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684385.1:c.2221-5434C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507855.1:n.2221-5434C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2824,
          "endIntronDirection": "-",
          "endIntronOffset": 12273,
          "referenceAllele": "C",
          "start": 2824,
          "startIntronDirection": "-",
          "startIntronOffset": 12274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684497.1:c.2186-12274C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507057.1:n.2186-12274C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829451"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9547,
          "referenceAllele": "C",
          "start": 9546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.9:c.8958C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.His2986="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752641",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.8958C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.8958C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.His2986="
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.His2986="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2812,
          "endIntronDirection": "-",
          "endIntronOffset": 5433,
          "referenceAllele": "C",
          "start": 2812,
          "startIntronDirection": "-",
          "startIntronOffset": 5434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000423156.2:c.2186-5434C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390925.2:n.2186-5434C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3019,
          "endIntronDirection": "-",
          "endIntronOffset": 5433,
          "referenceAllele": "C",
          "start": 3019,
          "startIntronDirection": "-",
          "startIntronOffset": 5434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.6:c.2432-5434C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406565.2:n.2432-5434C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756513"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9232,
          "referenceAllele": "C",
          "start": 9231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.7:c.8958C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.His2986="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9573,
          "referenceAllele": "C",
          "start": 9572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382298.7:c.8958C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371735.3:p.His2986="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273698"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9042,
          "referenceAllele": "C",
          "start": 9041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000402364.1:c.6708C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385844.1:p.His2236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279490"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1057,
          "endIntronDirection": "-",
          "endIntronOffset": 5433,
          "referenceAllele": "C",
          "start": 1057,
          "startIntronDirection": "-",
          "startIntronOffset": 5434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000423156.1:c.1058-5434C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390925.1:n.1058-5434C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287621"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2129,
          "endIntronDirection": "-",
          "endIntronOffset": 5433,
          "referenceAllele": "C",
          "start": 2129,
          "startIntronDirection": "-",
          "startIntronOffset": 5434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.5:c.2130-5434C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS303060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826577870",
      "coordinates": [
        {
          "allele": "T",
          "end": 9042,
          "referenceAllele": "C",
          "start": 9041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.1:c.8517C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.His2839="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829764539",
      "coordinates": [
        {
          "allele": "T",
          "end": 9573,
          "referenceAllele": "C",
          "start": 9572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.5:c.8958C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.His2986="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9600,
          "referenceAllele": "C",
          "start": 9599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.1:c.8985C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.His2995="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9027,
          "referenceAllele": "C",
          "start": 9026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535038.1:c.9009C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533340.1:p.His3003="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102048"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9097,
          "referenceAllele": "C",
          "start": 9096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.1:c.8976C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.His2992="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9600,
          "referenceAllele": "C",
          "start": 9599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.2:c.8985C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.His2995="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536218"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9208,
          "referenceAllele": "C",
          "start": 9207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.2:c.8976C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.His2992="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9181,
          "referenceAllele": "C",
          "start": 9180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_017020539.1:c.8949C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876028.1:p.His2983="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9624,
          "referenceAllele": "C",
          "start": 9623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_024449337.1:c.8985C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305105.1:p.His2995="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829764539",
      "coordinates": [
        {
          "allele": "T",
          "end": 9547,
          "referenceAllele": "C",
          "start": 9546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.6:c.8958C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.His2986="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668309",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.8958C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.8958C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.His2986="
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.His2986="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826577870",
      "coordinates": [
        {
          "allele": "T",
          "end": 9007,
          "referenceAllele": "C",
          "start": 9006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.2:c.8517C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.His2839="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681389"
    }
  ],
  "type": "nucleotide"
}