{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA387516772",
  "communityStandardTitle": [
    "NM_014363.6(SACS):c.8377C>T (p.Gln2793Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=547429[alleleid]",
        "alleleId": 547429,
        "preferredName": "NM_014363.6(SACS):c.8377C>T (p.Gln2793Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/558263",
        "RCV": [
          "RCV000674504",
          "RCV002532164"
        ],
        "variationId": 558263
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23909638G>A?assembly=hg19",
        "id": "chr13:g.23909638G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23335499G>A?assembly=hg38",
        "id": "chr13:g.23335499G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1240368715",
        "rs": 1240368715
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23909638-G-A?dataset=gnomad_r2_1",
        "id": "13-23909638-G-A",
        "variant": "13:23909638 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23335499-G-A?dataset=gnomad_r4",
        "id": "13-23335499-G-A",
        "variant": "13:23335499 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 23335499,
          "referenceAllele": "G",
          "start": 23335498
        }
      ],
      "hgvs": [
        "NC_000013.11:g.23335499G>A",
        "CM000675.2:g.23335499G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 23909638,
          "referenceAllele": "G",
          "start": 23909637
        }
      ],
      "hgvs": [
        "NC_000013.10:g.23909638G>A",
        "CM000675.1:g.23909638G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 22807638,
          "referenceAllele": "G",
          "start": 22807637
        }
      ],
      "hgvs": [
        "NC_000013.9:g.22807638G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 103204,
          "referenceAllele": "C",
          "start": 103203
        }
      ],
      "hgvs": [
        "NG_012342.1:g.103204C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002379"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2824,
          "endIntronDirection": "+",
          "endIntronOffset": 18286,
          "referenceAllele": "C",
          "start": 2824,
          "startIntronDirection": "+",
          "startIntronOffset": 18285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682775.1:c.2185+18286C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508399.1:n.2185+18286C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9043,
          "referenceAllele": "C",
          "start": 9042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682944.1:c.8404C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507173.1:p.Gln2802Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2824,
          "endIntronDirection": "+",
          "endIntronOffset": 18286,
          "referenceAllele": "C",
          "start": 2824,
          "startIntronDirection": "+",
          "startIntronOffset": 18285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683210.1:c.2185+18286C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506739.1:n.2185+18286C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6574,
          "endIntronDirection": "+",
          "endIntronOffset": 1923,
          "referenceAllele": "C",
          "start": 6574,
          "startIntronDirection": "+",
          "startIntronOffset": 1922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683270.1:c.6445+1923C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507624.1:n.6445+1923C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2414,
          "endIntronDirection": "-",
          "endIntronOffset": 6014,
          "referenceAllele": "C",
          "start": 2414,
          "startIntronDirection": "-",
          "startIntronOffset": 6015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683367.1:c.2177-6015C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507780.1:n.2177-6015C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2930,
          "endIntronDirection": "-",
          "endIntronOffset": 5546,
          "referenceAllele": "C",
          "start": 2930,
          "startIntronDirection": "-",
          "startIntronOffset": 5547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683489.1:c.2292-5547C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508403.1:n.2292-5547C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828463"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2957,
          "endIntronDirection": "-",
          "endIntronOffset": 5546,
          "referenceAllele": "C",
          "start": 2957,
          "startIntronDirection": "-",
          "startIntronOffset": 5547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683680.1:c.2319-5547C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507223.1:n.2319-5547C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2355,
          "endIntronDirection": "-",
          "endIntronOffset": 6014,
          "referenceAllele": "C",
          "start": 2355,
          "startIntronDirection": "-",
          "startIntronOffset": 6015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684163.1:c.2204-6015C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508262.1:n.2204-6015C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "endIntronDirection": "-",
          "endIntronOffset": 6014,
          "referenceAllele": "C",
          "start": 4542,
          "startIntronDirection": "-",
          "startIntronOffset": 6015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684196.1:n.4543-6015C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2824,
          "endIntronDirection": "-",
          "endIntronOffset": 13824,
          "referenceAllele": "C",
          "start": 2824,
          "startIntronDirection": "-",
          "startIntronOffset": 13825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684325.1:c.2186-13825C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508121.1:n.2186-13825C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829280"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2859,
          "endIntronDirection": "-",
          "endIntronOffset": 6014,
          "referenceAllele": "C",
          "start": 2859,
          "startIntronDirection": "-",
          "startIntronOffset": 6015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684385.1:c.2221-6015C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507855.1:n.2221-6015C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2824,
          "endIntronDirection": "-",
          "endIntronOffset": 12854,
          "referenceAllele": "C",
          "start": 2824,
          "startIntronDirection": "-",
          "startIntronOffset": 12855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684497.1:c.2186-12855C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507057.1:n.2186-12855C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829451"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8966,
          "referenceAllele": "C",
          "start": 8965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.9:c.8377C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.Gln2793Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752641",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.8377C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.8377C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Gln2793Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Gln2793Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2812,
          "endIntronDirection": "-",
          "endIntronOffset": 6014,
          "referenceAllele": "C",
          "start": 2812,
          "startIntronDirection": "-",
          "startIntronOffset": 6015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000423156.2:c.2186-6015C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390925.2:n.2186-6015C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3019,
          "endIntronDirection": "+",
          "endIntronOffset": 5946,
          "referenceAllele": "C",
          "start": 3019,
          "startIntronDirection": "+",
          "startIntronOffset": 5945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.6:c.2431+5946C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406565.2:n.2431+5946C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756513"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8651,
          "referenceAllele": "C",
          "start": 8650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.7:c.8377C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.Gln2793Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8992,
          "referenceAllele": "C",
          "start": 8991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382298.7:c.8377C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371735.3:p.Gln2793Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273698"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8461,
          "referenceAllele": "C",
          "start": 8460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000402364.1:c.6127C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385844.1:p.Gln2043Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279490"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1057,
          "endIntronDirection": "-",
          "endIntronOffset": 6014,
          "referenceAllele": "C",
          "start": 1057,
          "startIntronDirection": "-",
          "startIntronOffset": 6015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000423156.1:c.1058-6015C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390925.1:n.1058-6015C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287621"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2129,
          "endIntronDirection": "+",
          "endIntronOffset": 5946,
          "referenceAllele": "C",
          "start": 2129,
          "startIntronDirection": "+",
          "startIntronOffset": 5945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.5:c.2129+5946C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS303060"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8461,
          "referenceAllele": "C",
          "start": 8460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.1:c.7936C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.Gln2646Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021054"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8992,
          "referenceAllele": "C",
          "start": 8991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.5:c.8377C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Gln2793Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9019,
          "referenceAllele": "C",
          "start": 9018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.1:c.8404C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.Gln2802Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8446,
          "referenceAllele": "C",
          "start": 8445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535038.1:c.8428C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533340.1:p.Gln2810Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102048"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8516,
          "referenceAllele": "C",
          "start": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.1:c.8395C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.Gln2799Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9019,
          "referenceAllele": "C",
          "start": 9018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.2:c.8404C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.Gln2802Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536218"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8627,
          "referenceAllele": "C",
          "start": 8626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.2:c.8395C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.Gln2799Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8600,
          "referenceAllele": "C",
          "start": 8599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_017020539.1:c.8368C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876028.1:p.Gln2790Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9043,
          "referenceAllele": "C",
          "start": 9042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_024449337.1:c.8404C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305105.1:p.Gln2802Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8966,
          "referenceAllele": "C",
          "start": 8965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.6:c.8377C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Gln2793Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668309",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.8377C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.8377C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Gln2793Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Gln2793Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8426,
          "referenceAllele": "C",
          "start": 8425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.2:c.7936C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.Gln2646Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681389"
    }
  ],
  "type": "nucleotide"
}