{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6911113",
  "communityStandardTitle": [
    "NM_014363.6(SACS):c.6240T>C (p.Val2080=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=271448[alleleid]",
        "alleleId": 271448,
        "preferredName": "NM_014363.6(SACS):c.6240T>C (p.Val2080=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/287211",
        "RCV": [
          "RCV000676363",
          "RCV001086386",
          "RCV001111737",
          "RCV001706417"
        ],
        "variationId": 287211
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-23911775-A-G",
        "id": "13-23911775-A-G",
        "variant": "13:23911775 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23911775A>G?assembly=hg19",
        "id": "chr13:g.23911775A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23337636A>G?assembly=hg38",
        "id": "chr13:g.23337636A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/550680855",
        "rs": 550680855
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23911775-A-G?dataset=gnomad_r2_1",
        "id": "13-23911775-A-G",
        "variant": "13:23911775 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23337636-A-G?dataset=gnomad_r3",
        "id": "13-23337636-A-G",
        "variant": "13:23337636 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23337636-A-G?dataset=gnomad_r4",
        "id": "13-23337636-A-G",
        "variant": "13:23337636 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 23337636,
          "referenceAllele": "A",
          "start": 23337635
        }
      ],
      "hgvs": [
        "NC_000013.11:g.23337636A>G",
        "CM000675.2:g.23337636A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 23911775,
          "referenceAllele": "A",
          "start": 23911774
        }
      ],
      "hgvs": [
        "NC_000013.10:g.23911775A>G",
        "CM000675.1:g.23911775A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 22809775,
          "referenceAllele": "A",
          "start": 22809774
        }
      ],
      "hgvs": [
        "NC_000013.9:g.22809775A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 101067,
          "referenceAllele": "T",
          "start": 101066
        }
      ],
      "hgvs": [
        "NG_012342.1:g.101067T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002379"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2824,
          "endIntronDirection": "+",
          "endIntronOffset": 16149,
          "referenceAllele": "T",
          "start": 2824,
          "startIntronDirection": "+",
          "startIntronOffset": 16148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682775.1:c.2185+16149T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508399.1:n.2185+16149T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827764"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6906,
          "referenceAllele": "T",
          "start": 6905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682944.1:c.6267T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507173.1:p.Val2089="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2824,
          "endIntronDirection": "+",
          "endIntronOffset": 16149,
          "referenceAllele": "T",
          "start": 2824,
          "startIntronDirection": "+",
          "startIntronOffset": 16148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683210.1:c.2185+16149T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506739.1:n.2185+16149T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828192"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6360,
          "referenceAllele": "T",
          "start": 6359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683270.1:c.6231T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507624.1:p.Val2077="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828251"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2414,
          "endIntronDirection": "-",
          "endIntronOffset": 8151,
          "referenceAllele": "T",
          "start": 2414,
          "startIntronDirection": "-",
          "startIntronOffset": 8152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683367.1:c.2177-8152T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507780.1:n.2177-8152T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828347"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2930,
          "endIntronDirection": "+",
          "endIntronOffset": 3949,
          "referenceAllele": "T",
          "start": 2930,
          "startIntronDirection": "+",
          "startIntronOffset": 3948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683489.1:c.2291+3949T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508403.1:n.2291+3949T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828463"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2957,
          "endIntronDirection": "+",
          "endIntronOffset": 3949,
          "referenceAllele": "T",
          "start": 2957,
          "startIntronDirection": "+",
          "startIntronOffset": 3948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683680.1:c.2318+3949T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507223.1:n.2318+3949T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828651"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2355,
          "endIntronDirection": "-",
          "endIntronOffset": 8151,
          "referenceAllele": "T",
          "start": 2355,
          "startIntronDirection": "-",
          "startIntronOffset": 8152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684163.1:c.2204-8152T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508262.1:n.2204-8152T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829121"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4542,
          "endIntronDirection": "-",
          "endIntronOffset": 8151,
          "referenceAllele": "T",
          "start": 4542,
          "startIntronDirection": "-",
          "startIntronOffset": 8152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684196.1:n.4543-8152T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2824,
          "endIntronDirection": "-",
          "endIntronOffset": 15961,
          "referenceAllele": "T",
          "start": 2824,
          "startIntronDirection": "-",
          "startIntronOffset": 15962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684325.1:c.2186-15962T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508121.1:n.2186-15962T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829280"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2859,
          "endIntronDirection": "-",
          "endIntronOffset": 8151,
          "referenceAllele": "T",
          "start": 2859,
          "startIntronDirection": "-",
          "startIntronOffset": 8152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684385.1:c.2221-8152T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507855.1:n.2221-8152T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2824,
          "endIntronDirection": "-",
          "endIntronOffset": 14991,
          "referenceAllele": "T",
          "start": 2824,
          "startIntronDirection": "-",
          "startIntronOffset": 14992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684497.1:c.2186-14992T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507057.1:n.2186-14992T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829451"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6829,
          "referenceAllele": "T",
          "start": 6828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.9:c.6240T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.Val2080="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752641",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.6240T>C"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.6240T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Val2080="
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Val2080="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2812,
          "endIntronDirection": "-",
          "endIntronOffset": 8151,
          "referenceAllele": "T",
          "start": 2812,
          "startIntronDirection": "-",
          "startIntronOffset": 8152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000423156.2:c.2186-8152T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390925.2:n.2186-8152T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754964"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3019,
          "endIntronDirection": "+",
          "endIntronOffset": 3809,
          "referenceAllele": "T",
          "start": 3019,
          "startIntronDirection": "+",
          "startIntronOffset": 3808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.6:c.2431+3809T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406565.2:n.2431+3809T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756513"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6514,
          "referenceAllele": "T",
          "start": 6513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.7:c.6240T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.Val2080="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273693"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6855,
          "referenceAllele": "T",
          "start": 6854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382298.7:c.6240T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371735.3:p.Val2080="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273698"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6324,
          "referenceAllele": "T",
          "start": 6323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000402364.1:c.3990T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385844.1:p.Val1330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279490"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1057,
          "endIntronDirection": "-",
          "endIntronOffset": 8151,
          "referenceAllele": "T",
          "start": 1057,
          "startIntronDirection": "-",
          "startIntronOffset": 8152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000423156.1:c.1058-8152T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390925.1:n.1058-8152T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287621"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2129,
          "endIntronDirection": "+",
          "endIntronOffset": 3809,
          "referenceAllele": "T",
          "start": 2129,
          "startIntronDirection": "+",
          "startIntronOffset": 3808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.5:c.2129+3809T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS303060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826577246",
      "coordinates": [
        {
          "allele": "C",
          "end": 6324,
          "referenceAllele": "T",
          "start": 6323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.1:c.5799T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.Val1933="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829764255",
      "coordinates": [
        {
          "allele": "C",
          "end": 6855,
          "referenceAllele": "T",
          "start": 6854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.5:c.6240T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Val2080="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6882,
          "referenceAllele": "T",
          "start": 6881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.1:c.6267T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.Val2089="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6309,
          "referenceAllele": "T",
          "start": 6308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535038.1:c.6291T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533340.1:p.Val2097="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102048"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6379,
          "referenceAllele": "T",
          "start": 6378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.1:c.6258T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.Val2086="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102049"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6882,
          "referenceAllele": "T",
          "start": 6881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.2:c.6267T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.Val2089="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536218"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6490,
          "referenceAllele": "T",
          "start": 6489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.2:c.6258T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.Val2086="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551886"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6463,
          "referenceAllele": "T",
          "start": 6462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_017020539.1:c.6231T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876028.1:p.Val2077="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6906,
          "referenceAllele": "T",
          "start": 6905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_024449337.1:c.6267T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305105.1:p.Val2089="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829764255",
      "coordinates": [
        {
          "allele": "C",
          "end": 6829,
          "referenceAllele": "T",
          "start": 6828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.6:c.6240T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Val2080="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668309",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.6240T>C"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.6240T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Val2080="
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Val2080="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826577246",
      "coordinates": [
        {
          "allele": "C",
          "end": 6289,
          "referenceAllele": "T",
          "start": 6288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.2:c.5799T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.Val1933="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681389"
    }
  ],
  "type": "nucleotide"
}