{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6910346",
  "communityStandardTitle": [
    "NM_014363.6(SACS):c.11049T>C (p.Asn3683=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=713871[alleleid]",
        "alleleId": 713871,
        "preferredName": "NM_014363.6(SACS):c.11049T>C (p.Asn3683=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/790533",
        "RCV": [
          "RCV000973335",
          "RCV001664583",
          "RCV001832214",
          "RCV001847118",
          "RCV003953325"
        ],
        "variationId": 790533
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-23906966-A-G",
        "id": "13-23906966-A-G",
        "variant": "13:23906966 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23906966A>G?assembly=hg19",
        "id": "chr13:g.23906966A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23332827A>G?assembly=hg38",
        "id": "chr13:g.23332827A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/773770705",
        "rs": 773770705
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23906966-A-G?dataset=gnomad_r2_1",
        "id": "13-23906966-A-G",
        "variant": "13:23906966 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23332827-A-G?dataset=gnomad_r3",
        "id": "13-23332827-A-G",
        "variant": "13:23332827 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23332827-A-G?dataset=gnomad_r4",
        "id": "13-23332827-A-G",
        "variant": "13:23332827 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 23332827,
          "referenceAllele": "A",
          "start": 23332826
        }
      ],
      "hgvs": [
        "NC_000013.11:g.23332827A>G",
        "CM000675.2:g.23332827A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 23906966,
          "referenceAllele": "A",
          "start": 23906965
        }
      ],
      "hgvs": [
        "NC_000013.10:g.23906966A>G",
        "CM000675.1:g.23906966A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 22804966,
          "referenceAllele": "A",
          "start": 22804965
        }
      ],
      "hgvs": [
        "NC_000013.9:g.22804966A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 105876,
          "referenceAllele": "T",
          "start": 105875
        }
      ],
      "hgvs": [
        "NG_012342.1:g.105876T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002379"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2824,
          "endIntronDirection": "-",
          "endIntronOffset": 20711,
          "referenceAllele": "T",
          "start": 2824,
          "startIntronDirection": "-",
          "startIntronOffset": 20712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682775.1:c.2186-20712T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508399.1:n.2186-20712T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827764"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11715,
          "referenceAllele": "T",
          "start": 11714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682944.1:c.11076T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507173.1:p.Asn3692="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2824,
          "endIntronDirection": "+",
          "endIntronOffset": 20958,
          "referenceAllele": "T",
          "start": 2824,
          "startIntronDirection": "+",
          "startIntronOffset": 20957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683210.1:c.2185+20958T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506739.1:n.2185+20958T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828192"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6574,
          "endIntronDirection": "-",
          "endIntronOffset": 3342,
          "referenceAllele": "T",
          "start": 6574,
          "startIntronDirection": "-",
          "startIntronOffset": 3343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683270.1:c.6446-3343T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507624.1:n.6446-3343T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828251"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2414,
          "endIntronDirection": "-",
          "endIntronOffset": 3342,
          "referenceAllele": "T",
          "start": 2414,
          "startIntronDirection": "-",
          "startIntronOffset": 3343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683367.1:c.2177-3343T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507780.1:n.2177-3343T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828347"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2930,
          "endIntronDirection": "-",
          "endIntronOffset": 2874,
          "referenceAllele": "T",
          "start": 2930,
          "startIntronDirection": "-",
          "startIntronOffset": 2875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683489.1:c.2292-2875T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508403.1:n.2292-2875T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828463"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2957,
          "endIntronDirection": "-",
          "endIntronOffset": 2874,
          "referenceAllele": "T",
          "start": 2957,
          "startIntronDirection": "-",
          "startIntronOffset": 2875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683680.1:c.2319-2875T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507223.1:n.2319-2875T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828651"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2355,
          "endIntronDirection": "-",
          "endIntronOffset": 3342,
          "referenceAllele": "T",
          "start": 2355,
          "startIntronDirection": "-",
          "startIntronOffset": 3343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684163.1:c.2204-3343T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508262.1:n.2204-3343T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829121"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4542,
          "endIntronDirection": "-",
          "endIntronOffset": 3342,
          "referenceAllele": "T",
          "start": 4542,
          "startIntronDirection": "-",
          "startIntronOffset": 3343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684196.1:n.4543-3343T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2824,
          "endIntronDirection": "-",
          "endIntronOffset": 11152,
          "referenceAllele": "T",
          "start": 2824,
          "startIntronDirection": "-",
          "startIntronOffset": 11153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684325.1:c.2186-11153T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508121.1:n.2186-11153T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829280"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2859,
          "endIntronDirection": "-",
          "endIntronOffset": 3342,
          "referenceAllele": "T",
          "start": 2859,
          "startIntronDirection": "-",
          "startIntronOffset": 3343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684385.1:c.2221-3343T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507855.1:n.2221-3343T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2824,
          "endIntronDirection": "-",
          "endIntronOffset": 10182,
          "referenceAllele": "T",
          "start": 2824,
          "startIntronDirection": "-",
          "startIntronOffset": 10183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684497.1:c.2186-10183T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507057.1:n.2186-10183T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829451"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11638,
          "referenceAllele": "T",
          "start": 11637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.9:c.11049T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.Asn3683="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752641",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.11049T>C"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.11049T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Asn3683="
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Asn3683="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2812,
          "endIntronDirection": "-",
          "endIntronOffset": 3342,
          "referenceAllele": "T",
          "start": 2812,
          "startIntronDirection": "-",
          "startIntronOffset": 3343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000423156.2:c.2186-3343T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390925.2:n.2186-3343T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754964"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3019,
          "endIntronDirection": "-",
          "endIntronOffset": 3342,
          "referenceAllele": "T",
          "start": 3019,
          "startIntronDirection": "-",
          "startIntronOffset": 3343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.6:c.2432-3343T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406565.2:n.2432-3343T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756513"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11323,
          "referenceAllele": "T",
          "start": 11322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.7:c.11049T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.Asn3683="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273693"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11664,
          "referenceAllele": "T",
          "start": 11663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382298.7:c.11049T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371735.3:p.Asn3683="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273698"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11133,
          "referenceAllele": "T",
          "start": 11132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000402364.1:c.8799T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385844.1:p.Asn2933="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279490"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1057,
          "endIntronDirection": "-",
          "endIntronOffset": 3342,
          "referenceAllele": "T",
          "start": 1057,
          "startIntronDirection": "-",
          "startIntronOffset": 3343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000423156.1:c.1058-3343T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390925.1:n.1058-3343T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287621"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2129,
          "endIntronDirection": "-",
          "endIntronOffset": 3342,
          "referenceAllele": "T",
          "start": 2129,
          "startIntronDirection": "-",
          "startIntronOffset": 3343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.5:c.2130-3343T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS303060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826578381",
      "coordinates": [
        {
          "allele": "C",
          "end": 11133,
          "referenceAllele": "T",
          "start": 11132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.1:c.10608T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.Asn3536="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829764782",
      "coordinates": [
        {
          "allele": "C",
          "end": 11664,
          "referenceAllele": "T",
          "start": 11663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.5:c.11049T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Asn3683="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11691,
          "referenceAllele": "T",
          "start": 11690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.1:c.11076T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.Asn3692="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11118,
          "referenceAllele": "T",
          "start": 11117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535038.1:c.11100T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533340.1:p.Asn3700="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102048"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11188,
          "referenceAllele": "T",
          "start": 11187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.1:c.11067T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.Asn3689="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102049"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11691,
          "referenceAllele": "T",
          "start": 11690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.2:c.11076T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.Asn3692="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536218"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11299,
          "referenceAllele": "T",
          "start": 11298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.2:c.11067T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.Asn3689="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551886"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11272,
          "referenceAllele": "T",
          "start": 11271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_017020539.1:c.11040T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876028.1:p.Asn3680="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11715,
          "referenceAllele": "T",
          "start": 11714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_024449337.1:c.11076T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305105.1:p.Asn3692="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829764782",
      "coordinates": [
        {
          "allele": "C",
          "end": 11638,
          "referenceAllele": "T",
          "start": 11637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.6:c.11049T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Asn3683="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668309",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.11049T>C"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.11049T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Asn3683="
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Asn3683="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826578381",
      "coordinates": [
        {
          "allele": "C",
          "end": 11098,
          "referenceAllele": "T",
          "start": 11097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.2:c.10608T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.Asn3536="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681389"
    }
  ],
  "type": "nucleotide"
}