{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10644019",
  "communityStandardTitle": [
    "NM_014363.6(SACS):c.10716C>G (p.Pro3572=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=335669[alleleid]",
        "alleleId": 335669,
        "preferredName": "NM_014363.6(SACS):c.10716C>G (p.Pro3572=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/311509",
        "RCV": [
          "RCV000300713",
          "RCV001493823"
        ],
        "variationId": 311509
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23907299G>C?assembly=hg19",
        "id": "chr13:g.23907299G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23333160G>C?assembly=hg38",
        "id": "chr13:g.23333160G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886050077",
        "rs": 886050077
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23907299-G-C?dataset=gnomad_r2_1",
        "id": "13-23907299-G-C",
        "variant": "13:23907299 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23333160-G-C?dataset=gnomad_r4",
        "id": "13-23333160-G-C",
        "variant": "13:23333160 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 23333160,
          "referenceAllele": "G",
          "start": 23333159
        }
      ],
      "hgvs": [
        "NC_000013.11:g.23333160G>C",
        "CM000675.2:g.23333160G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 23907299,
          "referenceAllele": "G",
          "start": 23907298
        }
      ],
      "hgvs": [
        "NC_000013.10:g.23907299G>C",
        "CM000675.1:g.23907299G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 22805299,
          "referenceAllele": "G",
          "start": 22805298
        }
      ],
      "hgvs": [
        "NC_000013.9:g.22805299G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 105543,
          "referenceAllele": "C",
          "start": 105542
        }
      ],
      "hgvs": [
        "NG_012342.1:g.105543C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002379"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2824,
          "endIntronDirection": "+",
          "endIntronOffset": 20625,
          "referenceAllele": "C",
          "start": 2824,
          "startIntronDirection": "+",
          "startIntronOffset": 20624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682775.1:c.2185+20625C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508399.1:n.2185+20625C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827764"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11382,
          "referenceAllele": "C",
          "start": 11381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682944.1:c.10743C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507173.1:p.Pro3581="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827932"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2824,
          "endIntronDirection": "+",
          "endIntronOffset": 20625,
          "referenceAllele": "C",
          "start": 2824,
          "startIntronDirection": "+",
          "startIntronOffset": 20624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683210.1:c.2185+20625C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506739.1:n.2185+20625C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828192"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6574,
          "endIntronDirection": "-",
          "endIntronOffset": 3675,
          "referenceAllele": "C",
          "start": 6574,
          "startIntronDirection": "-",
          "startIntronOffset": 3676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683270.1:c.6446-3676C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507624.1:n.6446-3676C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828251"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2414,
          "endIntronDirection": "-",
          "endIntronOffset": 3675,
          "referenceAllele": "C",
          "start": 2414,
          "startIntronDirection": "-",
          "startIntronOffset": 3676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683367.1:c.2177-3676C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507780.1:n.2177-3676C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828347"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2930,
          "endIntronDirection": "-",
          "endIntronOffset": 3207,
          "referenceAllele": "C",
          "start": 2930,
          "startIntronDirection": "-",
          "startIntronOffset": 3208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683489.1:c.2292-3208C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508403.1:n.2292-3208C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828463"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2957,
          "endIntronDirection": "-",
          "endIntronOffset": 3207,
          "referenceAllele": "C",
          "start": 2957,
          "startIntronDirection": "-",
          "startIntronOffset": 3208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683680.1:c.2319-3208C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507223.1:n.2319-3208C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828651"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2355,
          "endIntronDirection": "-",
          "endIntronOffset": 3675,
          "referenceAllele": "C",
          "start": 2355,
          "startIntronDirection": "-",
          "startIntronOffset": 3676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684163.1:c.2204-3676C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508262.1:n.2204-3676C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829121"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4542,
          "endIntronDirection": "-",
          "endIntronOffset": 3675,
          "referenceAllele": "C",
          "start": 4542,
          "startIntronDirection": "-",
          "startIntronOffset": 3676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684196.1:n.4543-3676C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829154"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2824,
          "endIntronDirection": "-",
          "endIntronOffset": 11485,
          "referenceAllele": "C",
          "start": 2824,
          "startIntronDirection": "-",
          "startIntronOffset": 11486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684325.1:c.2186-11486C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508121.1:n.2186-11486C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829280"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2859,
          "endIntronDirection": "-",
          "endIntronOffset": 3675,
          "referenceAllele": "C",
          "start": 2859,
          "startIntronDirection": "-",
          "startIntronOffset": 3676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684385.1:c.2221-3676C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507855.1:n.2221-3676C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829340"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2824,
          "endIntronDirection": "-",
          "endIntronOffset": 10515,
          "referenceAllele": "C",
          "start": 2824,
          "startIntronDirection": "-",
          "startIntronOffset": 10516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684497.1:c.2186-10516C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507057.1:n.2186-10516C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829451"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11305,
          "referenceAllele": "C",
          "start": 11304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.9:c.10716C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.Pro3572="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752641",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.10716C>G"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.10716C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Pro3572="
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Pro3572="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2812,
          "endIntronDirection": "-",
          "endIntronOffset": 3675,
          "referenceAllele": "C",
          "start": 2812,
          "startIntronDirection": "-",
          "startIntronOffset": 3676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000423156.2:c.2186-3676C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390925.2:n.2186-3676C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754964"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3019,
          "endIntronDirection": "-",
          "endIntronOffset": 3675,
          "referenceAllele": "C",
          "start": 3019,
          "startIntronDirection": "-",
          "startIntronOffset": 3676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.6:c.2432-3676C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406565.2:n.2432-3676C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756513"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10990,
          "referenceAllele": "C",
          "start": 10989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.7:c.10716C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.Pro3572="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11331,
          "referenceAllele": "C",
          "start": 11330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382298.7:c.10716C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371735.3:p.Pro3572="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273698"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10800,
          "referenceAllele": "C",
          "start": 10799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000402364.1:c.8466C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385844.1:p.Pro2822="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279490"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1057,
          "endIntronDirection": "-",
          "endIntronOffset": 3675,
          "referenceAllele": "C",
          "start": 1057,
          "startIntronDirection": "-",
          "startIntronOffset": 3676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000423156.1:c.1058-3676C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390925.1:n.1058-3676C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287621"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2129,
          "endIntronDirection": "-",
          "endIntronOffset": 3675,
          "referenceAllele": "C",
          "start": 2129,
          "startIntronDirection": "-",
          "startIntronOffset": 3676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.5:c.2130-3676C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS303060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826578298",
      "coordinates": [
        {
          "allele": "G",
          "end": 10800,
          "referenceAllele": "C",
          "start": 10799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.1:c.10275C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.Pro3425="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829764752",
      "coordinates": [
        {
          "allele": "G",
          "end": 11331,
          "referenceAllele": "C",
          "start": 11330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.5:c.10716C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Pro3572="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033115"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11358,
          "referenceAllele": "C",
          "start": 11357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.1:c.10743C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.Pro3581="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10785,
          "referenceAllele": "C",
          "start": 10784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535038.1:c.10767C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533340.1:p.Pro3589="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102048"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10855,
          "referenceAllele": "C",
          "start": 10854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.1:c.10734C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.Pro3578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102049"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11358,
          "referenceAllele": "C",
          "start": 11357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.2:c.10743C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.Pro3581="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536218"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10966,
          "referenceAllele": "C",
          "start": 10965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.2:c.10734C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.Pro3578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551886"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10939,
          "referenceAllele": "C",
          "start": 10938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_017020539.1:c.10707C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876028.1:p.Pro3569="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11382,
          "referenceAllele": "C",
          "start": 11381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_024449337.1:c.10743C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305105.1:p.Pro3581="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829764752",
      "coordinates": [
        {
          "allele": "G",
          "end": 11305,
          "referenceAllele": "C",
          "start": 11304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.6:c.10716C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Pro3572="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668309",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.10716C>G"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.10716C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Pro3572="
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Pro3572="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826578298",
      "coordinates": [
        {
          "allele": "G",
          "end": 10765,
          "referenceAllele": "C",
          "start": 10764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.2:c.10275C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.Pro3425="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681389"
    }
  ],
  "type": "nucleotide"
}