{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA483164901",
  "communityStandardTitle": [
    "NM_014363.6(SACS):c.696T>C (p.Asn232=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1101773[alleleid]",
        "alleleId": 1101773,
        "preferredName": "NM_014363.6(SACS):c.696T>C (p.Asn232=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1113632",
        "RCV": [
          "RCV001441056"
        ],
        "variationId": 1113632
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23930055A>G?assembly=hg19",
        "id": "chr13:g.23930055A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2031640",
        "rs": 2031640
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23355916-A-G?dataset=gnomad_r4",
        "id": "13-23355916-A-G",
        "variant": "13:23355916 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 23355916,
          "referenceAllele": "A",
          "start": 23355915
        }
      ],
      "hgvs": [
        "NC_000013.11:g.23355916A>G",
        "CM000675.2:g.23355916A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 23930055,
          "referenceAllele": "A",
          "start": 23930054
        }
      ],
      "hgvs": [
        "NC_000013.10:g.23930055A>G",
        "CM000675.1:g.23930055A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 22828055,
          "referenceAllele": "A",
          "start": 22828054
        }
      ],
      "hgvs": [
        "NC_000013.9:g.22828055A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 82787,
          "referenceAllele": "T",
          "start": 82786
        }
      ],
      "hgvs": [
        "NG_012342.1:g.82787T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002379"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1335,
          "referenceAllele": "T",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682775.1:c.696T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508399.1:p.Asn232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827764"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1335,
          "referenceAllele": "T",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682944.1:c.696T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507173.1:p.Asn232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 834,
          "referenceAllele": "T",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683154.1:n.834T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828139"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1335,
          "referenceAllele": "T",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683210.1:c.696T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506739.1:p.Asn232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828192"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 816,
          "referenceAllele": "T",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683270.1:c.687T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507624.1:p.Asn229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828251"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 925,
          "referenceAllele": "T",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683367.1:c.687T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507780.1:p.Asn229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828347"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1335,
          "referenceAllele": "T",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683489.1:c.696T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508403.1:p.Asn232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828463"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1335,
          "referenceAllele": "T",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683680.1:c.696T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507223.1:p.Asn232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828651"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 839,
          "referenceAllele": "T",
          "start": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684163.1:c.687T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508262.1:p.Asn229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829121"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3053,
          "referenceAllele": "T",
          "start": 3052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684196.1:n.3053T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1335,
          "referenceAllele": "T",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684325.1:c.696T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508121.1:p.Asn232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829280"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1335,
          "referenceAllele": "T",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684385.1:c.696T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507855.1:p.Asn232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1335,
          "referenceAllele": "T",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684497.1:c.696T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507057.1:p.Asn232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829451"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1285,
          "referenceAllele": "T",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.9:c.696T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.Asn232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752641",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.696T>C"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.696T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Asn232="
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Asn232="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1323,
          "referenceAllele": "T",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000423156.2:c.696T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390925.2:p.Asn232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754964"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1284,
          "referenceAllele": "T",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.6:c.696T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406565.2:p.Asn232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756513"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 970,
          "referenceAllele": "T",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.7:c.696T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.Asn232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273693"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1311,
          "referenceAllele": "T",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382298.7:c.696T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371735.3:p.Asn232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273698"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 780,
          "referenceAllele": "T",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000402364.1:c.-1555T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385844.1:n.-1555T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279490"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 394,
          "referenceAllele": "T",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.5:c.394T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS303060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826575959",
      "coordinates": [
        {
          "allele": "C",
          "end": 780,
          "referenceAllele": "T",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.1:c.255T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.Asn85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829763582",
      "coordinates": [
        {
          "allele": "C",
          "end": 1311,
          "referenceAllele": "T",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.5:c.696T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Asn232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1311,
          "referenceAllele": "T",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.1:c.696T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.Asn232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 738,
          "referenceAllele": "T",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535038.1:c.720T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533340.1:p.Asn240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102048"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 808,
          "referenceAllele": "T",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.1:c.687T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.Asn229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102049"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1311,
          "referenceAllele": "T",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.2:c.696T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.Asn232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536218"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 919,
          "referenceAllele": "T",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.2:c.687T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.Asn229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551886"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 919,
          "referenceAllele": "T",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_017020539.1:c.687T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876028.1:p.Asn229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1335,
          "referenceAllele": "T",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_024449337.1:c.696T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305105.1:p.Asn232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829763582",
      "coordinates": [
        {
          "allele": "C",
          "end": 1285,
          "referenceAllele": "T",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.6:c.696T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Asn232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668309",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.696T>C"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.696T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Asn232="
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Asn232="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826575959",
      "coordinates": [
        {
          "allele": "C",
          "end": 745,
          "referenceAllele": "T",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.2:c.255T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.Asn85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681389"
    }
  ],
  "type": "nucleotide"
}