{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6911287",
  "communityStandardTitle": [
    "NM_014363.6(SACS):c.5169A>G (p.Ala1723=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=693342[alleleid]",
        "alleleId": 693342,
        "preferredName": "NM_014363.6(SACS):c.5169A>G (p.Ala1723=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/704266",
        "RCV": [
          "RCV000874244",
          "RCV001109529"
        ],
        "variationId": 704266
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-23912846-T-C",
        "id": "13-23912846-T-C",
        "variant": "13:23912846 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23912846T>C?assembly=hg19",
        "id": "chr13:g.23912846T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23338707T>C?assembly=hg38",
        "id": "chr13:g.23338707T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200699984",
        "rs": 200699984
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23912846-T-C?dataset=gnomad_r2_1",
        "id": "13-23912846-T-C",
        "variant": "13:23912846 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23338707-T-C?dataset=gnomad_r3",
        "id": "13-23338707-T-C",
        "variant": "13:23338707 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23338707-T-C?dataset=gnomad_r4",
        "id": "13-23338707-T-C",
        "variant": "13:23338707 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 23338707,
          "referenceAllele": "T",
          "start": 23338706
        }
      ],
      "hgvs": [
        "NC_000013.11:g.23338707T>C",
        "CM000675.2:g.23338707T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 23912846,
          "referenceAllele": "T",
          "start": 23912845
        }
      ],
      "hgvs": [
        "NC_000013.10:g.23912846T>C",
        "CM000675.1:g.23912846T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 22810846,
          "referenceAllele": "T",
          "start": 22810845
        }
      ],
      "hgvs": [
        "NC_000013.9:g.22810846T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 99996,
          "referenceAllele": "A",
          "start": 99995
        }
      ],
      "hgvs": [
        "NG_012342.1:g.99996A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002379"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2824,
          "endIntronDirection": "+",
          "endIntronOffset": 15078,
          "referenceAllele": "A",
          "start": 2824,
          "startIntronDirection": "+",
          "startIntronOffset": 15077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682775.1:c.2185+15078A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508399.1:n.2185+15078A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827764"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5835,
          "referenceAllele": "A",
          "start": 5834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682944.1:c.5196A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507173.1:p.Ala1732="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827932"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2824,
          "endIntronDirection": "+",
          "endIntronOffset": 15078,
          "referenceAllele": "A",
          "start": 2824,
          "startIntronDirection": "+",
          "startIntronOffset": 15077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683210.1:c.2185+15078A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506739.1:n.2185+15078A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828192"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5289,
          "referenceAllele": "A",
          "start": 5288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683270.1:c.5160A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507624.1:p.Ala1720="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828251"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2414,
          "endIntronDirection": "-",
          "endIntronOffset": 9222,
          "referenceAllele": "A",
          "start": 2414,
          "startIntronDirection": "-",
          "startIntronOffset": 9223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683367.1:c.2177-9223A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507780.1:n.2177-9223A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828347"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2930,
          "endIntronDirection": "+",
          "endIntronOffset": 2878,
          "referenceAllele": "A",
          "start": 2930,
          "startIntronDirection": "+",
          "startIntronOffset": 2877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683489.1:c.2291+2878A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508403.1:n.2291+2878A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828463"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2957,
          "endIntronDirection": "+",
          "endIntronOffset": 2878,
          "referenceAllele": "A",
          "start": 2957,
          "startIntronDirection": "+",
          "startIntronOffset": 2877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683680.1:c.2318+2878A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507223.1:n.2318+2878A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828651"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2355,
          "endIntronDirection": "+",
          "endIntronOffset": 8104,
          "referenceAllele": "A",
          "start": 2355,
          "startIntronDirection": "+",
          "startIntronOffset": 8103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684163.1:c.2203+8104A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508262.1:n.2203+8104A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829121"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4542,
          "endIntronDirection": "-",
          "endIntronOffset": 9222,
          "referenceAllele": "A",
          "start": 4542,
          "startIntronDirection": "-",
          "startIntronOffset": 9223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684196.1:n.4543-9223A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829154"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2824,
          "endIntronDirection": "+",
          "endIntronOffset": 15078,
          "referenceAllele": "A",
          "start": 2824,
          "startIntronDirection": "+",
          "startIntronOffset": 15077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684325.1:c.2185+15078A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508121.1:n.2185+15078A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829280"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2859,
          "endIntronDirection": "+",
          "endIntronOffset": 8104,
          "referenceAllele": "A",
          "start": 2859,
          "startIntronDirection": "+",
          "startIntronOffset": 8103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684385.1:c.2220+8104A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507855.1:n.2220+8104A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829340"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2824,
          "endIntronDirection": "+",
          "endIntronOffset": 15078,
          "referenceAllele": "A",
          "start": 2824,
          "startIntronDirection": "+",
          "startIntronOffset": 15077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684497.1:c.2185+15078A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507057.1:n.2185+15078A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829451"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5758,
          "referenceAllele": "A",
          "start": 5757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.9:c.5169A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.Ala1723="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752641",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.5169A>G"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.5169A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Ala1723="
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Ala1723="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2812,
          "endIntronDirection": "-",
          "endIntronOffset": 9222,
          "referenceAllele": "A",
          "start": 2812,
          "startIntronDirection": "-",
          "startIntronOffset": 9223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000423156.2:c.2186-9223A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390925.2:n.2186-9223A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754964"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3019,
          "endIntronDirection": "+",
          "endIntronOffset": 2738,
          "referenceAllele": "A",
          "start": 3019,
          "startIntronDirection": "+",
          "startIntronOffset": 2737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.6:c.2431+2738A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406565.2:n.2431+2738A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756513"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5443,
          "referenceAllele": "A",
          "start": 5442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.7:c.5169A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.Ala1723="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5784,
          "referenceAllele": "A",
          "start": 5783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382298.7:c.5169A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371735.3:p.Ala1723="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273698"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5253,
          "referenceAllele": "A",
          "start": 5252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000402364.1:c.2919A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385844.1:p.Ala973="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279490"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1057,
          "endIntronDirection": "-",
          "endIntronOffset": 9222,
          "referenceAllele": "A",
          "start": 1057,
          "startIntronDirection": "-",
          "startIntronOffset": 9223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000423156.1:c.1058-9223A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390925.1:n.1058-9223A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287621"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2129,
          "endIntronDirection": "+",
          "endIntronOffset": 2738,
          "referenceAllele": "A",
          "start": 2129,
          "startIntronDirection": "+",
          "startIntronOffset": 2737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.5:c.2129+2738A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS303060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826576979",
      "coordinates": [
        {
          "allele": "G",
          "end": 5253,
          "referenceAllele": "A",
          "start": 5252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.1:c.4728A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.Ala1576="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829764136",
      "coordinates": [
        {
          "allele": "G",
          "end": 5784,
          "referenceAllele": "A",
          "start": 5783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.5:c.5169A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Ala1723="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033115"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5811,
          "referenceAllele": "A",
          "start": 5810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.1:c.5196A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.Ala1732="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5238,
          "referenceAllele": "A",
          "start": 5237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535038.1:c.5220A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533340.1:p.Ala1740="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102048"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5308,
          "referenceAllele": "A",
          "start": 5307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.1:c.5187A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.Ala1729="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102049"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5811,
          "referenceAllele": "A",
          "start": 5810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.2:c.5196A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.Ala1732="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536218"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5419,
          "referenceAllele": "A",
          "start": 5418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_011535039.2:c.5187A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533341.1:p.Ala1729="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551886"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5392,
          "referenceAllele": "A",
          "start": 5391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_017020539.1:c.5160A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876028.1:p.Ala1720="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5835,
          "referenceAllele": "A",
          "start": 5834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_024449337.1:c.5196A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305105.1:p.Ala1732="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829764136",
      "coordinates": [
        {
          "allele": "G",
          "end": 5758,
          "referenceAllele": "A",
          "start": 5757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.6:c.5169A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Ala1723="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668309",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.5169A>G"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.5169A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Ala1723="
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Ala1723="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826576979",
      "coordinates": [
        {
          "allele": "G",
          "end": 5218,
          "referenceAllele": "A",
          "start": 5217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.2:c.4728A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.Ala1576="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681389"
    }
  ],
  "type": "nucleotide"
}