{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA387507237",
  "communityStandardTitle": [
    "NM_014363.6(SACS):c.2T>C (p.Met1Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=546951[alleleid]",
        "alleleId": 546951,
        "preferredName": "NM_014363.6(SACS):c.2T>C (p.Met1Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/551547",
        "RCV": [
          "RCV000666635"
        ],
        "variationId": 551547
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23985377A>G?assembly=hg19",
        "id": "chr13:g.23985377A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.23411238A>G?assembly=hg38",
        "id": "chr13:g.23411238A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1417057515",
        "rs": 1417057515
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23985377-A-G?dataset=gnomad_r2_1",
        "id": "13-23985377-A-G",
        "variant": "13:23985377 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-23411238-A-G?dataset=gnomad_r4",
        "id": "13-23411238-A-G",
        "variant": "13:23411238 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 23411238,
          "referenceAllele": "A",
          "start": 23411237
        }
      ],
      "hgvs": [
        "NC_000013.11:g.23411238A>G",
        "CM000675.2:g.23411238A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 23985377,
          "referenceAllele": "A",
          "start": 23985376
        }
      ],
      "hgvs": [
        "NC_000013.10:g.23985377A>G",
        "CM000675.1:g.23985377A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 22883377,
          "referenceAllele": "A",
          "start": 22883376
        }
      ],
      "hgvs": [
        "NC_000013.9:g.22883377A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 27465,
          "referenceAllele": "T",
          "start": 27464
        }
      ],
      "hgvs": [
        "NG_012342.1:g.27465T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002379"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 575,
          "referenceAllele": "T",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682244.1:n.575T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827239"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 572,
          "referenceAllele": "T",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682547.1:c.39T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507735.1:p.His13="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827537"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 641,
          "referenceAllele": "T",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682775.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508399.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000508399.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827764"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 641,
          "referenceAllele": "T",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000682944.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507173.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000507173.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 641,
          "referenceAllele": "T",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683210.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506739.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000506739.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828192"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 641,
          "referenceAllele": "T",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683489.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508403.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000508403.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828463"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 652,
          "referenceAllele": "T",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683638.1:n.652T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828610"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 641,
          "referenceAllele": "T",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000683680.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507223.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000507223.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828651"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 641,
          "referenceAllele": "T",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684325.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508121.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000508121.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829280"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 641,
          "referenceAllele": "T",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684385.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507855.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000507855.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 641,
          "referenceAllele": "T",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000684497.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507057.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000507057.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829451"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 591,
          "referenceAllele": "T",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.9:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000371729.3:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752641",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Met1Thr"
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Met1Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 629,
          "referenceAllele": "T",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000423156.2:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390925.2:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000390925.2:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754964"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 590,
          "referenceAllele": "T",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000455470.6:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406565.2:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000406565.2:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756513"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 276,
          "referenceAllele": "T",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382292.7:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371729.3:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000371729.3:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273693"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 617,
          "referenceAllele": "T",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "ENST00000382298.7:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371735.3:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000371735.3:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273698"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658831504",
      "coordinates": [
        {
          "allele": "C",
          "end": 617,
          "referenceAllele": "T",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.5:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Met1Thr",
        "hgvsWellDefined": "NP_055178.3:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 617,
          "referenceAllele": "T",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.Met1Thr",
        "hgvsWellDefined": "XP_005266395.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 617,
          "referenceAllele": "T",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_005266338.2:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266395.1:p.Met1Thr",
        "hgvsWellDefined": "XP_005266395.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536218"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 641,
          "referenceAllele": "T",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_024449337.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305105.1:p.Met1Thr",
        "hgvsWellDefined": "XP_024305105.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658831504",
      "coordinates": [
        {
          "allele": "C",
          "end": 591,
          "referenceAllele": "T",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.6:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Met1Thr",
        "hgvsWellDefined": "NP_055178.3:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668309",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Met1Thr"
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Met1Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}