{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10693682",
  "communityStandardTitle": [
    "NM_005819.6(STX6):c.490-481A>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.180957962T>G?assembly=hg19",
        "id": "chr1:g.180957962T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.180988826T>G?assembly=hg38",
        "id": "chr1:g.180988826T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/12754041",
        "rs": 12754041
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-180957962-T-G?dataset=gnomad_r2_1",
        "id": "1-180957962-T-G",
        "variant": "1:180957962 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-180988826-T-G?dataset=gnomad_r3",
        "id": "1-180988826-T-G",
        "variant": "1:180988826 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-180988826-T-G?dataset=gnomad_r4",
        "id": "1-180988826-T-G",
        "variant": "1:180988826 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 180988826,
          "referenceAllele": "T",
          "start": 180988825
        }
      ],
      "hgvs": [
        "NC_000001.11:g.180988826T>G",
        "CM000663.2:g.180988826T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 180957962,
          "referenceAllele": "T",
          "start": 180957961
        }
      ],
      "hgvs": [
        "NC_000001.10:g.180957962T>G",
        "CM000663.1:g.180957962T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 179224585,
          "referenceAllele": "T",
          "start": 179224584
        }
      ],
      "hgvs": [
        "NC_000001.9:g.179224585T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 686,
          "endIntronDirection": "-",
          "endIntronOffset": 480,
          "referenceAllele": "A",
          "start": 686,
          "startIntronDirection": "-",
          "startIntronOffset": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011441",
      "geneNCBI_id": 10228,
      "geneSymbol": "STX6",
      "hgvs": [
        "ENST00000258301.6:c.490-481A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258301.5:n.490-481A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741891",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258301.6:c.490-481A>C"
          },
          "RefSeq": {
            "hgvs": "NM_005819.6:c.490-481A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258301.5:n.490-481A>C"
          },
          "RefSeq": {
            "hgvs": "NP_005810.1:n.490-481A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 727,
          "endIntronDirection": "-",
          "endIntronOffset": 480,
          "referenceAllele": "A",
          "start": 727,
          "startIntronDirection": "-",
          "startIntronOffset": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011441",
      "geneNCBI_id": 10228,
      "geneSymbol": "STX6",
      "hgvs": [
        "ENST00000258301.5:c.490-481A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258301.5:n.490-481A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250364"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 552,
          "referenceAllele": "A",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011441",
      "geneNCBI_id": 10228,
      "geneSymbol": "STX6",
      "hgvs": [
        "ENST00000469135.1:n.552A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 672,
          "endIntronDirection": "-",
          "endIntronOffset": 480,
          "referenceAllele": "A",
          "start": 672,
          "startIntronDirection": "-",
          "startIntronOffset": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011441",
      "geneNCBI_id": 10228,
      "geneSymbol": "STX6",
      "hgvs": [
        "ENST00000542060.5:c.187-481A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440188.1:n.187-481A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 672,
          "endIntronDirection": "-",
          "endIntronOffset": 480,
          "referenceAllele": "A",
          "start": 672,
          "startIntronDirection": "-",
          "startIntronOffset": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011441",
      "geneNCBI_id": 10228,
      "geneSymbol": "STX6",
      "hgvs": [
        "NM_001286210.1:c.187-481A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273139.1:n.187-481A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022799"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 937,
          "endIntronDirection": "-",
          "endIntronOffset": 480,
          "referenceAllele": "A",
          "start": 937,
          "startIntronDirection": "-",
          "startIntronOffset": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011441",
      "geneNCBI_id": 10228,
      "geneSymbol": "STX6",
      "hgvs": [
        "NM_005819.5:c.490-481A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005810.1:n.490-481A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030883"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 937,
          "endIntronDirection": "-",
          "endIntronOffset": 480,
          "referenceAllele": "A",
          "start": 937,
          "startIntronDirection": "-",
          "startIntronOffset": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011441",
      "geneNCBI_id": 10228,
      "geneSymbol": "STX6",
      "hgvs": [
        "XM_011509058.1:c.490-481A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507360.1:n.490-481A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076328"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 712,
          "endIntronDirection": "-",
          "endIntronOffset": 480,
          "referenceAllele": "A",
          "start": 712,
          "startIntronDirection": "-",
          "startIntronOffset": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011441",
      "geneNCBI_id": 10228,
      "geneSymbol": "STX6",
      "hgvs": [
        "XM_011509059.1:c.187-481A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507361.1:n.187-481A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076329"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 712,
          "endIntronDirection": "-",
          "endIntronOffset": 480,
          "referenceAllele": "A",
          "start": 712,
          "startIntronDirection": "-",
          "startIntronOffset": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011441",
      "geneNCBI_id": 10228,
      "geneSymbol": "STX6",
      "hgvs": [
        "XM_017000007.1:c.187-481A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855496.1:n.187-481A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556461"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 686,
          "endIntronDirection": "-",
          "endIntronOffset": 480,
          "referenceAllele": "A",
          "start": 686,
          "startIntronDirection": "-",
          "startIntronOffset": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011441",
      "geneNCBI_id": 10228,
      "geneSymbol": "STX6",
      "hgvs": [
        "NM_005819.6:c.490-481A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005810.1:n.490-481A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667155",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258301.6:c.490-481A>C"
          },
          "RefSeq": {
            "hgvs": "NM_005819.6:c.490-481A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258301.5:n.490-481A>C"
          },
          "RefSeq": {
            "hgvs": "NP_005810.1:n.490-481A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 421,
          "endIntronDirection": "-",
          "endIntronOffset": 480,
          "referenceAllele": "A",
          "start": 421,
          "startIntronDirection": "-",
          "startIntronOffset": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011441",
      "geneNCBI_id": 10228,
      "geneSymbol": "STX6",
      "hgvs": [
        "NM_001286210.2:c.187-481A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273139.1:n.187-481A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716152"
    }
  ],
  "type": "nucleotide"
}