{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10939287",
  "communityStandardTitle": [
    "NM_001367484.1(GLIS1):c.259+12784G>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.54190695C>A?assembly=hg19",
        "id": "chr1:g.54190695C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.53725022C>A?assembly=hg38",
        "id": "chr1:g.53725022C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/797906",
        "rs": 797906
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-54190695-C-A?dataset=gnomad_r2_1",
        "id": "1-54190695-C-A",
        "variant": "1:54190695 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-53725022-C-A?dataset=gnomad_r3",
        "id": "1-53725022-C-A",
        "variant": "1:53725022 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-53725022-C-A?dataset=gnomad_r4",
        "id": "1-53725022-C-A",
        "variant": "1:53725022 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 53725022,
          "referenceAllele": "C",
          "start": 53725021
        }
      ],
      "hgvs": [
        "NC_000001.11:g.53725022C>A",
        "CM000663.2:g.53725022C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 54190695,
          "referenceAllele": "C",
          "start": 54190694
        }
      ],
      "hgvs": [
        "NC_000001.10:g.54190695C>A",
        "CM000663.1:g.54190695C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 53963283,
          "referenceAllele": "C",
          "start": 53963282
        }
      ],
      "hgvs": [
        "NC_000001.9:g.53963283C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 361,
          "endIntronDirection": "+",
          "endIntronOffset": 12784,
          "referenceAllele": "G",
          "start": 361,
          "startIntronDirection": "+",
          "startIntronOffset": 12783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029525",
      "geneNCBI_id": 148979,
      "geneSymbol": "GLIS1",
      "hgvs": [
        "ENST00000628545.2:c.259+12784G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486112.1:n.259+12784G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826616",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000628545.2:c.259+12784G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001367484.1:c.259+12784G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000486112.1:n.259+12784G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001354413.1:n.259+12784G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 301,
          "endIntronDirection": "+",
          "endIntronOffset": 8882,
          "referenceAllele": "G",
          "start": 301,
          "startIntronDirection": "+",
          "startIntronOffset": 8881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029525",
      "geneNCBI_id": 148979,
      "geneSymbol": "GLIS1",
      "hgvs": [
        "ENST00000312233.4:c.-267+8882G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309653.2:n.-267+8882G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256649"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 301,
          "endIntronDirection": "+",
          "endIntronOffset": 12784,
          "referenceAllele": "G",
          "start": 301,
          "startIntronDirection": "+",
          "startIntronOffset": 12783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029525",
      "geneNCBI_id": 148979,
      "geneSymbol": "GLIS1",
      "hgvs": [
        "ENST00000628545.1:c.259+12784G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486112.1:n.259+12784G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407065"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 301,
          "endIntronDirection": "+",
          "endIntronOffset": 8882,
          "referenceAllele": "G",
          "start": 301,
          "startIntronDirection": "+",
          "startIntronOffset": 8881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029525",
      "geneNCBI_id": 148979,
      "geneSymbol": "GLIS1",
      "hgvs": [
        "NM_147193.2:c.-267+8882G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_671726.2:n.-267+8882G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041625"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 520,
          "endIntronDirection": "+",
          "endIntronOffset": 12784,
          "referenceAllele": "G",
          "start": 520,
          "startIntronDirection": "+",
          "startIntronOffset": 12783
        }
      ],
      "hgvs": [
        "XM_011542547.1:c.520+12784G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540849.1:n.520+12784G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109478"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 368,
          "endIntronDirection": "+",
          "endIntronOffset": 12784,
          "referenceAllele": "G",
          "start": 368,
          "startIntronDirection": "+",
          "startIntronOffset": 12783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029525",
      "geneNCBI_id": 148979,
      "geneSymbol": "GLIS1",
      "hgvs": [
        "XM_017000408.1:c.259+12784G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855897.1:n.259+12784G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556782"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 368,
          "endIntronDirection": "+",
          "endIntronOffset": 12784,
          "referenceAllele": "G",
          "start": 368,
          "startIntronDirection": "+",
          "startIntronOffset": 12783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029525",
      "geneNCBI_id": 148979,
      "geneSymbol": "GLIS1",
      "hgvs": [
        "XM_017000409.1:c.259+12784G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855898.1:n.259+12784G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556783"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 482,
          "endIntronDirection": "+",
          "endIntronOffset": 12784,
          "referenceAllele": "G",
          "start": 482,
          "startIntronDirection": "+",
          "startIntronOffset": 12783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029525",
      "geneNCBI_id": 148979,
      "geneSymbol": "GLIS1",
      "hgvs": [
        "XM_017000410.1:c.259+12784G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855899.1:n.259+12784G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 368,
          "endIntronDirection": "+",
          "endIntronOffset": 12784,
          "referenceAllele": "G",
          "start": 368,
          "startIntronDirection": "+",
          "startIntronOffset": 12783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029525",
      "geneNCBI_id": 148979,
      "geneSymbol": "GLIS1",
      "hgvs": [
        "XM_017000411.1:c.259+12784G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855900.1:n.259+12784G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 368,
          "endIntronDirection": "+",
          "endIntronOffset": 12784,
          "referenceAllele": "G",
          "start": 368,
          "startIntronDirection": "+",
          "startIntronOffset": 12783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029525",
      "geneNCBI_id": 148979,
      "geneSymbol": "GLIS1",
      "hgvs": [
        "XM_017000412.1:c.259+12784G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855901.1:n.259+12784G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 361,
          "endIntronDirection": "+",
          "endIntronOffset": 12784,
          "referenceAllele": "G",
          "start": 361,
          "startIntronDirection": "+",
          "startIntronOffset": 12783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029525",
      "geneNCBI_id": 148979,
      "geneSymbol": "GLIS1",
      "hgvs": [
        "NM_001367484.1:c.259+12784G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354413.1:n.259+12784G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664610",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000628545.2:c.259+12784G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001367484.1:c.259+12784G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000486112.1:n.259+12784G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001354413.1:n.259+12784G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 361,
          "endIntronDirection": "+",
          "endIntronOffset": 12784,
          "referenceAllele": "G",
          "start": 361,
          "startIntronDirection": "+",
          "startIntronOffset": 12783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029525",
      "geneNCBI_id": 148979,
      "geneSymbol": "GLIS1",
      "hgvs": [
        "NM_001390836.1:c.259+12784G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001377765.1:n.259+12784G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS726321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 389,
          "endIntronDirection": "+",
          "endIntronOffset": 12784,
          "referenceAllele": "G",
          "start": 389,
          "startIntronDirection": "+",
          "startIntronOffset": 12783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029525",
      "geneNCBI_id": 148979,
      "geneSymbol": "GLIS1",
      "hgvs": [
        "NM_001390837.1:c.259+12784G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001377766.1:n.259+12784G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS726322"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 361,
          "endIntronDirection": "+",
          "endIntronOffset": 12784,
          "referenceAllele": "G",
          "start": 361,
          "startIntronDirection": "+",
          "startIntronOffset": 12783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029525",
      "geneNCBI_id": 148979,
      "geneSymbol": "GLIS1",
      "hgvs": [
        "NM_001390838.1:c.259+12784G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001377767.1:n.259+12784G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS726323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 300,
          "endIntronDirection": "+",
          "endIntronOffset": 8882,
          "referenceAllele": "G",
          "start": 300,
          "startIntronDirection": "+",
          "startIntronOffset": 8881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029525",
      "geneNCBI_id": 148979,
      "geneSymbol": "GLIS1",
      "hgvs": [
        "NM_147193.4:c.-267+8882G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_671726.2:n.-267+8882G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729331"
    }
  ],
  "type": "nucleotide"
}