{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA15266874",
  "communityStandardTitle": [
    "NM_001146156.2(GSK3B):c.1195+4251T>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.119557851A>T?assembly=hg19",
        "id": "chr3:g.119557851A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.119839004A>T?assembly=hg38",
        "id": "chr3:g.119839004A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/6808874",
        "rs": 6808874
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-119557851-A-T?dataset=gnomad_r2_1",
        "id": "3-119557851-A-T",
        "variant": "3:119557851 A / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-119839004-A-T?dataset=gnomad_r3",
        "id": "3-119839004-A-T",
        "variant": "3:119839004 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-119839004-A-T?dataset=gnomad_r4",
        "id": "3-119839004-A-T",
        "variant": "3:119839004 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 119839004,
          "referenceAllele": "A",
          "start": 119839003
        }
      ],
      "hgvs": [
        "NC_000003.12:g.119839004A>T",
        "CM000665.2:g.119839004A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 119557851,
          "referenceAllele": "A",
          "start": 119557850
        }
      ],
      "hgvs": [
        "NC_000003.11:g.119557851A>T",
        "CM000665.1:g.119557851A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 121040541,
          "referenceAllele": "A",
          "start": 121040540
        }
      ],
      "hgvs": [
        "NC_000003.10:g.121040541A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 260414,
          "referenceAllele": "T",
          "start": 260413
        }
      ],
      "hgvs": [
        "NG_012922.1:g.260414T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002619"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2208,
          "endIntronDirection": "+",
          "endIntronOffset": 4251,
          "referenceAllele": "T",
          "start": 2208,
          "startIntronDirection": "+",
          "startIntronOffset": 4250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000264235.13:c.1195+4251T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264235.9:n.1195+4251T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742643",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264235.13:c.1195+4251T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001146156.2:c.1195+4251T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264235.9:n.1195+4251T>A"
          },
          "RefSeq": {
            "hgvs": "NP_001139628.1:n.1195+4251T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1466,
          "endIntronDirection": "+",
          "endIntronOffset": 4251,
          "referenceAllele": "T",
          "start": 1466,
          "startIntronDirection": "+",
          "startIntronOffset": 4250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000316626.6:c.1234+4251T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324806.5:n.1234+4251T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746077"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1553,
          "endIntronDirection": "-",
          "endIntronOffset": 12148,
          "referenceAllele": "T",
          "start": 1553,
          "startIntronDirection": "-",
          "startIntronOffset": 12149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000650344.2:c.1097-12149T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497956.2:n.1097-12149T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771065"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1021,
          "endIntronDirection": "+",
          "endIntronOffset": 4251,
          "referenceAllele": "T",
          "start": 1021,
          "startIntronDirection": "+",
          "startIntronOffset": 4250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000676566.1:n.1021+4251T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776244"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 195,
          "endIntronDirection": "+",
          "endIntronOffset": 4251,
          "referenceAllele": "T",
          "start": 195,
          "startIntronDirection": "+",
          "startIntronOffset": 4250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000676910.1:c.195+4251T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504338.1:n.195+4251T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776581"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 978,
          "endIntronDirection": "+",
          "endIntronOffset": 4251,
          "referenceAllele": "T",
          "start": 978,
          "startIntronDirection": "+",
          "startIntronOffset": 4250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000677502.1:n.978+4251T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777164"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 99,
          "endIntronDirection": "-",
          "endIntronOffset": 726,
          "referenceAllele": "T",
          "start": 99,
          "startIntronDirection": "-",
          "startIntronOffset": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000677959.1:n.100-727T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 197,
          "endIntronDirection": "+",
          "endIntronOffset": 4251,
          "referenceAllele": "T",
          "start": 197,
          "startIntronDirection": "+",
          "startIntronOffset": 4250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000678013.1:c.197+4251T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777663"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 165,
          "endIntronDirection": "+",
          "endIntronOffset": 1793,
          "referenceAllele": "T",
          "start": 165,
          "startIntronDirection": "+",
          "startIntronOffset": 1792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000678159.1:c.165+1793T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777809"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1658,
          "endIntronDirection": "+",
          "endIntronOffset": 4251,
          "referenceAllele": "T",
          "start": 1658,
          "startIntronDirection": "+",
          "startIntronOffset": 4250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000678439.1:c.1195+4251T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503868.1:n.1195+4251T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 238,
          "endIntronDirection": "+",
          "endIntronOffset": 1793,
          "referenceAllele": "T",
          "start": 238,
          "startIntronDirection": "+",
          "startIntronOffset": 1792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000679068.1:c.238+1793T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778703"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 96,
          "endIntronDirection": "-",
          "endIntronOffset": 12148,
          "referenceAllele": "T",
          "start": 96,
          "startIntronDirection": "-",
          "startIntronOffset": 12149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000679201.1:c.97-12149T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502998.1:n.97-12149T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778835"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 131,
          "endIntronDirection": "-",
          "endIntronOffset": 12148,
          "referenceAllele": "T",
          "start": 131,
          "startIntronDirection": "-",
          "startIntronOffset": 12149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000679206.1:c.132-12149T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502943.1:n.132-12149T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2178,
          "endIntronDirection": "+",
          "endIntronOffset": 4251,
          "referenceAllele": "T",
          "start": 2178,
          "startIntronDirection": "+",
          "startIntronOffset": 4250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000264235.12:c.1195+4251T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264235.8:n.1195+4251T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251456"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1466,
          "endIntronDirection": "+",
          "endIntronOffset": 4251,
          "referenceAllele": "T",
          "start": 1466,
          "startIntronDirection": "+",
          "startIntronOffset": 4250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000316626.5:c.1234+4251T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324806.5:n.1234+4251T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 283,
          "endIntronDirection": "-",
          "endIntronOffset": 12148,
          "referenceAllele": "T",
          "start": 283,
          "startIntronDirection": "-",
          "startIntronOffset": 12149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000473886.1:n.284-12149T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315525"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 355,
          "endIntronDirection": "+",
          "endIntronOffset": 4251,
          "referenceAllele": "T",
          "start": 355,
          "startIntronDirection": "+",
          "startIntronOffset": 4250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000474830.1:n.355+4251T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316245"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2178,
          "endIntronDirection": "+",
          "endIntronOffset": 4251,
          "referenceAllele": "T",
          "start": 2178,
          "startIntronDirection": "+",
          "startIntronOffset": 4250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "NM_001146156.1:c.1195+4251T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139628.1:n.1195+4251T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2217,
          "endIntronDirection": "+",
          "endIntronOffset": 4251,
          "referenceAllele": "T",
          "start": 2217,
          "startIntronDirection": "+",
          "startIntronOffset": 4250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "NM_002093.3:c.1234+4251T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002084.2:n.1234+4251T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027417"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1593,
          "endIntronDirection": "-",
          "endIntronOffset": 12148,
          "referenceAllele": "T",
          "start": 1593,
          "startIntronDirection": "-",
          "startIntronOffset": 12149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "XM_006713610.1:c.1136-12149T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713673.1:n.1136-12149T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1554,
          "endIntronDirection": "-",
          "endIntronOffset": 12148,
          "referenceAllele": "T",
          "start": 1554,
          "startIntronDirection": "-",
          "startIntronOffset": 12149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "XM_006713611.1:c.1097-12149T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713674.1:n.1097-12149T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070261"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2079,
          "endIntronDirection": "-",
          "endIntronOffset": 12148,
          "referenceAllele": "T",
          "start": 2079,
          "startIntronDirection": "-",
          "startIntronOffset": 12149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "NM_001354596.1:c.1097-12149T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341525.1:n.1097-12149T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522541"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1491,
          "endIntronDirection": "-",
          "endIntronOffset": 12148,
          "referenceAllele": "T",
          "start": 1491,
          "startIntronDirection": "-",
          "startIntronOffset": 12149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "XM_006713610.3:c.1136-12149T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713673.1:n.1136-12149T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2208,
          "endIntronDirection": "+",
          "endIntronOffset": 4251,
          "referenceAllele": "T",
          "start": 2208,
          "startIntronDirection": "+",
          "startIntronOffset": 4250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "NM_001146156.2:c.1195+4251T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139628.1:n.1195+4251T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677994",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264235.13:c.1195+4251T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001146156.2:c.1195+4251T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264235.9:n.1195+4251T>A"
          },
          "RefSeq": {
            "hgvs": "NP_001139628.1:n.1195+4251T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2109,
          "endIntronDirection": "-",
          "endIntronOffset": 12148,
          "referenceAllele": "T",
          "start": 2109,
          "startIntronDirection": "-",
          "startIntronOffset": 12149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "NM_001354596.2:c.1097-12149T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341525.1:n.1097-12149T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2247,
          "endIntronDirection": "+",
          "endIntronOffset": 4251,
          "referenceAllele": "T",
          "start": 2247,
          "startIntronDirection": "+",
          "startIntronOffset": 4250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "NM_002093.4:c.1234+4251T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002084.2:n.1234+4251T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695453"
    }
  ],
  "type": "nucleotide"
}