{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA243568",
  "communityStandardTitle": [
    "NM_032575.3(GLIS2):c.522+10G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=193730[alleleid]",
        "alleleId": 193730,
        "preferredName": "NM_032575.3(GLIS2):c.522+10G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/196569",
        "RCV": [
          "RCV000177391",
          "RCV001431810"
        ],
        "variationId": 196569
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-4384988-G-A",
        "id": "16-4384988-G-A",
        "variant": "16:4384988 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.4384988G>A?assembly=hg19",
        "id": "chr16:g.4384988G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.4334987G>A?assembly=hg38",
        "id": "chr16:g.4334987G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/569937790",
        "rs": 569937790
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-4384988-G-A?dataset=gnomad_r2_1",
        "id": "16-4384988-G-A",
        "variant": "16:4384988 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-4334987-G-A?dataset=gnomad_r3",
        "id": "16-4334987-G-A",
        "variant": "16:4334987 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-4334987-G-A?dataset=gnomad_r4",
        "id": "16-4334987-G-A",
        "variant": "16:4334987 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 4334987,
          "referenceAllele": "G",
          "start": 4334986
        }
      ],
      "hgvs": [
        "NC_000016.10:g.4334987G>A",
        "CM000678.2:g.4334987G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 4384988,
          "referenceAllele": "G",
          "start": 4384987
        }
      ],
      "hgvs": [
        "NC_000016.9:g.4384988G>A",
        "CM000678.1:g.4384988G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 4324989,
          "referenceAllele": "G",
          "start": 4324988
        }
      ],
      "hgvs": [
        "NC_000016.8:g.4324989G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7764,
          "referenceAllele": "G",
          "start": 7763
        }
      ],
      "hgvs": [
        "NG_016391.1:g.7764G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25227,
          "referenceAllele": "G",
          "start": 25226
        }
      ],
      "hgvs": [
        "NG_016391.2:g.25227G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616225"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 776,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 776,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029450",
      "geneNCBI_id": 84662,
      "geneSymbol": "GLIS2",
      "hgvs": [
        "ENST00000433375.2:c.522+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395547.1:n.522+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755454",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000433375.2:c.522+10G>A"
          },
          "RefSeq": {
            "hgvs": "NM_032575.3:c.522+10G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395547.1:n.522+10G>A"
          },
          "RefSeq": {
            "hgvs": "NP_115964.2:n.522+10G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1343,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 1343,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029450",
      "geneNCBI_id": 84662,
      "geneSymbol": "GLIS2",
      "hgvs": [
        "ENST00000262366.7:c.522+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262366.3:n.522+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250997"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 579,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 579,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029450",
      "geneNCBI_id": 84662,
      "geneSymbol": "GLIS2",
      "hgvs": [
        "ENST00000433375.1:c.522+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395547.1:n.522+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 322,
          "endIntronDirection": "-",
          "endIntronOffset": 3212,
          "referenceAllele": "C",
          "start": 322,
          "startIntronDirection": "-",
          "startIntronOffset": 3213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029679",
      "geneNCBI_id": 51025,
      "geneSymbol": "PAM16",
      "hgvs": [
        "ENST00000577031.5:c.292-3213C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459113.1:n.292-3213C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384698"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 579,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 579,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029450",
      "geneNCBI_id": 84662,
      "geneSymbol": "GLIS2",
      "hgvs": [
        "NM_032575.2:c.522+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115964.2:n.522+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 662,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 662,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029450",
      "geneNCBI_id": 84662,
      "geneSymbol": "GLIS2",
      "hgvs": [
        "XM_005255641.3:c.522+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255698.1:n.522+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 643,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 643,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029450",
      "geneNCBI_id": 84662,
      "geneSymbol": "GLIS2",
      "hgvs": [
        "XM_005255642.2:c.522+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255699.1:n.522+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1343,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 1343,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029450",
      "geneNCBI_id": 84662,
      "geneSymbol": "GLIS2",
      "hgvs": [
        "NM_001318918.1:c.522+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305847.1:n.522+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 644,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 644,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029450",
      "geneNCBI_id": 84662,
      "geneSymbol": "GLIS2",
      "hgvs": [
        "XM_005255641.4:c.522+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255698.1:n.522+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534310"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 776,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 776,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029450",
      "geneNCBI_id": 84662,
      "geneSymbol": "GLIS2",
      "hgvs": [
        "NM_032575.3:c.522+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_115964.2:n.522+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699144",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000433375.2:c.522+10G>A"
          },
          "RefSeq": {
            "hgvs": "NM_032575.3:c.522+10G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395547.1:n.522+10G>A"
          },
          "RefSeq": {
            "hgvs": "NP_115964.2:n.522+10G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1343,
          "endIntronDirection": "+",
          "endIntronOffset": 10,
          "referenceAllele": "G",
          "start": 1343,
          "startIntronDirection": "+",
          "startIntronOffset": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029450",
      "geneNCBI_id": 84662,
      "geneSymbol": "GLIS2",
      "hgvs": [
        "NM_001318918.2:c.522+10G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305847.1:n.522+10G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717628"
    }
  ],
  "type": "nucleotide"
}