{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA238988",
  "communityStandardTitle": [
    "NM_032575.3(GLIS2):c.15C>T (p.Asp5=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=190632[alleleid]",
        "alleleId": 190632,
        "preferredName": "NM_032575.3(GLIS2):c.15C>T (p.Asp5=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/193468",
        "RCV": [
          "RCV000173540",
          "RCV003927587"
        ],
        "variationId": 193468
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-4382296-C-T",
        "id": "16-4382296-C-T",
        "variant": "16:4382296 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.4382296C>T?assembly=hg19",
        "id": "chr16:g.4382296C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.4332295C>T?assembly=hg38",
        "id": "chr16:g.4332295C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/751898309",
        "rs": 751898309
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-4382296-C-T?dataset=gnomad_r2_1",
        "id": "16-4382296-C-T",
        "variant": "16:4382296 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-4332295-C-T?dataset=gnomad_r3",
        "id": "16-4332295-C-T",
        "variant": "16:4332295 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-4332295-C-T?dataset=gnomad_r4",
        "id": "16-4332295-C-T",
        "variant": "16:4332295 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 4332295,
          "referenceAllele": "C",
          "start": 4332294
        }
      ],
      "hgvs": [
        "NC_000016.10:g.4332295C>T",
        "CM000678.2:g.4332295C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 4382296,
          "referenceAllele": "C",
          "start": 4382295
        }
      ],
      "hgvs": [
        "NC_000016.9:g.4382296C>T",
        "CM000678.1:g.4382296C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 4322297,
          "referenceAllele": "C",
          "start": 4322296
        }
      ],
      "hgvs": [
        "NC_000016.8:g.4322297C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5072,
          "referenceAllele": "C",
          "start": 5071
        }
      ],
      "hgvs": [
        "NG_016391.1:g.5072C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22535,
          "referenceAllele": "C",
          "start": 22534
        }
      ],
      "hgvs": [
        "NG_016391.2:g.22535C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616225"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 269,
          "referenceAllele": "C",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029450",
      "geneNCBI_id": 84662,
      "geneSymbol": "GLIS2",
      "hgvs": [
        "ENST00000433375.2:c.15C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395547.1:p.Asp5="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755454",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000433375.2:c.15C>T"
          },
          "RefSeq": {
            "hgvs": "NM_032575.3:c.15C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395547.1:p.Asp5="
          },
          "RefSeq": {
            "hgvs": "NP_115964.2:p.Asp5="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 836,
          "referenceAllele": "C",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029450",
      "geneNCBI_id": 84662,
      "geneSymbol": "GLIS2",
      "hgvs": [
        "ENST00000262366.7:c.15C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262366.3:p.Asp5="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250997"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 72,
          "referenceAllele": "C",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029450",
      "geneNCBI_id": 84662,
      "geneSymbol": "GLIS2",
      "hgvs": [
        "ENST00000433375.1:c.15C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395547.1:p.Asp5="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292508"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 322,
          "endIntronDirection": "-",
          "endIntronOffset": 520,
          "referenceAllele": "G",
          "start": 322,
          "startIntronDirection": "-",
          "startIntronOffset": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029679",
      "geneNCBI_id": 51025,
      "geneSymbol": "PAM16",
      "hgvs": [
        "ENST00000577031.5:c.292-521G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459113.1:n.292-521G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384698"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830084238",
      "coordinates": [
        {
          "allele": "T",
          "end": 72,
          "referenceAllele": "C",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029450",
      "geneNCBI_id": 84662,
      "geneSymbol": "GLIS2",
      "hgvs": [
        "NM_032575.2:c.15C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115964.2:p.Asp5="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 155,
          "referenceAllele": "C",
          "start": 154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029450",
      "geneNCBI_id": 84662,
      "geneSymbol": "GLIS2",
      "hgvs": [
        "XM_005255641.3:c.15C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255698.1:p.Asp5="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 136,
          "referenceAllele": "C",
          "start": 135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029450",
      "geneNCBI_id": 84662,
      "geneSymbol": "GLIS2",
      "hgvs": [
        "XM_005255642.2:c.15C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255699.1:p.Asp5="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061010"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827025055",
      "coordinates": [
        {
          "allele": "T",
          "end": 836,
          "referenceAllele": "C",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029450",
      "geneNCBI_id": 84662,
      "geneSymbol": "GLIS2",
      "hgvs": [
        "NM_001318918.1:c.15C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305847.1:p.Asp5="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 137,
          "referenceAllele": "C",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029450",
      "geneNCBI_id": 84662,
      "geneSymbol": "GLIS2",
      "hgvs": [
        "XM_005255641.4:c.15C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255698.1:p.Asp5="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534310"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830084238",
      "coordinates": [
        {
          "allele": "T",
          "end": 269,
          "referenceAllele": "C",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029450",
      "geneNCBI_id": 84662,
      "geneSymbol": "GLIS2",
      "hgvs": [
        "NM_032575.3:c.15C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_115964.2:p.Asp5="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699144",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000433375.2:c.15C>T"
          },
          "RefSeq": {
            "hgvs": "NM_032575.3:c.15C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395547.1:p.Asp5="
          },
          "RefSeq": {
            "hgvs": "NP_115964.2:p.Asp5="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827025055",
      "coordinates": [
        {
          "allele": "T",
          "end": 836,
          "referenceAllele": "C",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029450",
      "geneNCBI_id": 84662,
      "geneSymbol": "GLIS2",
      "hgvs": [
        "NM_001318918.2:c.15C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305847.1:p.Asp5="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717628"
    }
  ],
  "type": "nucleotide"
}