{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA393217660",
  "communityStandardTitle": [
    "NM_015554.3(GLCE):c.114G>T (p.Gln38His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2269862[alleleid]",
        "alleleId": 2269862,
        "preferredName": "NM_015554.3(GLCE):c.114G>T (p.Gln38His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2277451",
        "RCV": [
          "RCV004127090"
        ],
        "variationId": 2277451
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.69548259G>T?assembly=hg19",
        "id": "chr15:g.69548259G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.69255920G>T?assembly=hg38",
        "id": "chr15:g.69255920G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1702784096",
        "rs": 1702784096
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 69255920,
          "referenceAllele": "G",
          "start": 69255919
        }
      ],
      "hgvs": [
        "NC_000015.10:g.69255920G>T",
        "CM000677.2:g.69255920G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 69548259,
          "referenceAllele": "G",
          "start": 69548258
        }
      ],
      "hgvs": [
        "NC_000015.9:g.69548259G>T",
        "CM000677.1:g.69548259G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 67335313,
          "referenceAllele": "G",
          "start": 67335312
        }
      ],
      "hgvs": [
        "NC_000015.8:g.67335313G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 341,
          "referenceAllele": "G",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017855",
      "geneNCBI_id": 26035,
      "geneSymbol": "GLCE",
      "hgvs": [
        "ENST00000261858.7:c.114G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261858.2:p.Gln38His",
        "hgvsWellDefined": "ENSP00000261858.2:p.Gln38His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742226",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261858.7:c.114G>T"
          },
          "RefSeq": {
            "hgvs": "NM_015554.3:c.114G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261858.2:p.Gln38His"
          },
          "RefSeq": {
            "hgvs": "NP_056369.1:p.Gln38His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 342,
          "referenceAllele": "G",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017855",
      "geneNCBI_id": 26035,
      "geneSymbol": "GLCE",
      "hgvs": [
        "ENST00000261858.6:c.114G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261858.2:p.Gln38His",
        "hgvsWellDefined": "ENSP00000261858.2:p.Gln38His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 127,
          "referenceAllele": "G",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017855",
      "geneNCBI_id": 26035,
      "geneSymbol": "GLCE",
      "hgvs": [
        "ENST00000559420.2:c.-79G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454092.1:n.-79G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374567"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580398400",
      "coordinates": [
        {
          "allele": "T",
          "end": 342,
          "referenceAllele": "G",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017855",
      "geneNCBI_id": 26035,
      "geneSymbol": "GLCE",
      "hgvs": [
        "NM_015554.1:c.114G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056369.1:p.Gln38His",
        "hgvsWellDefined": "NP_056369.1:p.Gln38His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 506,
          "referenceAllele": "G",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017855",
      "geneNCBI_id": 26035,
      "geneSymbol": "GLCE",
      "hgvs": [
        "XM_005254298.2:c.114G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254355.1:p.Gln38His",
        "hgvsWellDefined": "XP_005254355.1:p.Gln38His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060586"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 341,
          "referenceAllele": "G",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017855",
      "geneNCBI_id": 26035,
      "geneSymbol": "GLCE",
      "hgvs": [
        "XM_005254299.3:c.114G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254356.1:p.Gln38His",
        "hgvsWellDefined": "XP_005254356.1:p.Gln38His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060587"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827240458",
      "coordinates": [
        {
          "allele": "T",
          "end": 379,
          "referenceAllele": "G",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017855",
      "geneNCBI_id": 26035,
      "geneSymbol": "GLCE",
      "hgvs": [
        "NM_001324091.1:c.114G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311020.1:p.Gln38His",
        "hgvsWellDefined": "NP_001311020.1:p.Gln38His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 252,
          "endIntronDirection": "-",
          "endIntronOffset": 5166,
          "referenceAllele": "G",
          "start": 252,
          "startIntronDirection": "-",
          "startIntronOffset": 5167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017855",
      "geneNCBI_id": 26035,
      "geneSymbol": "GLCE",
      "hgvs": [
        "NM_001324092.1:c.-185-5167G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311021.1:n.-185-5167G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515718"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827240479",
      "coordinates": [
        {
          "allele": "T",
          "end": 506,
          "referenceAllele": "G",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017855",
      "geneNCBI_id": 26035,
      "geneSymbol": "GLCE",
      "hgvs": [
        "NM_001324093.1:c.114G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311022.1:p.Gln38His",
        "hgvsWellDefined": "NP_001311022.1:p.Gln38His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515719"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827240500",
      "coordinates": [
        {
          "allele": "T",
          "end": 1506,
          "referenceAllele": "G",
          "start": 1505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017855",
      "geneNCBI_id": 26035,
      "geneSymbol": "GLCE",
      "hgvs": [
        "NM_001324094.1:c.114G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311023.1:p.Gln38His",
        "hgvsWellDefined": "NP_001311023.1:p.Gln38His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515720"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580398400",
      "coordinates": [
        {
          "allele": "T",
          "end": 379,
          "referenceAllele": "G",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017855",
      "geneNCBI_id": 26035,
      "geneSymbol": "GLCE",
      "hgvs": [
        "NM_015554.2:c.114G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056369.1:p.Gln38His",
        "hgvsWellDefined": "NP_056369.1:p.Gln38His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525695"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 511,
          "referenceAllele": "G",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017855",
      "geneNCBI_id": 26035,
      "geneSymbol": "GLCE",
      "hgvs": [
        "XM_005254298.3:c.114G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254355.1:p.Gln38His",
        "hgvsWellDefined": "XP_005254355.1:p.Gln38His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 363,
          "referenceAllele": "G",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017855",
      "geneNCBI_id": 26035,
      "geneSymbol": "GLCE",
      "hgvs": [
        "XM_017022073.1:c.132G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877562.1:p.Gln44His",
        "hgvsWellDefined": "XP_016877562.1:p.Gln44His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 352,
          "referenceAllele": "G",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017855",
      "geneNCBI_id": 26035,
      "geneSymbol": "GLCE",
      "hgvs": [
        "XM_017022074.2:c.132G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877563.1:p.Gln44His",
        "hgvsWellDefined": "XP_016877563.1:p.Gln44His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580398400",
      "coordinates": [
        {
          "allele": "T",
          "end": 341,
          "referenceAllele": "G",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017855",
      "geneNCBI_id": 26035,
      "geneSymbol": "GLCE",
      "hgvs": [
        "NM_015554.3:c.114G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056369.1:p.Gln38His",
        "hgvsWellDefined": "NP_056369.1:p.Gln38His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668805",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261858.7:c.114G>T"
          },
          "RefSeq": {
            "hgvs": "NM_015554.3:c.114G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261858.2:p.Gln38His"
          },
          "RefSeq": {
            "hgvs": "NP_056369.1:p.Gln38His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 214,
          "endIntronDirection": "-",
          "endIntronOffset": 5166,
          "referenceAllele": "G",
          "start": 214,
          "startIntronDirection": "-",
          "startIntronOffset": 5167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017855",
      "geneNCBI_id": 26035,
      "geneSymbol": "GLCE",
      "hgvs": [
        "NM_001324092.2:c.-185-5167G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311021.1:n.-185-5167G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686207"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827240479",
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "G",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017855",
      "geneNCBI_id": 26035,
      "geneSymbol": "GLCE",
      "hgvs": [
        "NM_001324093.2:c.114G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311022.1:p.Gln38His",
        "hgvsWellDefined": "NP_001311022.1:p.Gln38His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686208"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827240500",
      "coordinates": [
        {
          "allele": "T",
          "end": 1468,
          "referenceAllele": "G",
          "start": 1467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017855",
      "geneNCBI_id": 26035,
      "geneSymbol": "GLCE",
      "hgvs": [
        "NM_001324094.2:c.114G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311023.1:p.Gln38His",
        "hgvsWellDefined": "NP_001311023.1:p.Gln38His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827240458",
      "coordinates": [
        {
          "allele": "T",
          "end": 341,
          "referenceAllele": "G",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017855",
      "geneNCBI_id": 26035,
      "geneSymbol": "GLCE",
      "hgvs": [
        "NM_001324091.2:c.114G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311020.1:p.Gln38His",
        "hgvsWellDefined": "NP_001311020.1:p.Gln38His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718408"
    }
  ],
  "type": "nucleotide"
}