{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2580071625",
  "communityStandardTitle": [
    "NM_000824.5(GLRB):c.1198-5C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2085605[alleleid]",
        "alleleId": 2085605,
        "preferredName": "NM_000824.5(GLRB):c.1198-5C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2030258",
        "RCV": [
          "RCV002894359"
        ],
        "variationId": 2030258
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2530169572",
        "rs": 2530169572
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 157170427,
          "referenceAllele": "C",
          "start": 157170426
        }
      ],
      "hgvs": [
        "NC_000004.12:g.157170427C>T",
        "CM000666.2:g.157170427C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 158091579,
          "referenceAllele": "C",
          "start": 158091578
        }
      ],
      "hgvs": [
        "NC_000004.11:g.158091579C>T",
        "CM000666.1:g.158091579C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 158311029,
          "referenceAllele": "C",
          "start": 158311028
        }
      ],
      "hgvs": [
        "NC_000004.10:g.158311029C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 99303,
          "referenceAllele": "C",
          "start": 99302
        }
      ],
      "hgvs": [
        "NG_015823.1:g.99303C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002855"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1374,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 1374,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004329",
      "geneNCBI_id": 2743,
      "geneSymbol": "GLRB",
      "hgvs": [
        "ENST00000264428.9:c.1198-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264428.4:n.1198-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742675",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264428.9:c.1198-5C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000824.5:c.1198-5C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264428.4:n.1198-5C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000815.1:n.1198-5C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1467,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 1467,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004329",
      "geneNCBI_id": 2743,
      "geneSymbol": "GLRB",
      "hgvs": [
        "ENST00000264428.8:c.1198-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264428.4:n.1198-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251502"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1382,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 1382,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004329",
      "geneNCBI_id": 2743,
      "geneSymbol": "GLRB",
      "hgvs": [
        "ENST00000509282.1:c.1198-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427186.1:n.1198-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340079"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 254,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 254,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004329",
      "geneNCBI_id": 2743,
      "geneSymbol": "GLRB",
      "hgvs": [
        "ENST00000512619.5:c.123-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425433.1:n.123-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342580"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1106,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 1106,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004329",
      "geneNCBI_id": 2743,
      "geneSymbol": "GLRB",
      "hgvs": [
        "ENST00000541722.5:c.905-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441873.1:n.905-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1399,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 1399,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004329",
      "geneNCBI_id": 2743,
      "geneSymbol": "GLRB",
      "hgvs": [
        "NM_000824.4:c.1198-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000815.1:n.1198-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006853"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1382,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 1382,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004329",
      "geneNCBI_id": 2743,
      "geneSymbol": "GLRB",
      "hgvs": [
        "NM_001166060.1:c.1198-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159532.1:n.1198-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1106,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 1106,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004329",
      "geneNCBI_id": 2743,
      "geneSymbol": "GLRB",
      "hgvs": [
        "NM_001166061.1:c.905-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159533.1:n.905-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1381,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 1381,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004329",
      "geneNCBI_id": 2743,
      "geneSymbol": "GLRB",
      "hgvs": [
        "XM_011531876.1:c.904-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530178.1:n.904-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1193,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 1193,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004329",
      "geneNCBI_id": 2743,
      "geneSymbol": "GLRB",
      "hgvs": [
        "XM_017008034.1:c.904-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863523.1:n.904-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1058,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 1058,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004329",
      "geneNCBI_id": 2743,
      "geneSymbol": "GLRB",
      "hgvs": [
        "XM_017008035.2:c.905-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863524.1:n.905-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562646"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2649,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 2649,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004329",
      "geneNCBI_id": 2743,
      "geneSymbol": "GLRB",
      "hgvs": [
        "XR_001741207.2:n.2650-5C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591244"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3899,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 3899,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004329",
      "geneNCBI_id": 2743,
      "geneSymbol": "GLRB",
      "hgvs": [
        "XR_002959723.1:n.3900-5C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605655"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1374,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 1374,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004329",
      "geneNCBI_id": 2743,
      "geneSymbol": "GLRB",
      "hgvs": [
        "NM_000824.5:c.1198-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000815.1:n.1198-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662603",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264428.9:c.1198-5C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000824.5:c.1198-5C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264428.4:n.1198-5C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000815.1:n.1198-5C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1382,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 1382,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004329",
      "geneNCBI_id": 2743,
      "geneSymbol": "GLRB",
      "hgvs": [
        "NM_001166060.2:c.1198-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159532.1:n.1198-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713164"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1081,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "C",
          "start": 1081,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004329",
      "geneNCBI_id": 2743,
      "geneSymbol": "GLRB",
      "hgvs": [
        "NM_001166061.2:c.905-5C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159533.1:n.905-5C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713165"
    }
  ],
  "type": "nucleotide"
}