{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA164689486",
  "communityStandardTitle": [
    "NM_006348.5(COG5):c.1313+167T>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1226357[alleleid]",
        "alleleId": 1226357,
        "preferredName": "NM_006348.5(COG5):c.1313+167T>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1237233",
        "RCV": [
          "RCV001635725"
        ],
        "variationId": 1237233
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.106938420A>C?assembly=hg19",
        "id": "chr7:g.106938420A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.107297975A>C?assembly=hg38",
        "id": "chr7:g.107297975A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3815148",
        "rs": 3815148
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-106938420-A-C?dataset=gnomad_r2_1",
        "id": "7-106938420-A-C",
        "variant": "7:106938420 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-107297975-A-C?dataset=gnomad_r3",
        "id": "7-107297975-A-C",
        "variant": "7:107297975 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-107297975-A-C?dataset=gnomad_r4",
        "id": "7-107297975-A-C",
        "variant": "7:107297975 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 107297975,
          "referenceAllele": "A",
          "start": 107297974
        }
      ],
      "hgvs": [
        "NC_000007.14:g.107297975A>C",
        "CM000669.2:g.107297975A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 106938420,
          "referenceAllele": "A",
          "start": 106938419
        }
      ],
      "hgvs": [
        "NC_000007.13:g.106938420A>C",
        "CM000669.1:g.106938420A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 106725656,
          "referenceAllele": "A",
          "start": 106725655
        }
      ],
      "hgvs": [
        "NC_000007.12:g.106725656A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 271540,
          "referenceAllele": "T",
          "start": 271539
        }
      ],
      "hgvs": [
        "NG_028095.1:g.271540T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004071"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 271540,
          "referenceAllele": "T",
          "start": 271539
        }
      ],
      "hgvs": [
        "NG_028095.2:g.271540T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673758"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1337,
          "endIntronDirection": "+",
          "endIntronOffset": 167,
          "referenceAllele": "T",
          "start": 1337,
          "startIntronDirection": "+",
          "startIntronOffset": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "ENST00000297135.9:c.1313+167T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297135.4:n.1313+167T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744495",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297135.9:c.1313+167T>G"
          },
          "RefSeq": {
            "hgvs": "NM_006348.5:c.1313+167T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297135.4:n.1313+167T>G"
          },
          "RefSeq": {
            "hgvs": "NP_006339.4:n.1313+167T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1457,
          "endIntronDirection": "+",
          "endIntronOffset": 167,
          "referenceAllele": "T",
          "start": 1457,
          "startIntronDirection": "+",
          "startIntronOffset": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "ENST00000347053.8:c.1313+167T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334703.3:n.1313+167T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748326"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1678,
          "endIntronDirection": "+",
          "endIntronOffset": 167,
          "referenceAllele": "T",
          "start": 1678,
          "startIntronDirection": "+",
          "startIntronOffset": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "ENST00000393603.7:c.1313+167T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377228.3:n.1313+167T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1931,
          "endIntronDirection": "+",
          "endIntronOffset": 167,
          "referenceAllele": "T",
          "start": 1931,
          "startIntronDirection": "+",
          "startIntronOffset": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "ENST00000297135.7:c.1406+167T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297135.3:n.1406+167T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254424"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1457,
          "endIntronDirection": "+",
          "endIntronOffset": 167,
          "referenceAllele": "T",
          "start": 1457,
          "startIntronDirection": "+",
          "startIntronOffset": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "ENST00000347053.7:c.1406+167T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334703.2:n.1406+167T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262325"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1678,
          "endIntronDirection": "+",
          "endIntronOffset": 167,
          "referenceAllele": "T",
          "start": 1678,
          "startIntronDirection": "+",
          "startIntronOffset": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "ENST00000393603.6:c.1406+167T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377228.2:n.1406+167T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275718"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1931,
          "endIntronDirection": "+",
          "endIntronOffset": 167,
          "referenceAllele": "T",
          "start": 1931,
          "startIntronDirection": "+",
          "startIntronOffset": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "NM_001161520.1:c.1406+167T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001154992.1:n.1406+167T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014248"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1931,
          "endIntronDirection": "+",
          "endIntronOffset": 167,
          "referenceAllele": "T",
          "start": 1931,
          "startIntronDirection": "+",
          "startIntronOffset": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "NM_006348.3:c.1406+167T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006339.3:n.1406+167T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031366"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1931,
          "endIntronDirection": "+",
          "endIntronOffset": 167,
          "referenceAllele": "T",
          "start": 1931,
          "startIntronDirection": "+",
          "startIntronOffset": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "NM_181733.2:c.1406+167T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_859422.2:n.1406+167T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043850"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1626,
          "endIntronDirection": "+",
          "endIntronOffset": 167,
          "referenceAllele": "T",
          "start": 1626,
          "startIntronDirection": "+",
          "startIntronOffset": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "XM_011515738.1:c.1406+167T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514040.1:n.1406+167T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082949"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1778,
          "endIntronDirection": "+",
          "endIntronOffset": 167,
          "referenceAllele": "T",
          "start": 1778,
          "startIntronDirection": "+",
          "startIntronOffset": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "XM_024446634.1:c.1406+167T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302402.1:n.1406+167T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580292"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1337,
          "endIntronDirection": "+",
          "endIntronOffset": 167,
          "referenceAllele": "T",
          "start": 1337,
          "startIntronDirection": "+",
          "startIntronOffset": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "NM_001161520.2:c.1313+167T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001154992.2:n.1313+167T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678182"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1337,
          "endIntronDirection": "+",
          "endIntronOffset": 167,
          "referenceAllele": "T",
          "start": 1337,
          "startIntronDirection": "+",
          "startIntronOffset": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "NM_006348.4:c.1313+167T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006339.4:n.1313+167T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1337,
          "endIntronDirection": "+",
          "endIntronOffset": 167,
          "referenceAllele": "T",
          "start": 1337,
          "startIntronDirection": "+",
          "startIntronOffset": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "NM_181733.3:c.1313+167T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_859422.3:n.1313+167T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1337,
          "endIntronDirection": "+",
          "endIntronOffset": 167,
          "referenceAllele": "T",
          "start": 1337,
          "startIntronDirection": "+",
          "startIntronOffset": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "NM_001379511.1:c.1313+167T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366440.1:n.1313+167T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1337,
          "endIntronDirection": "+",
          "endIntronOffset": 167,
          "referenceAllele": "T",
          "start": 1337,
          "startIntronDirection": "+",
          "startIntronOffset": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "NM_001379512.1:c.1313+167T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366441.1:n.1313+167T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1337,
          "endIntronDirection": "+",
          "endIntronOffset": 167,
          "referenceAllele": "T",
          "start": 1337,
          "startIntronDirection": "+",
          "startIntronOffset": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "NM_001379513.1:c.1313+167T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366442.1:n.1313+167T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1337,
          "endIntronDirection": "+",
          "endIntronOffset": 167,
          "referenceAllele": "T",
          "start": 1337,
          "startIntronDirection": "+",
          "startIntronOffset": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "NM_001379514.1:c.1313+167T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366443.1:n.1313+167T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 767,
          "endIntronDirection": "+",
          "endIntronOffset": 167,
          "referenceAllele": "T",
          "start": 767,
          "startIntronDirection": "+",
          "startIntronOffset": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "NM_001379515.1:c.743+167T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366444.1:n.743+167T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 623,
          "endIntronDirection": "+",
          "endIntronOffset": 167,
          "referenceAllele": "T",
          "start": 623,
          "startIntronDirection": "+",
          "startIntronOffset": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "NM_001379516.1:c.599+167T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366445.1:n.599+167T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1337,
          "endIntronDirection": "+",
          "endIntronOffset": 167,
          "referenceAllele": "T",
          "start": 1337,
          "startIntronDirection": "+",
          "startIntronOffset": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "NM_006348.5:c.1313+167T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006339.4:n.1313+167T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727721",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297135.9:c.1313+167T>G"
          },
          "RefSeq": {
            "hgvs": "NM_006348.5:c.1313+167T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297135.4:n.1313+167T>G"
          },
          "RefSeq": {
            "hgvs": "NP_006339.4:n.1313+167T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1337,
          "endIntronDirection": "+",
          "endIntronOffset": 167,
          "referenceAllele": "T",
          "start": 1337,
          "startIntronDirection": "+",
          "startIntronOffset": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014857",
      "geneNCBI_id": 10466,
      "geneSymbol": "COG5",
      "hgvs": [
        "NM_181733.4:c.1313+167T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_859422.3:n.1313+167T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729734"
    }
  ],
  "type": "nucleotide"
}