{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10488571",
  "communityStandardTitle": [
    "NM_033380.3(COL4A5):c.796C>G (p.Arg266Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=793867[alleleid]",
        "alleleId": 793867,
        "preferredName": "NM_033380.3(COL4A5):c.796C>G (p.Arg266Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/804592",
        "RCV": [
          "RCV000991639"
        ],
        "variationId": 804592
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-107823778-C-G",
        "id": "X-107823778-C-G",
        "variant": "X:107823778 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.107823778C>G?assembly=hg19",
        "id": "chrX:g.107823778C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.108580548C>G?assembly=hg38",
        "id": "chrX:g.108580548C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104886071",
        "rs": 104886071
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-107823778-C-G?dataset=gnomad_r2_1",
        "id": "X-107823778-C-G",
        "variant": "X:107823778 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-108580548-C-G?dataset=gnomad_r3",
        "id": "X-108580548-C-G",
        "variant": "X:108580548 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-108580548-C-G?dataset=gnomad_r4",
        "id": "X-108580548-C-G",
        "variant": "X:108580548 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 108580548,
          "referenceAllele": "C",
          "start": 108580547
        }
      ],
      "hgvs": [
        "NC_000023.11:g.108580548C>G",
        "CM000685.2:g.108580548C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 107823778,
          "referenceAllele": "C",
          "start": 107823777
        }
      ],
      "hgvs": [
        "NC_000023.10:g.107823778C>G",
        "CM000685.1:g.107823778C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 107710434,
          "referenceAllele": "C",
          "start": 107710433
        }
      ],
      "hgvs": [
        "NC_000023.9:g.107710434C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 145625,
          "referenceAllele": "C",
          "start": 145624
        }
      ],
      "hgvs": [
        "NG_011977.1:g.145625C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002082"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 145625,
          "referenceAllele": "C",
          "start": 145624
        }
      ],
      "hgvs": [
        "NG_011977.2:g.145625C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673573"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1084,
          "referenceAllele": "C",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000328300.11:c.796C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331902.7:p.Arg266Gly",
        "hgvsWellDefined": "ENSP00000331902.7:p.Arg266Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746901",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328300.11:c.796C>G"
          },
          "RefSeq": {
            "hgvs": "NM_033380.3:c.796C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000331902.7:p.Arg266Gly"
          },
          "RefSeq": {
            "hgvs": "NP_203699.1:p.Arg266Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 998,
          "referenceAllele": "C",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000361603.7:c.796C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354505.2:p.Arg266Gly",
        "hgvsWellDefined": "ENSP00000354505.2:p.Arg266Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749508"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1040,
          "referenceAllele": "C",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000328300.10:c.796C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331902.6:p.Arg266Gly",
        "hgvsWellDefined": "ENSP00000331902.6:p.Arg266Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258897"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1040,
          "referenceAllele": "C",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000361603.6:c.796C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354505.2:p.Arg266Gly",
        "hgvsWellDefined": "ENSP00000354505.2:p.Arg266Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265564"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825197835",
      "coordinates": [
        {
          "allele": "G",
          "end": 1078,
          "referenceAllele": "C",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_000495.4:c.796C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000486.1:p.Arg266Gly",
        "hgvsWellDefined": "NP_000486.1:p.Arg266Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916077303",
      "coordinates": [
        {
          "allele": "G",
          "end": 1078,
          "referenceAllele": "C",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_033380.2:c.796C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_203699.1:p.Arg266Gly",
        "hgvsWellDefined": "NP_203699.1:p.Arg266Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039706"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1113,
          "referenceAllele": "C",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_005262070.2:c.796C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262127.1:p.Arg266Gly",
        "hgvsWellDefined": "XP_005262127.1:p.Arg266Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063311"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1113,
          "referenceAllele": "C",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_005262072.3:c.796C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262129.1:p.Arg266Gly",
        "hgvsWellDefined": "XP_005262129.1:p.Arg266Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063312"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 976,
          "referenceAllele": "C",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_006724616.2:c.796C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724679.1:p.Arg266Gly",
        "hgvsWellDefined": "XP_006724679.1:p.Arg266Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075622"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530849.1:c.472C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529151.1:p.Arg158Gly",
        "hgvsWellDefined": "XP_011529151.1:p.Arg158Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097892"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1113,
          "referenceAllele": "C",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530850.1:c.796C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529152.1:p.Arg266Gly",
        "hgvsWellDefined": "XP_011529152.1:p.Arg266Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 826,
          "referenceAllele": "C",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530849.2:c.811C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529151.2:p.Arg271Gly",
        "hgvsWellDefined": "XP_011529151.2:p.Arg271Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550135"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 826,
          "referenceAllele": "C",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029259.2:c.811C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884748.1:p.Arg271Gly",
        "hgvsWellDefined": "XP_016884748.1:p.Arg271Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578835"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 826,
          "referenceAllele": "C",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029260.1:c.811C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884749.1:p.Arg271Gly",
        "hgvsWellDefined": "XP_016884749.1:p.Arg271Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578836"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 826,
          "referenceAllele": "C",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029261.1:c.811C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884750.1:p.Arg271Gly",
        "hgvsWellDefined": "XP_016884750.1:p.Arg271Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578837"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 826,
          "referenceAllele": "C",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029262.2:c.811C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884751.1:p.Arg271Gly",
        "hgvsWellDefined": "XP_016884751.1:p.Arg271Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578838"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825197835",
      "coordinates": [
        {
          "allele": "G",
          "end": 1084,
          "referenceAllele": "C",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_000495.5:c.796C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000486.1:p.Arg266Gly",
        "hgvsWellDefined": "NP_000486.1:p.Arg266Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916077303",
      "coordinates": [
        {
          "allele": "G",
          "end": 1084,
          "referenceAllele": "C",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_033380.3:c.796C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_203699.1:p.Arg266Gly",
        "hgvsWellDefined": "NP_203699.1:p.Arg266Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699344",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328300.11:c.796C>G"
          },
          "RefSeq": {
            "hgvs": "NM_033380.3:c.796C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000331902.7:p.Arg266Gly"
          },
          "RefSeq": {
            "hgvs": "NP_203699.1:p.Arg266Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}