{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342587",
  "communityStandardTitle": [
    "NM_033380.3(COL4A5):c.4709G>C (p.Cys1570Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=36102[alleleid]",
        "alleleId": 36102,
        "preferredName": "NM_033380.3(COL4A5):c.4709G>C (p.Cys1570Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/24761",
        "RCV": [
          "RCV000021640",
          "RCV001047411"
        ],
        "variationId": 24761
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.107938039G>C?assembly=hg19",
        "id": "chrX:g.107938039G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.108694809G>C?assembly=hg38",
        "id": "chrX:g.108694809G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104886287",
        "rs": 104886287
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 108694809,
          "referenceAllele": "G",
          "start": 108694808
        }
      ],
      "hgvs": [
        "NC_000023.11:g.108694809G>C",
        "CM000685.2:g.108694809G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 107938039,
          "referenceAllele": "G",
          "start": 107938038
        }
      ],
      "hgvs": [
        "NC_000023.10:g.107938039G>C",
        "CM000685.1:g.107938039G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 107824695,
          "referenceAllele": "G",
          "start": 107824694
        }
      ],
      "hgvs": [
        "NC_000023.9:g.107824695G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 259886,
          "referenceAllele": "G",
          "start": 259885
        }
      ],
      "hgvs": [
        "NG_011977.1:g.259886G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002082"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 259886,
          "referenceAllele": "G",
          "start": 259885
        }
      ],
      "hgvs": [
        "NG_011977.2:g.259886G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673573"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4997,
          "referenceAllele": "G",
          "start": 4996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000328300.11:c.4709G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331902.7:p.Cys1570Ser",
        "hgvsWellDefined": "ENSP00000331902.7:p.Cys1570Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746901",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328300.11:c.4709G>C"
          },
          "RefSeq": {
            "hgvs": "NM_033380.3:c.4709G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000331902.7:p.Cys1570Ser"
          },
          "RefSeq": {
            "hgvs": "NP_203699.1:p.Cys1570Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4893,
          "referenceAllele": "G",
          "start": 4892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000361603.7:c.4691G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354505.2:p.Cys1564Ser",
        "hgvsWellDefined": "ENSP00000354505.2:p.Cys1564Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749508"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1203,
          "referenceAllele": "G",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000510690.2:n.1203G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758216"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1195,
          "referenceAllele": "G",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000644079.1:n.1195G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767623"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4953,
          "referenceAllele": "G",
          "start": 4952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000328300.10:c.4709G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331902.6:p.Cys1570Ser",
        "hgvsWellDefined": "ENSP00000331902.6:p.Cys1570Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258897"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4935,
          "referenceAllele": "G",
          "start": 4934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000361603.6:c.4691G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354505.2:p.Cys1564Ser",
        "hgvsWellDefined": "ENSP00000354505.2:p.Cys1564Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265564"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 107,
          "referenceAllele": "G",
          "start": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000504541.1:c.107G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424845.1:p.Cys36Ser",
        "hgvsWellDefined": "ENSP00000424845.1:p.Cys36Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336572"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 324,
          "endIntronDirection": "-",
          "endIntronOffset": 1487,
          "referenceAllele": "G",
          "start": 324,
          "startIntronDirection": "-",
          "startIntronOffset": 1488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000515658.1:c.325-1488G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344832"
    },
    {
      "@id": "http://reg.genome.network/allele/PA095255",
      "coordinates": [
        {
          "allele": "C",
          "end": 4973,
          "referenceAllele": "G",
          "start": 4972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_000495.4:c.4691G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000486.1:p.Cys1564Ser",
        "hgvsWellDefined": "NP_000486.1:p.Cys1564Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA342588",
      "coordinates": [
        {
          "allele": "C",
          "end": 4991,
          "referenceAllele": "G",
          "start": 4990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_033380.2:c.4709G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_203699.1:p.Cys1570Ser",
        "hgvsWellDefined": "NP_203699.1:p.Cys1570Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039706"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5017,
          "referenceAllele": "G",
          "start": 5016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_005262070.2:c.4700G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262127.1:p.Cys1567Ser",
        "hgvsWellDefined": "XP_005262127.1:p.Cys1567Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063311"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4889,
          "referenceAllele": "G",
          "start": 4888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_006724616.2:c.4709G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724679.1:p.Cys1570Ser",
        "hgvsWellDefined": "XP_006724679.1:p.Cys1570Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075622"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4647,
          "referenceAllele": "G",
          "start": 4646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530849.1:c.4385G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529151.1:p.Cys1462Ser",
        "hgvsWellDefined": "XP_011529151.1:p.Cys1462Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2394,
          "referenceAllele": "G",
          "start": 2393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530851.1:c.2282G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529153.1:p.Cys761Ser",
        "hgvsWellDefined": "XP_011529153.1:p.Cys761Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097894"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4739,
          "referenceAllele": "G",
          "start": 4738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530849.2:c.4724G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529151.2:p.Cys1575Ser",
        "hgvsWellDefined": "XP_011529151.2:p.Cys1575Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550135"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4730,
          "referenceAllele": "G",
          "start": 4729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029259.2:c.4715G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884748.1:p.Cys1572Ser",
        "hgvsWellDefined": "XP_016884748.1:p.Cys1572Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578835"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4721,
          "referenceAllele": "G",
          "start": 4720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029260.1:c.4706G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884749.1:p.Cys1569Ser",
        "hgvsWellDefined": "XP_016884749.1:p.Cys1569Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578836"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3823,
          "referenceAllele": "G",
          "start": 3822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029263.2:c.3044G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884752.1:p.Cys1015Ser",
        "hgvsWellDefined": "XP_016884752.1:p.Cys1015Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578839"
    },
    {
      "@id": "http://reg.genome.network/allele/PA095255",
      "coordinates": [
        {
          "allele": "C",
          "end": 4979,
          "referenceAllele": "G",
          "start": 4978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_000495.5:c.4691G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000486.1:p.Cys1564Ser",
        "hgvsWellDefined": "NP_000486.1:p.Cys1564Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA342588",
      "coordinates": [
        {
          "allele": "C",
          "end": 4997,
          "referenceAllele": "G",
          "start": 4996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_033380.3:c.4709G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_203699.1:p.Cys1570Ser",
        "hgvsWellDefined": "NP_203699.1:p.Cys1570Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699344",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328300.11:c.4709G>C"
          },
          "RefSeq": {
            "hgvs": "NM_033380.3:c.4709G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000331902.7:p.Cys1570Ser"
          },
          "RefSeq": {
            "hgvs": "NP_203699.1:p.Cys1570Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}