{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413855722",
  "communityStandardTitle": [
    "NM_033380.3(COL4A5):c.4670C>T (p.Pro1557Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1866970[alleleid]",
        "alleleId": 1866970,
        "preferredName": "NM_033380.3(COL4A5):c.4670C>T (p.Pro1557Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1809966",
        "RCV": [
          "RCV002508522"
        ],
        "variationId": 1809966
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.107936119C>T?assembly=hg19",
        "id": "chrX:g.107936119C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.108692889C>T?assembly=hg38",
        "id": "chrX:g.108692889C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1249698475",
        "rs": 1249698475
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-108692889-C-T?dataset=gnomad_r3",
        "id": "X-108692889-C-T",
        "variant": "X:108692889 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-108692889-C-T?dataset=gnomad_r4",
        "id": "X-108692889-C-T",
        "variant": "X:108692889 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 108692889,
          "referenceAllele": "C",
          "start": 108692888
        }
      ],
      "hgvs": [
        "NC_000023.11:g.108692889C>T",
        "CM000685.2:g.108692889C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 107936119,
          "referenceAllele": "C",
          "start": 107936118
        }
      ],
      "hgvs": [
        "NC_000023.10:g.107936119C>T",
        "CM000685.1:g.107936119C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 107822775,
          "referenceAllele": "C",
          "start": 107822774
        }
      ],
      "hgvs": [
        "NC_000023.9:g.107822775C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 257966,
          "referenceAllele": "C",
          "start": 257965
        }
      ],
      "hgvs": [
        "NG_011977.1:g.257966C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 257966,
          "referenceAllele": "C",
          "start": 257965
        }
      ],
      "hgvs": [
        "NG_011977.2:g.257966C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673573"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4958,
          "referenceAllele": "C",
          "start": 4957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000328300.11:c.4670C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331902.7:p.Pro1557Leu",
        "hgvsWellDefined": "ENSP00000331902.7:p.Pro1557Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746901",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328300.11:c.4670C>T"
          },
          "RefSeq": {
            "hgvs": "NM_033380.3:c.4670C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000331902.7:p.Pro1557Leu"
          },
          "RefSeq": {
            "hgvs": "NP_203699.1:p.Pro1557Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4854,
          "referenceAllele": "C",
          "start": 4853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000361603.7:c.4652C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354505.2:p.Pro1551Leu",
        "hgvsWellDefined": "ENSP00000354505.2:p.Pro1551Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1164,
          "referenceAllele": "C",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000510690.2:n.1164C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4914,
          "referenceAllele": "C",
          "start": 4913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000328300.10:c.4670C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331902.6:p.Pro1557Leu",
        "hgvsWellDefined": "ENSP00000331902.6:p.Pro1557Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4896,
          "referenceAllele": "C",
          "start": 4895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000361603.6:c.4652C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354505.2:p.Pro1551Leu",
        "hgvsWellDefined": "ENSP00000354505.2:p.Pro1551Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 68,
          "referenceAllele": "C",
          "start": 67
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000504541.1:c.68C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424845.1:p.Pro23Leu",
        "hgvsWellDefined": "ENSP00000424845.1:p.Pro23Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336572"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "endIntronDirection": "-",
          "endIntronOffset": 3407,
          "referenceAllele": "C",
          "start": 324,
          "startIntronDirection": "-",
          "startIntronOffset": 3408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000515658.1:c.325-3408C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344832"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825200532",
      "coordinates": [
        {
          "allele": "T",
          "end": 4934,
          "referenceAllele": "C",
          "start": 4933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_000495.4:c.4652C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000486.1:p.Pro1551Leu",
        "hgvsWellDefined": "NP_000486.1:p.Pro1551Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580489016",
      "coordinates": [
        {
          "allele": "T",
          "end": 4952,
          "referenceAllele": "C",
          "start": 4951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_033380.2:c.4670C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_203699.1:p.Pro1557Leu",
        "hgvsWellDefined": "NP_203699.1:p.Pro1557Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4978,
          "referenceAllele": "C",
          "start": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_005262070.2:c.4661C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262127.1:p.Pro1554Leu",
        "hgvsWellDefined": "XP_005262127.1:p.Pro1554Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4850,
          "referenceAllele": "C",
          "start": 4849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_006724616.2:c.4670C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724679.1:p.Pro1557Leu",
        "hgvsWellDefined": "XP_006724679.1:p.Pro1557Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075622"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4608,
          "referenceAllele": "C",
          "start": 4607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530849.1:c.4346C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529151.1:p.Pro1449Leu",
        "hgvsWellDefined": "XP_011529151.1:p.Pro1449Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2355,
          "referenceAllele": "C",
          "start": 2354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530851.1:c.2243C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529153.1:p.Pro748Leu",
        "hgvsWellDefined": "XP_011529153.1:p.Pro748Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4700,
          "referenceAllele": "C",
          "start": 4699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530849.2:c.4685C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529151.2:p.Pro1562Leu",
        "hgvsWellDefined": "XP_011529151.2:p.Pro1562Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4691,
          "referenceAllele": "C",
          "start": 4690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029259.2:c.4676C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884748.1:p.Pro1559Leu",
        "hgvsWellDefined": "XP_016884748.1:p.Pro1559Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578835"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4682,
          "referenceAllele": "C",
          "start": 4681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029260.1:c.4667C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884749.1:p.Pro1556Leu",
        "hgvsWellDefined": "XP_016884749.1:p.Pro1556Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578836"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3784,
          "referenceAllele": "C",
          "start": 3783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029263.2:c.3005C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884752.1:p.Pro1002Leu",
        "hgvsWellDefined": "XP_016884752.1:p.Pro1002Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578839"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825200532",
      "coordinates": [
        {
          "allele": "T",
          "end": 4940,
          "referenceAllele": "C",
          "start": 4939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_000495.5:c.4652C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000486.1:p.Pro1551Leu",
        "hgvsWellDefined": "NP_000486.1:p.Pro1551Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580489016",
      "coordinates": [
        {
          "allele": "T",
          "end": 4958,
          "referenceAllele": "C",
          "start": 4957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_033380.3:c.4670C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_203699.1:p.Pro1557Leu",
        "hgvsWellDefined": "NP_203699.1:p.Pro1557Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699344",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328300.11:c.4670C>T"
          },
          "RefSeq": {
            "hgvs": "NM_033380.3:c.4670C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000331902.7:p.Pro1557Leu"
          },
          "RefSeq": {
            "hgvs": "NP_203699.1:p.Pro1557Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}