{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10489254",
  "communityStandardTitle": [
    "NM_033380.3(COL4A5):c.3958C>T (p.Pro1320Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2737009",
        "active": true,
        "id": "COSM2737009"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4376657",
        "active": true,
        "id": "COSM4376657"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=442381[alleleid]",
        "alleleId": 442381,
        "preferredName": "NM_033380.3(COL4A5):c.3958C>T (p.Pro1320Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/447208",
        "RCV": [
          "RCV000516753",
          "RCV000952213",
          "RCV001391164"
        ],
        "variationId": 447208
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-107923924-C-T",
        "id": "X-107923924-C-T",
        "variant": "X:107923924 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.107923924C>T?assembly=hg19",
        "id": "chrX:g.107923924C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.108680694C>T?assembly=hg38",
        "id": "chrX:g.108680694C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/754836509",
        "rs": 754836509
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-107923924-C-T?dataset=gnomad_r2_1",
        "id": "X-107923924-C-T",
        "variant": "X:107923924 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-108680694-C-T?dataset=gnomad_r3",
        "id": "X-108680694-C-T",
        "variant": "X:108680694 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-108680694-C-T?dataset=gnomad_r4",
        "id": "X-108680694-C-T",
        "variant": "X:108680694 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 108680694,
          "referenceAllele": "C",
          "start": 108680693
        }
      ],
      "hgvs": [
        "NC_000023.11:g.108680694C>T",
        "CM000685.2:g.108680694C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 107923924,
          "referenceAllele": "C",
          "start": 107923923
        }
      ],
      "hgvs": [
        "NC_000023.10:g.107923924C>T",
        "CM000685.1:g.107923924C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 107810580,
          "referenceAllele": "C",
          "start": 107810579
        }
      ],
      "hgvs": [
        "NC_000023.9:g.107810580C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 245771,
          "referenceAllele": "C",
          "start": 245770
        }
      ],
      "hgvs": [
        "NG_011977.1:g.245771C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 245771,
          "referenceAllele": "C",
          "start": 245770
        }
      ],
      "hgvs": [
        "NG_011977.2:g.245771C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673573"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4246,
          "referenceAllele": "C",
          "start": 4245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000328300.11:c.3958C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331902.7:p.Pro1320Ser",
        "hgvsWellDefined": "ENSP00000331902.7:p.Pro1320Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746901",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328300.11:c.3958C>T"
          },
          "RefSeq": {
            "hgvs": "NM_033380.3:c.3958C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000331902.7:p.Pro1320Ser"
          },
          "RefSeq": {
            "hgvs": "NP_203699.1:p.Pro1320Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4142,
          "referenceAllele": "C",
          "start": 4141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000361603.7:c.3940C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354505.2:p.Pro1314Ser",
        "hgvsWellDefined": "ENSP00000354505.2:p.Pro1314Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 452,
          "referenceAllele": "C",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000510690.2:n.452C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4202,
          "referenceAllele": "C",
          "start": 4201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000328300.10:c.3958C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331902.6:p.Pro1320Ser",
        "hgvsWellDefined": "ENSP00000331902.6:p.Pro1320Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4184,
          "referenceAllele": "C",
          "start": 4183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000361603.6:c.3940C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354505.2:p.Pro1314Ser",
        "hgvsWellDefined": "ENSP00000354505.2:p.Pro1314Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 361,
          "referenceAllele": "C",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000489230.1:n.361C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327337"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825200091",
      "coordinates": [
        {
          "allele": "T",
          "end": 4222,
          "referenceAllele": "C",
          "start": 4221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_000495.4:c.3940C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000486.1:p.Pro1314Ser",
        "hgvsWellDefined": "NP_000486.1:p.Pro1314Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658665298",
      "coordinates": [
        {
          "allele": "T",
          "end": 4240,
          "referenceAllele": "C",
          "start": 4239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_033380.2:c.3958C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_203699.1:p.Pro1320Ser",
        "hgvsWellDefined": "NP_203699.1:p.Pro1320Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4266,
          "referenceAllele": "C",
          "start": 4265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_005262070.2:c.3949C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262127.1:p.Pro1317Ser",
        "hgvsWellDefined": "XP_005262127.1:p.Pro1317Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4138,
          "referenceAllele": "C",
          "start": 4137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_006724616.2:c.3958C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724679.1:p.Pro1320Ser",
        "hgvsWellDefined": "XP_006724679.1:p.Pro1320Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075622"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3896,
          "referenceAllele": "C",
          "start": 3895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530849.1:c.3634C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529151.1:p.Pro1212Ser",
        "hgvsWellDefined": "XP_011529151.1:p.Pro1212Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1643,
          "referenceAllele": "C",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530851.1:c.1531C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529153.1:p.Pro511Ser",
        "hgvsWellDefined": "XP_011529153.1:p.Pro511Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3988,
          "referenceAllele": "C",
          "start": 3987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530849.2:c.3973C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529151.2:p.Pro1325Ser",
        "hgvsWellDefined": "XP_011529151.2:p.Pro1325Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3979,
          "referenceAllele": "C",
          "start": 3978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029259.2:c.3964C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884748.1:p.Pro1322Ser",
        "hgvsWellDefined": "XP_016884748.1:p.Pro1322Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578835"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3970,
          "referenceAllele": "C",
          "start": 3969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029260.1:c.3955C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884749.1:p.Pro1319Ser",
        "hgvsWellDefined": "XP_016884749.1:p.Pro1319Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578836"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3072,
          "referenceAllele": "C",
          "start": 3071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029263.2:c.2293C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884752.1:p.Pro765Ser",
        "hgvsWellDefined": "XP_016884752.1:p.Pro765Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578839"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825200091",
      "coordinates": [
        {
          "allele": "T",
          "end": 4228,
          "referenceAllele": "C",
          "start": 4227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_000495.5:c.3940C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000486.1:p.Pro1314Ser",
        "hgvsWellDefined": "NP_000486.1:p.Pro1314Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658665298",
      "coordinates": [
        {
          "allele": "T",
          "end": 4246,
          "referenceAllele": "C",
          "start": 4245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_033380.3:c.3958C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_203699.1:p.Pro1320Ser",
        "hgvsWellDefined": "NP_203699.1:p.Pro1320Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699344",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328300.11:c.3958C>T"
          },
          "RefSeq": {
            "hgvs": "NM_033380.3:c.3958C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000331902.7:p.Pro1320Ser"
          },
          "RefSeq": {
            "hgvs": "NP_203699.1:p.Pro1320Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}