{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2450696589",
  "communityStandardTitle": [
    "NM_033380.3(COL4A5):c.2746A= (p.Ser916=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104886193",
        "rs": 104886193
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 108621871,
          "referenceAllele": "A",
          "start": 108621870
        }
      ],
      "hgvs": [
        "NC_000023.11:g.108621871A=",
        "CM000685.2:g.108621871A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 107865101,
          "referenceAllele": "A",
          "start": 107865100
        }
      ],
      "hgvs": [
        "NC_000023.10:g.107865101A=",
        "CM000685.1:g.107865101A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 107751757,
          "referenceAllele": "A",
          "start": 107751756
        }
      ],
      "hgvs": [
        "NC_000023.9:g.107751757A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 186948,
          "referenceAllele": "A",
          "start": 186947
        }
      ],
      "hgvs": [
        "NG_011977.1:g.186948A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002082"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 186948,
          "referenceAllele": "A",
          "start": 186947
        }
      ],
      "hgvs": [
        "NG_011977.2:g.186948A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673573"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3034,
          "referenceAllele": "A",
          "start": 3033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000328300.11:c.2746A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331902.7:p.Ser916="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746901",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328300.11:c.2746A="
          },
          "RefSeq": {
            "hgvs": "NM_033380.3:c.2746A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000331902.7:p.Ser916="
          },
          "RefSeq": {
            "hgvs": "NP_203699.1:p.Ser916="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2948,
          "referenceAllele": "A",
          "start": 2947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000361603.7:c.2746A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354505.2:p.Ser916="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749508"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2990,
          "referenceAllele": "A",
          "start": 2989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000328300.10:c.2746A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331902.6:p.Ser916="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2990,
          "referenceAllele": "A",
          "start": 2989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000361603.6:c.2746A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354505.2:p.Ser916="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2202,
          "referenceAllele": "A",
          "start": 2201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000483338.1:n.2202A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322830"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063194290",
      "coordinates": [
        {
          "allele": "A",
          "end": 3028,
          "referenceAllele": "A",
          "start": 3027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_000495.4:c.2746A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000486.1:p.Ser916="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3028,
          "referenceAllele": "A",
          "start": 3027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_033380.2:c.2746A="
      ],
      "proteinEffect": {
        "hgvs": "NP_203699.1:p.Ser916="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039706"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3063,
          "referenceAllele": "A",
          "start": 3062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_005262070.2:c.2746A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262127.1:p.Ser916="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3063,
          "referenceAllele": "A",
          "start": 3062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_005262072.3:c.2746A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262129.1:p.Ser916="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063312"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2926,
          "referenceAllele": "A",
          "start": 2925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_006724616.2:c.2746A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724679.1:p.Ser916="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075622"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2684,
          "referenceAllele": "A",
          "start": 2683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530849.1:c.2422A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529151.1:p.Ser808="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3063,
          "referenceAllele": "A",
          "start": 3062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530850.1:c.2746A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529152.1:p.Ser916="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 431,
          "referenceAllele": "A",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530851.1:c.319A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529153.1:p.Ser107="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097894"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2776,
          "referenceAllele": "A",
          "start": 2775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530849.2:c.2761A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529151.2:p.Ser921="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2776,
          "referenceAllele": "A",
          "start": 2775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029259.2:c.2761A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016884748.1:p.Ser921="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578835"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2776,
          "referenceAllele": "A",
          "start": 2775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029260.1:c.2761A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016884749.1:p.Ser921="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578836"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2776,
          "referenceAllele": "A",
          "start": 2775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029261.1:c.2761A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016884750.1:p.Ser921="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2776,
          "referenceAllele": "A",
          "start": 2775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029262.2:c.2761A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016884751.1:p.Ser921="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1860,
          "referenceAllele": "A",
          "start": 1859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029263.2:c.1081A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016884752.1:p.Ser361="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578839"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063194290",
      "coordinates": [
        {
          "allele": "A",
          "end": 3034,
          "referenceAllele": "A",
          "start": 3033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_000495.5:c.2746A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000486.1:p.Ser916="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3034,
          "referenceAllele": "A",
          "start": 3033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_033380.3:c.2746A="
      ],
      "proteinEffect": {
        "hgvs": "NP_203699.1:p.Ser916="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699344",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328300.11:c.2746A="
          },
          "RefSeq": {
            "hgvs": "NM_033380.3:c.2746A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000331902.7:p.Ser916="
          },
          "RefSeq": {
            "hgvs": "NP_203699.1:p.Ser916="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}