{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413848463",
  "communityStandardTitle": [
    "NM_033380.3(COL4A5):c.3640G>A (p.Gly1214Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1056719[alleleid]",
        "alleleId": 1056719,
        "preferredName": "NM_033380.3(COL4A5):c.3640G>A (p.Gly1214Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1067445",
        "RCV": [
          "RCV001378715"
        ],
        "variationId": 1067445
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.107911584G>A?assembly=hg19",
        "id": "chrX:g.107911584G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.108668354G>A?assembly=hg38",
        "id": "chrX:g.108668354G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2147959120",
        "rs": 2147959120
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 108668354,
          "referenceAllele": "G",
          "start": 108668353
        }
      ],
      "hgvs": [
        "NC_000023.11:g.108668354G>A",
        "CM000685.2:g.108668354G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 107911584,
          "referenceAllele": "G",
          "start": 107911583
        }
      ],
      "hgvs": [
        "NC_000023.10:g.107911584G>A",
        "CM000685.1:g.107911584G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 107798240,
          "referenceAllele": "G",
          "start": 107798239
        }
      ],
      "hgvs": [
        "NC_000023.9:g.107798240G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 233431,
          "referenceAllele": "G",
          "start": 233430
        }
      ],
      "hgvs": [
        "NG_011977.1:g.233431G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002082"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 233431,
          "referenceAllele": "G",
          "start": 233430
        }
      ],
      "hgvs": [
        "NG_011977.2:g.233431G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673573"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3928,
          "referenceAllele": "G",
          "start": 3927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000328300.11:c.3640G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331902.7:p.Gly1214Arg",
        "hgvsWellDefined": "ENSP00000331902.7:p.Gly1214Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746901",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328300.11:c.3640G>A"
          },
          "RefSeq": {
            "hgvs": "NM_033380.3:c.3640G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000331902.7:p.Gly1214Arg"
          },
          "RefSeq": {
            "hgvs": "NP_203699.1:p.Gly1214Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3842,
          "referenceAllele": "G",
          "start": 3841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000361603.7:c.3640G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354505.2:p.Gly1214Arg",
        "hgvsWellDefined": "ENSP00000354505.2:p.Gly1214Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749508"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3884,
          "referenceAllele": "G",
          "start": 3883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000328300.10:c.3640G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331902.6:p.Gly1214Arg",
        "hgvsWellDefined": "ENSP00000331902.6:p.Gly1214Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3884,
          "referenceAllele": "G",
          "start": 3883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000361603.6:c.3640G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354505.2:p.Gly1214Arg",
        "hgvsWellDefined": "ENSP00000354505.2:p.Gly1214Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265564"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825199878",
      "coordinates": [
        {
          "allele": "A",
          "end": 3922,
          "referenceAllele": "G",
          "start": 3921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_000495.4:c.3640G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000486.1:p.Gly1214Arg",
        "hgvsWellDefined": "NP_000486.1:p.Gly1214Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499294918",
      "coordinates": [
        {
          "allele": "A",
          "end": 3922,
          "referenceAllele": "G",
          "start": 3921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_033380.2:c.3640G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_203699.1:p.Gly1214Arg",
        "hgvsWellDefined": "NP_203699.1:p.Gly1214Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039706"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3957,
          "referenceAllele": "G",
          "start": 3956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_005262070.2:c.3640G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262127.1:p.Gly1214Arg",
        "hgvsWellDefined": "XP_005262127.1:p.Gly1214Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3820,
          "referenceAllele": "G",
          "start": 3819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_006724616.2:c.3640G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724679.1:p.Gly1214Arg",
        "hgvsWellDefined": "XP_006724679.1:p.Gly1214Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075622"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3578,
          "referenceAllele": "G",
          "start": 3577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530849.1:c.3316G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529151.1:p.Gly1106Arg",
        "hgvsWellDefined": "XP_011529151.1:p.Gly1106Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3957,
          "referenceAllele": "G",
          "start": 3956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530850.1:c.3640G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529152.1:p.Gly1214Arg",
        "hgvsWellDefined": "XP_011529152.1:p.Gly1214Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1325,
          "referenceAllele": "G",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530851.1:c.1213G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529153.1:p.Gly405Arg",
        "hgvsWellDefined": "XP_011529153.1:p.Gly405Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097894"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3670,
          "referenceAllele": "G",
          "start": 3669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530849.2:c.3655G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529151.2:p.Gly1219Arg",
        "hgvsWellDefined": "XP_011529151.2:p.Gly1219Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3670,
          "referenceAllele": "G",
          "start": 3669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029259.2:c.3655G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884748.1:p.Gly1219Arg",
        "hgvsWellDefined": "XP_016884748.1:p.Gly1219Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578835"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3670,
          "referenceAllele": "G",
          "start": 3669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029260.1:c.3655G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884749.1:p.Gly1219Arg",
        "hgvsWellDefined": "XP_016884749.1:p.Gly1219Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578836"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3670,
          "referenceAllele": "G",
          "start": 3669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029261.1:c.3655G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884750.1:p.Gly1219Arg",
        "hgvsWellDefined": "XP_016884750.1:p.Gly1219Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3670,
          "referenceAllele": "G",
          "start": 3669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029262.2:c.3655G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884751.1:p.Gly1219Arg",
        "hgvsWellDefined": "XP_016884751.1:p.Gly1219Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2754,
          "referenceAllele": "G",
          "start": 2753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029263.2:c.1975G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884752.1:p.Gly659Arg",
        "hgvsWellDefined": "XP_016884752.1:p.Gly659Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578839"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825199878",
      "coordinates": [
        {
          "allele": "A",
          "end": 3928,
          "referenceAllele": "G",
          "start": 3927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_000495.5:c.3640G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000486.1:p.Gly1214Arg",
        "hgvsWellDefined": "NP_000486.1:p.Gly1214Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499294918",
      "coordinates": [
        {
          "allele": "A",
          "end": 3928,
          "referenceAllele": "G",
          "start": 3927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_033380.3:c.3640G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_203699.1:p.Gly1214Arg",
        "hgvsWellDefined": "NP_203699.1:p.Gly1214Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699344",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328300.11:c.3640G>A"
          },
          "RefSeq": {
            "hgvs": "NM_033380.3:c.3640G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000331902.7:p.Gly1214Arg"
          },
          "RefSeq": {
            "hgvs": "NP_203699.1:p.Gly1214Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}