{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA388723102",
  "communityStandardTitle": [
    "NM_001845.6(COL4A1):c.1603T>C (p.Phe535Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.110839610A>G?assembly=hg19",
        "id": "chr13:g.110839610A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.110187263A>G?assembly=hg38",
        "id": "chr13:g.110187263A>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 110187263,
          "referenceAllele": "A",
          "start": 110187262
        }
      ],
      "hgvs": [
        "NC_000013.11:g.110187263A>G",
        "CM000675.2:g.110187263A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 110839610,
          "referenceAllele": "A",
          "start": 110839609
        }
      ],
      "hgvs": [
        "NC_000013.10:g.110839610A>G",
        "CM000675.1:g.110839610A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 109637611,
          "referenceAllele": "A",
          "start": 109637610
        }
      ],
      "hgvs": [
        "NC_000013.9:g.109637611A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 124887,
          "referenceAllele": "T",
          "start": 124886
        }
      ],
      "hgvs": [
        "NG_011544.2:g.124887T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001806"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1733,
          "referenceAllele": "T",
          "start": 1732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "ENST00000375820.10:c.1603T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364979.4:p.Phe535Leu",
        "hgvsWellDefined": "ENSP00000364979.4:p.Phe535Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751671",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375820.10:c.1603T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001845.6:c.1603T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364979.4:p.Phe535Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001836.3:p.Phe535Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1733,
          "referenceAllele": "T",
          "start": 1732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "ENST00000649738.1:n.1733T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770713"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1725,
          "referenceAllele": "T",
          "start": 1724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "ENST00000375820.8:c.1603T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364979.4:p.Phe535Leu",
        "hgvsWellDefined": "ENSP00000364979.4:p.Phe535Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270886"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580258768",
      "coordinates": [
        {
          "allele": "C",
          "end": 1733,
          "referenceAllele": "T",
          "start": 1732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "NM_001845.5:c.1603T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001836.3:p.Phe535Leu",
        "hgvsWellDefined": "NP_001836.3:p.Phe535Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027173"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9665,
          "referenceAllele": "T",
          "start": 9664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "XM_011521048.1:c.1411T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519350.1:p.Phe471Leu",
        "hgvsWellDefined": "XP_011519350.1:p.Phe471Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088212"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9665,
          "referenceAllele": "T",
          "start": 9664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "XM_011521048.2:c.1411T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519350.1:p.Phe471Leu",
        "hgvsWellDefined": "XP_011519350.1:p.Phe471Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545967"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580258768",
      "coordinates": [
        {
          "allele": "C",
          "end": 1733,
          "referenceAllele": "T",
          "start": 1732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "NM_001845.6:c.1603T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001836.3:p.Phe535Leu",
        "hgvsWellDefined": "NP_001836.3:p.Phe535Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665207",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375820.10:c.1603T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001845.6:c.1603T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364979.4:p.Phe535Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001836.3:p.Phe535Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}