{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7048056",
  "communityStandardTitle": [
    "NM_001845.6(COL4A1):c.1092A>T (p.Pro364=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=769401[alleleid]",
        "alleleId": 769401,
        "preferredName": "NM_001845.6(COL4A1):c.1092A>T (p.Pro364=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/755755",
        "RCV": [
          "RCV000933205"
        ],
        "variationId": 755755
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-110853229-T-A",
        "id": "13-110853229-T-A",
        "variant": "13:110853229 T / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.110853229T>A?assembly=hg19",
        "id": "chr13:g.110853229T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.110200882T>A?assembly=hg38",
        "id": "chr13:g.110200882T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/141208458",
        "rs": 141208458
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-110853229-T-A?dataset=gnomad_r2_1",
        "id": "13-110853229-T-A",
        "variant": "13:110853229 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-110200882-T-A?dataset=gnomad_r4",
        "id": "13-110200882-T-A",
        "variant": "13:110200882 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 110200882,
          "referenceAllele": "T",
          "start": 110200881
        }
      ],
      "hgvs": [
        "NC_000013.11:g.110200882T>A",
        "CM000675.2:g.110200882T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 110853229,
          "referenceAllele": "T",
          "start": 110853228
        }
      ],
      "hgvs": [
        "NC_000013.10:g.110853229T>A",
        "CM000675.1:g.110853229T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 109651230,
          "referenceAllele": "T",
          "start": 109651229
        }
      ],
      "hgvs": [
        "NC_000013.9:g.109651230T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 111268,
          "referenceAllele": "A",
          "start": 111267
        }
      ],
      "hgvs": [
        "NG_011544.2:g.111268A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001806"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1222,
          "referenceAllele": "A",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "ENST00000375820.10:c.1092A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364979.4:p.Pro364="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751671",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375820.10:c.1092A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001845.6:c.1092A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364979.4:p.Pro364="
          },
          "RefSeq": {
            "hgvs": "NP_001836.3:p.Pro364="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1196,
          "referenceAllele": "A",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "ENST00000543140.6:c.1092A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443348.1:p.Pro364="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 971,
          "referenceAllele": "A",
          "start": 970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "ENST00000647797.1:c.971A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769617"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1222,
          "referenceAllele": "A",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "ENST00000649738.1:n.1222A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770713"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1214,
          "referenceAllele": "A",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "ENST00000375820.8:c.1092A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364979.4:p.Pro364="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1196,
          "referenceAllele": "A",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "ENST00000543140.5:c.1092A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443348.1:p.Pro364="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363846"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826877875",
      "coordinates": [
        {
          "allele": "T",
          "end": 1222,
          "referenceAllele": "A",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "NM_001303110.1:c.1092A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290039.1:p.Pro364="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025427"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829321943",
      "coordinates": [
        {
          "allele": "T",
          "end": 1222,
          "referenceAllele": "A",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "NM_001845.5:c.1092A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001836.3:p.Pro364="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027173"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9154,
          "referenceAllele": "A",
          "start": 9153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "XM_011521048.1:c.900A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519350.1:p.Pro300="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9154,
          "referenceAllele": "A",
          "start": 9153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "XM_011521048.2:c.900A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519350.1:p.Pro300="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545967"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829321943",
      "coordinates": [
        {
          "allele": "T",
          "end": 1222,
          "referenceAllele": "A",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "NM_001845.6:c.1092A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001836.3:p.Pro364="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665207",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375820.10:c.1092A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001845.6:c.1092A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364979.4:p.Pro364="
          },
          "RefSeq": {
            "hgvs": "NP_001836.3:p.Pro364="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826877875",
      "coordinates": [
        {
          "allele": "T",
          "end": 1222,
          "referenceAllele": "A",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "NM_001303110.2:c.1092A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290039.1:p.Pro364="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683530"
    }
  ],
  "type": "nucleotide"
}