{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1332859586",
  "communityStandardTitle": [
    "NM_000091.5(COL4A3):c.3955G= (p.Gly1319=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/765661521",
        "rs": 765661521
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 227303110,
          "referenceAllele": "G",
          "start": 227303109
        }
      ],
      "hgvs": [
        "NC_000002.12:g.227303110G=",
        "CM000664.2:g.227303110G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 228167826,
          "referenceAllele": "G",
          "start": 228167825
        }
      ],
      "hgvs": [
        "NC_000002.11:g.228167826G=",
        "CM000664.1:g.228167826G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 227876070,
          "referenceAllele": "G",
          "start": 227876069
        }
      ],
      "hgvs": [
        "NC_000002.10:g.227876070G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 143546,
          "referenceAllele": "G",
          "start": 143545
        }
      ],
      "hgvs": [
        "NG_011591.1:g.143546G=",
        "LRG_230:g.143546G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001839"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 373,
          "referenceAllele": "G",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000471862.2:n.373G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4058,
          "referenceAllele": "G",
          "start": 4057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000396578.8:c.3955G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379823.3:p.Gly1319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753536",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396578.8:c.3955G="
          },
          "RefSeq": {
            "hgvs": "NM_000091.5:c.3955G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379823.3:p.Gly1319="
          },
          "RefSeq": {
            "hgvs": "NP_000082.2:p.Gly1319="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4117,
          "referenceAllele": "G",
          "start": 4116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000396578.7:c.3955G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379823.3:p.Gly1319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277337"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 618,
          "referenceAllele": "G",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000468753.5:n.618G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311596"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 373,
          "referenceAllele": "G",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000471862.1:n.373G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313966"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066953864",
      "coordinates": [
        {
          "allele": "G",
          "end": 4117,
          "referenceAllele": "G",
          "start": 4116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "NM_000091.4:c.3955G=",
        "LRG_230t1:c.3955G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000082.2:p.Gly1319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006155"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 243,
          "endIntronDirection": "+",
          "endIntronOffset": 2350,
          "referenceAllele": "C",
          "start": 243,
          "startIntronDirection": "+",
          "startIntronOffset": 2349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN041067",
      "geneNCBI_id": 654841,
      "geneSymbol": "MFF-DT",
      "hgvs": [
        "NR_102371.1:n.243+2350C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052797"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4093,
          "referenceAllele": "G",
          "start": 4092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246276.2:c.3955G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005246333.1:p.Gly1319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057548"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3988,
          "referenceAllele": "G",
          "start": 3987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246277.2:c.3850G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005246334.1:p.Gly1284="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057549"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4093,
          "referenceAllele": "G",
          "start": 4092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_011510555.1:c.3955G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011508857.1:p.Gly1319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3149,
          "referenceAllele": "G",
          "start": 3148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_011510556.1:c.2716G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011508858.1:p.Gly906="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4093,
          "referenceAllele": "G",
          "start": 4092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XR_241280.2:n.4093G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3988,
          "referenceAllele": "G",
          "start": 3987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246277.3:c.3850G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005246334.1:p.Gly1284="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532574"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3149,
          "referenceAllele": "G",
          "start": 3148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_011510556.2:c.2716G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011508858.1:p.Gly906="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541765"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4093,
          "referenceAllele": "G",
          "start": 4092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XR_241280.3:n.4093G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605830"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066953864",
      "coordinates": [
        {
          "allele": "G",
          "end": 4058,
          "referenceAllele": "G",
          "start": 4057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "NM_000091.5:c.3955G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000082.2:p.Gly1319="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674698",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396578.8:c.3955G="
          },
          "RefSeq": {
            "hgvs": "NM_000091.5:c.3955G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379823.3:p.Gly1319="
          },
          "RefSeq": {
            "hgvs": "NP_000082.2:p.Gly1319="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}