{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA350846666",
  "communityStandardTitle": [
    "NM_000091.5(COL4A3):c.2033C>A (p.Ser678Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1442001[alleleid]",
        "alleleId": 1442001,
        "preferredName": "NM_000091.5(COL4A3):c.2033C>A (p.Ser678Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1482636",
        "RCV": [
          "RCV001995728",
          "RCV002486513"
        ],
        "variationId": 1482636
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.228142177C>A?assembly=hg19",
        "id": "chr2:g.228142177C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.227277461C>A?assembly=hg38",
        "id": "chr2:g.227277461C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1354756195",
        "rs": 1354756195
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 227277461,
          "referenceAllele": "C",
          "start": 227277460
        }
      ],
      "hgvs": [
        "NC_000002.12:g.227277461C>A",
        "CM000664.2:g.227277461C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 228142177,
          "referenceAllele": "C",
          "start": 228142176
        }
      ],
      "hgvs": [
        "NC_000002.11:g.228142177C>A",
        "CM000664.1:g.228142177C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 227850421,
          "referenceAllele": "C",
          "start": 227850420
        }
      ],
      "hgvs": [
        "NC_000002.10:g.227850421C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 117897,
          "referenceAllele": "C",
          "start": 117896
        }
      ],
      "hgvs": [
        "NG_011591.1:g.117897C>A",
        "LRG_230:g.117897C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001839"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2136,
          "referenceAllele": "C",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000396578.8:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379823.3:p.Ser678Tyr",
        "hgvsWellDefined": "ENSP00000379823.3:p.Ser678Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753536",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396578.8:c.2033C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000091.5:c.2033C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379823.3:p.Ser678Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000082.2:p.Ser678Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2195,
          "referenceAllele": "C",
          "start": 2194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000396578.7:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379823.3:p.Ser678Tyr",
        "hgvsWellDefined": "ENSP00000379823.3:p.Ser678Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277337"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573161538",
      "coordinates": [
        {
          "allele": "A",
          "end": 2195,
          "referenceAllele": "C",
          "start": 2194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "NM_000091.4:c.2033C>A",
        "LRG_230t1:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000082.2:p.Ser678Tyr",
        "hgvsWellDefined": "NP_000082.2:p.Ser678Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006155"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 422,
          "endIntronDirection": "+",
          "endIntronOffset": 2022,
          "referenceAllele": "G",
          "start": 422,
          "startIntronDirection": "+",
          "startIntronOffset": 2021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN041067",
      "geneNCBI_id": 654841,
      "geneSymbol": "MFF-DT",
      "hgvs": [
        "NR_102371.1:n.422+2022G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052797"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2171,
          "referenceAllele": "C",
          "start": 2170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246276.2:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246333.1:p.Ser678Tyr",
        "hgvsWellDefined": "XP_005246333.1:p.Ser678Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057548"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2158,
          "endIntronDirection": "+",
          "endIntronOffset": 984,
          "referenceAllele": "C",
          "start": 2158,
          "startIntronDirection": "+",
          "startIntronOffset": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246277.2:c.2020+984C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246334.1:n.2020+984C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2171,
          "referenceAllele": "C",
          "start": 2170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246280.2:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246337.1:p.Ser678Tyr",
        "hgvsWellDefined": "XP_005246337.1:p.Ser678Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057550"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2171,
          "referenceAllele": "C",
          "start": 2170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_006712245.2:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712308.1:p.Ser678Tyr",
        "hgvsWellDefined": "XP_006712308.1:p.Ser678Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2171,
          "referenceAllele": "C",
          "start": 2170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_011510555.1:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508857.1:p.Ser678Tyr",
        "hgvsWellDefined": "XP_011508857.1:p.Ser678Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1227,
          "referenceAllele": "C",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_011510556.1:c.794C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508858.1:p.Ser265Tyr",
        "hgvsWellDefined": "XP_011508858.1:p.Ser265Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2171,
          "referenceAllele": "C",
          "start": 2170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XR_241280.2:n.2171C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2158,
          "endIntronDirection": "+",
          "endIntronOffset": 984,
          "referenceAllele": "C",
          "start": 2158,
          "startIntronDirection": "+",
          "startIntronOffset": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246277.3:c.2020+984C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246334.1:n.2020+984C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532574"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2171,
          "referenceAllele": "C",
          "start": 2170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246280.3:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246337.1:p.Ser678Tyr",
        "hgvsWellDefined": "XP_005246337.1:p.Ser678Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532575"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2171,
          "referenceAllele": "C",
          "start": 2170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_006712245.3:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712308.1:p.Ser678Tyr",
        "hgvsWellDefined": "XP_006712308.1:p.Ser678Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1227,
          "referenceAllele": "C",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_011510556.2:c.794C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508858.1:p.Ser265Tyr",
        "hgvsWellDefined": "XP_011508858.1:p.Ser265Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2171,
          "referenceAllele": "C",
          "start": 2170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_017003295.1:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858784.1:p.Ser678Tyr",
        "hgvsWellDefined": "XP_016858784.1:p.Ser678Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559066"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2171,
          "referenceAllele": "C",
          "start": 2170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XR_001738601.1:n.2171C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589090"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2171,
          "referenceAllele": "C",
          "start": 2170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XR_241280.3:n.2171C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605830"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573161538",
      "coordinates": [
        {
          "allele": "A",
          "end": 2136,
          "referenceAllele": "C",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "NM_000091.5:c.2033C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000082.2:p.Ser678Tyr",
        "hgvsWellDefined": "NP_000082.2:p.Ser678Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674698",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396578.8:c.2033C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000091.5:c.2033C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379823.3:p.Ser678Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000082.2:p.Ser678Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}