{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA358858895",
  "communityStandardTitle": [
    "NM_152682.4(RWDD4):c.544A>C (p.Thr182Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2232016[alleleid]",
        "alleleId": 2232016,
        "preferredName": "NM_152682.4(RWDD4):c.544A>C (p.Thr182Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2237831",
        "RCV": [
          "RCV004093070"
        ],
        "variationId": 2237831
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.184562612T>G?assembly=hg19",
        "id": "chr4:g.184562612T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.183641459T>G?assembly=hg38",
        "id": "chr4:g.183641459T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1453458124",
        "rs": 1453458124
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-183641459-T-G?dataset=gnomad_r3",
        "id": "4-183641459-T-G",
        "variant": "4:183641459 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-183641459-T-G?dataset=gnomad_r4",
        "id": "4-183641459-T-G",
        "variant": "4:183641459 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 183641459,
          "referenceAllele": "T",
          "start": 183641458
        }
      ],
      "hgvs": [
        "NC_000004.12:g.183641459T>G",
        "CM000666.2:g.183641459T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 184562612,
          "referenceAllele": "T",
          "start": 184562611
        }
      ],
      "hgvs": [
        "NC_000004.11:g.184562612T>G",
        "CM000666.1:g.184562612T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 184799606,
          "referenceAllele": "T",
          "start": 184799605
        }
      ],
      "hgvs": [
        "NC_000004.10:g.184799606T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 777,
          "referenceAllele": "A",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023750",
      "geneNCBI_id": 201965,
      "geneSymbol": "RWDD4",
      "hgvs": [
        "ENST00000326397.10:c.544A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388920.2:p.Thr182Pro",
        "hgvsWellDefined": "ENSP00000388920.2:p.Thr182Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746759",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326397.10:c.544A>C"
          },
          "RefSeq": {
            "hgvs": "NM_152682.4:c.544A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000388920.2:p.Thr182Pro"
          },
          "RefSeq": {
            "hgvs": "NP_689895.2:p.Thr182Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 817,
          "referenceAllele": "A",
          "start": 816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023750",
      "geneNCBI_id": 201965,
      "geneSymbol": "RWDD4",
      "hgvs": [
        "ENST00000326397.9:c.544A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388920.2:p.Thr182Pro",
        "hgvsWellDefined": "ENSP00000388920.2:p.Thr182Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258612"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 767,
          "referenceAllele": "A",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023750",
      "geneNCBI_id": 201965,
      "geneSymbol": "RWDD4",
      "hgvs": [
        "ENST00000327570.13:c.541A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332177.9:p.Thr181Pro",
        "hgvsWellDefined": "ENSP00000332177.9:p.Thr181Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 789,
          "referenceAllele": "A",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023750",
      "geneNCBI_id": 201965,
      "geneSymbol": "RWDD4",
      "hgvs": [
        "ENST00000510702.5:c.*405A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427164.1:n.*405A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 552,
          "referenceAllele": "A",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023750",
      "geneNCBI_id": 201965,
      "geneSymbol": "RWDD4",
      "hgvs": [
        "ENST00000510968.5:c.259A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426329.1:p.Thr87Pro",
        "hgvsWellDefined": "ENSP00000426329.1:p.Thr87Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341338"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 663,
          "referenceAllele": "A",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023750",
      "geneNCBI_id": 201965,
      "geneSymbol": "RWDD4",
      "hgvs": [
        "ENST00000512740.1:c.355A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423598.1:p.Thr119Pro",
        "hgvsWellDefined": "ENSP00000423598.1:p.Thr119Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342666"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 685,
          "referenceAllele": "A",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023750",
      "geneNCBI_id": 201965,
      "geneSymbol": "RWDD4",
      "hgvs": [
        "ENST00000514322.1:c.*272A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420945.1:n.*272A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343836"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826917610",
      "coordinates": [
        {
          "allele": "C",
          "end": 807,
          "referenceAllele": "A",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023750",
      "geneNCBI_id": 201965,
      "geneSymbol": "RWDD4",
      "hgvs": [
        "NM_001307922.1:c.355A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001294851.1:p.Thr119Pro",
        "hgvsWellDefined": "NP_001294851.1:p.Thr119Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026041"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580525528",
      "coordinates": [
        {
          "allele": "C",
          "end": 770,
          "referenceAllele": "A",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023750",
      "geneNCBI_id": 201965,
      "geneSymbol": "RWDD4",
      "hgvs": [
        "NM_152682.2:c.544A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_689895.2:p.Thr182Pro",
        "hgvsWellDefined": "NP_689895.2:p.Thr182Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247078"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580525528",
      "coordinates": [
        {
          "allele": "C",
          "end": 811,
          "referenceAllele": "A",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023750",
      "geneNCBI_id": 201965,
      "geneSymbol": "RWDD4",
      "hgvs": [
        "NM_152682.3:c.544A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_689895.2:p.Thr182Pro",
        "hgvsWellDefined": "NP_689895.2:p.Thr182Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042069"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 944,
          "referenceAllele": "A",
          "start": 943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023750",
      "geneNCBI_id": 201965,
      "geneSymbol": "RWDD4",
      "hgvs": [
        "XR_002959716.1:n.944A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605648"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580525528",
      "coordinates": [
        {
          "allele": "C",
          "end": 777,
          "referenceAllele": "A",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023750",
      "geneNCBI_id": 201965,
      "geneSymbol": "RWDD4",
      "hgvs": [
        "NM_152682.4:c.544A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_689895.2:p.Thr182Pro",
        "hgvsWellDefined": "NP_689895.2:p.Thr182Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672416",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326397.10:c.544A>C"
          },
          "RefSeq": {
            "hgvs": "NM_152682.4:c.544A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000388920.2:p.Thr182Pro"
          },
          "RefSeq": {
            "hgvs": "NP_689895.2:p.Thr182Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826917610",
      "coordinates": [
        {
          "allele": "C",
          "end": 773,
          "referenceAllele": "A",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023750",
      "geneNCBI_id": 201965,
      "geneSymbol": "RWDD4",
      "hgvs": [
        "NM_001307922.2:c.355A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001294851.1:p.Thr119Pro",
        "hgvsWellDefined": "NP_001294851.1:p.Thr119Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683873"
    }
  ],
  "type": "nucleotide"
}