{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8927121",
  "communityStandardTitle": [
    "NM_177986.5(DSG4):c.1930A>C (p.Ile644Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=331139[alleleid]",
        "alleleId": 331139,
        "preferredName": "NM_177986.5(DSG4):c.1930A>C (p.Ile644Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/326441",
        "RCV": [
          "RCV000309846",
          "RCV001660674"
        ],
        "variationId": 326441
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/18-28986333-A-C",
        "id": "18-28986333-A-C",
        "variant": "18:28986333 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.28986333A>C?assembly=hg19",
        "id": "chr18:g.28986333A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.31406370A>C?assembly=hg38",
        "id": "chr18:g.31406370A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4799570",
        "rs": 4799570
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-28986333-A-C?dataset=gnomad_r2_1",
        "id": "18-28986333-A-C",
        "variant": "18:28986333 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-31406370-A-C?dataset=gnomad_r3",
        "id": "18-31406370-A-C",
        "variant": "18:31406370 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-31406370-A-C?dataset=gnomad_r4",
        "id": "18-31406370-A-C",
        "variant": "18:31406370 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 31406370,
          "referenceAllele": "A",
          "start": 31406369
        }
      ],
      "hgvs": [
        "NC_000018.10:g.31406370A>C",
        "CM000680.2:g.31406370A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 28986333,
          "referenceAllele": "A",
          "start": 28986332
        }
      ],
      "hgvs": [
        "NC_000018.9:g.28986333A>C",
        "CM000680.1:g.28986333A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 27240331,
          "referenceAllele": "A",
          "start": 27240330
        }
      ],
      "hgvs": [
        "NC_000018.8:g.27240331A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 34594,
          "referenceAllele": "A",
          "start": 34593
        }
      ],
      "hgvs": [
        "NG_013040.1:g.34594A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002684"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2065,
          "referenceAllele": "A",
          "start": 2064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021307",
      "geneNCBI_id": 147409,
      "geneSymbol": "DSG4",
      "hgvs": [
        "ENST00000308128.9:c.1930A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311859.4:p.Ile644Leu",
        "hgvsWellDefined": "ENSP00000311859.4:p.Ile644Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745436",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308128.9:c.1930A>C"
          },
          "RefSeq": {
            "hgvs": "NM_177986.5:c.1930A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000311859.4:p.Ile644Leu"
          },
          "RefSeq": {
            "hgvs": "NP_817123.1:p.Ile644Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2065,
          "referenceAllele": "A",
          "start": 2064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021307",
      "geneNCBI_id": 147409,
      "geneSymbol": "DSG4",
      "hgvs": [
        "ENST00000308128.8:c.1930A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311859.4:p.Ile644Leu",
        "hgvsWellDefined": "ENSP00000311859.4:p.Ile644Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1959,
          "referenceAllele": "A",
          "start": 1958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021307",
      "geneNCBI_id": 147409,
      "geneSymbol": "DSG4",
      "hgvs": [
        "ENST00000359747.4:c.1930A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352785.4:p.Ile644Leu",
        "hgvsWellDefined": "ENSP00000352785.4:p.Ile644Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264892"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825780649",
      "coordinates": [
        {
          "allele": "C",
          "end": 2065,
          "referenceAllele": "A",
          "start": 2064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021307",
      "geneNCBI_id": 147409,
      "geneSymbol": "DSG4",
      "hgvs": [
        "NM_001134453.1:c.1930A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001127925.1:p.Ile644Leu",
        "hgvsWellDefined": "NP_001127925.1:p.Ile644Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012253"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645504297",
      "coordinates": [
        {
          "allele": "C",
          "end": 2065,
          "referenceAllele": "A",
          "start": 2064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021307",
      "geneNCBI_id": 147409,
      "geneSymbol": "DSG4",
      "hgvs": [
        "NM_177986.3:c.1930A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_817123.1:p.Ile644Leu",
        "hgvsWellDefined": "NP_817123.1:p.Ile644Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043411"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 156,
          "endIntronDirection": "+",
          "endIntronOffset": 20463,
          "referenceAllele": "T",
          "start": 156,
          "startIntronDirection": "+",
          "startIntronOffset": 20462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN051115",
      "geneNCBI_id": 101927718,
      "geneSymbol": "DSG1-AS1",
      "hgvs": [
        "NR_110788.1:n.156+20463T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054919"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1980,
          "referenceAllele": "A",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021307",
      "geneNCBI_id": 147409,
      "geneSymbol": "DSG4",
      "hgvs": [
        "XM_011525827.1:c.532A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524129.1:p.Ile178Leu",
        "hgvsWellDefined": "XP_011524129.1:p.Ile178Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092942"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825780649",
      "coordinates": [
        {
          "allele": "C",
          "end": 2065,
          "referenceAllele": "A",
          "start": 2064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021307",
      "geneNCBI_id": 147409,
      "geneSymbol": "DSG4",
      "hgvs": [
        "NM_001134453.2:c.1930A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001127925.1:p.Ile644Leu",
        "hgvsWellDefined": "NP_001127925.1:p.Ile644Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511473"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645504297",
      "coordinates": [
        {
          "allele": "C",
          "end": 2065,
          "referenceAllele": "A",
          "start": 2064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021307",
      "geneNCBI_id": 147409,
      "geneSymbol": "DSG4",
      "hgvs": [
        "NM_177986.4:c.1930A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_817123.1:p.Ile644Leu",
        "hgvsWellDefined": "NP_817123.1:p.Ile644Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526819"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645504297",
      "coordinates": [
        {
          "allele": "C",
          "end": 2065,
          "referenceAllele": "A",
          "start": 2064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021307",
      "geneNCBI_id": 147409,
      "geneSymbol": "DSG4",
      "hgvs": [
        "NM_177986.5:c.1930A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_817123.1:p.Ile644Leu",
        "hgvsWellDefined": "NP_817123.1:p.Ile644Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700814",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308128.9:c.1930A>C"
          },
          "RefSeq": {
            "hgvs": "NM_177986.5:c.1930A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000311859.4:p.Ile644Leu"
          },
          "RefSeq": {
            "hgvs": "NP_817123.1:p.Ile644Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825780649",
      "coordinates": [
        {
          "allele": "C",
          "end": 2065,
          "referenceAllele": "A",
          "start": 2064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021307",
      "geneNCBI_id": 147409,
      "geneSymbol": "DSG4",
      "hgvs": [
        "NM_001134453.3:c.1930A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001127925.1:p.Ile644Leu",
        "hgvsWellDefined": "NP_001127925.1:p.Ile644Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712386"
    }
  ],
  "type": "nucleotide"
}