{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397094634",
  "communityStandardTitle": [
    "NM_001367624.2(ZNF469):c.4972T>C (p.Trp1658Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88498850T>C?assembly=hg19",
        "id": "chr16:g.88498850T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88432442T>C?assembly=hg38",
        "id": "chr16:g.88432442T>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 88432442,
          "referenceAllele": "T",
          "start": 88432441
        }
      ],
      "hgvs": [
        "NC_000016.10:g.88432442T>C",
        "CM000678.2:g.88432442T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 88498850,
          "referenceAllele": "T",
          "start": 88498849
        }
      ],
      "hgvs": [
        "NC_000016.9:g.88498850T>C",
        "CM000678.1:g.88498850T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 87026351,
          "referenceAllele": "T",
          "start": 87026350
        }
      ],
      "hgvs": [
        "NC_000016.8:g.87026351T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9972,
          "referenceAllele": "T",
          "start": 9971
        }
      ],
      "hgvs": [
        "NG_012236.2:g.9972T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002308"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5459,
          "referenceAllele": "T",
          "start": 5458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "ENST00000565624.3:c.4972T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456500.2:p.Trp1658Arg",
        "hgvsWellDefined": "ENSP00000456500.2:p.Trp1658Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760473",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000565624.3:c.4972T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001367624.2:c.4972T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000456500.2:p.Trp1658Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001354553.1:p.Trp1658Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4888,
          "referenceAllele": "T",
          "start": 4887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "ENST00000437464.1:c.4888T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402343.1:p.Trp1630Arg",
        "hgvsWellDefined": "ENSP00000402343.1:p.Trp1630Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294477"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4972,
          "referenceAllele": "T",
          "start": 4971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "ENST00000565624.1:c.4972T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456500.1:p.Trp1658Arg",
        "hgvsWellDefined": "ENSP00000456500.1:p.Trp1658Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378871"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4888,
          "referenceAllele": "T",
          "start": 4887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "NM_001127464.2:c.4888T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120936.2:p.Trp1630Arg",
        "hgvsWellDefined": "NP_001120936.2:p.Trp1630Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011623"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5425,
          "referenceAllele": "T",
          "start": 5424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "XM_011523386.1:c.4972T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521688.1:p.Trp1658Arg",
        "hgvsWellDefined": "XP_011521688.1:p.Trp1658Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090524"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5341,
          "referenceAllele": "T",
          "start": 5340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "XM_011523387.1:c.4972T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521689.1:p.Trp1658Arg",
        "hgvsWellDefined": "XP_011521689.1:p.Trp1658Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090525"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5181,
          "referenceAllele": "T",
          "start": 5180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "XM_011523388.1:c.4972T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521690.1:p.Trp1658Arg",
        "hgvsWellDefined": "XP_011521690.1:p.Trp1658Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090526"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6122,
          "referenceAllele": "T",
          "start": 6121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "XM_017023784.1:c.4972T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879273.1:p.Trp1658Arg",
        "hgvsWellDefined": "XP_016879273.1:p.Trp1658Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574468"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5165,
          "referenceAllele": "T",
          "start": 5164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "XM_017023785.1:c.4972T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879274.1:p.Trp1658Arg",
        "hgvsWellDefined": "XP_016879274.1:p.Trp1658Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574469"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573210334",
      "coordinates": [
        {
          "allele": "C",
          "end": 4972,
          "referenceAllele": "T",
          "start": 4971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "NM_001367624.1:c.4972T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354553.1:p.Trp1658Arg",
        "hgvsWellDefined": "NP_001354553.1:p.Trp1658Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573210334",
      "coordinates": [
        {
          "allele": "C",
          "end": 5459,
          "referenceAllele": "T",
          "start": 5458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023216",
      "geneNCBI_id": 84627,
      "geneSymbol": "ZNF469",
      "hgvs": [
        "NM_001367624.2:c.4972T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354553.1:p.Trp1658Arg",
        "hgvsWellDefined": "NP_001354553.1:p.Trp1658Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691279",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000565624.3:c.4972T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001367624.2:c.4972T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000456500.2:p.Trp1658Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001354553.1:p.Trp1658Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}