{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA399196735",
  "communityStandardTitle": [
    "NM_020791.4(TAOK1):c.1640A>C (p.Glu547Ala)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.27837946A>C?assembly=hg19",
        "id": "chr17:g.27837946A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.29510928A>C?assembly=hg38",
        "id": "chr17:g.29510928A>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 29510928,
          "referenceAllele": "A",
          "start": 29510927
        }
      ],
      "hgvs": [
        "NC_000017.11:g.29510928A>C",
        "CM000679.2:g.29510928A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 27837946,
          "referenceAllele": "A",
          "start": 27837945
        }
      ],
      "hgvs": [
        "NC_000017.10:g.27837946A>C",
        "CM000679.1:g.27837946A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 24862072,
          "referenceAllele": "A",
          "start": 24862071
        }
      ],
      "hgvs": [
        "NC_000017.9:g.24862072A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2396,
          "referenceAllele": "A",
          "start": 2395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029259",
      "geneNCBI_id": 57551,
      "geneSymbol": "TAOK1",
      "hgvs": [
        "ENST00000261716.8:c.1640A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261716.3:p.Glu547Ala",
        "hgvsWellDefined": "ENSP00000261716.3:p.Glu547Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742192",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261716.8:c.1640A>C"
          },
          "RefSeq": {
            "hgvs": "NM_020791.4:c.1640A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261716.3:p.Glu547Ala"
          },
          "RefSeq": {
            "hgvs": "NP_065842.1:p.Glu547Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2159,
          "referenceAllele": "A",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029259",
      "geneNCBI_id": 57551,
      "geneSymbol": "TAOK1",
      "hgvs": [
        "ENST00000261716.7:c.1640A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261716.3:p.Glu547Ala",
        "hgvsWellDefined": "ENSP00000261716.3:p.Glu547Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250823"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1828,
          "referenceAllele": "A",
          "start": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029259",
      "geneNCBI_id": 57551,
      "geneSymbol": "TAOK1",
      "hgvs": [
        "ENST00000536202.1:c.1640A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438819.1:p.Glu547Ala",
        "hgvsWellDefined": "ENSP00000438819.1:p.Glu547Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360143"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1488,
          "referenceAllele": "A",
          "start": 1487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029259",
      "geneNCBI_id": 57551,
      "geneSymbol": "TAOK1",
      "hgvs": [
        "ENST00000577583.1:n.1488A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384936"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1834,
          "referenceAllele": "A",
          "start": 1833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029259",
      "geneNCBI_id": 57551,
      "geneSymbol": "TAOK1",
      "hgvs": [
        "NM_020791.2:c.1640A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_065842.1:p.Glu547Ala",
        "hgvsWellDefined": "NP_065842.1:p.Glu547Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036588"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1834,
          "referenceAllele": "A",
          "start": 1833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029259",
      "geneNCBI_id": 57551,
      "geneSymbol": "TAOK1",
      "hgvs": [
        "NM_025142.1:c.1640A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_079418.1:p.Glu547Ala",
        "hgvsWellDefined": "NP_079418.1:p.Glu547Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038226"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1830,
          "referenceAllele": "A",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029259",
      "geneNCBI_id": 57551,
      "geneSymbol": "TAOK1",
      "hgvs": [
        "XM_011525060.1:c.1640A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523362.1:p.Glu547Ala",
        "hgvsWellDefined": "XP_011523362.1:p.Glu547Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092179"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1856,
          "referenceAllele": "A",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029259",
      "geneNCBI_id": 57551,
      "geneSymbol": "TAOK1",
      "hgvs": [
        "XM_011525060.2:c.1640A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523362.1:p.Glu547Ala",
        "hgvsWellDefined": "XP_011523362.1:p.Glu547Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547709"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2396,
          "referenceAllele": "A",
          "start": 2395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029259",
      "geneNCBI_id": 57551,
      "geneSymbol": "TAOK1",
      "hgvs": [
        "NM_020791.4:c.1640A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_065842.1:p.Glu547Ala",
        "hgvsWellDefined": "NP_065842.1:p.Glu547Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728468",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261716.8:c.1640A>C"
          },
          "RefSeq": {
            "hgvs": "NM_020791.4:c.1640A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261716.3:p.Glu547Ala"
          },
          "RefSeq": {
            "hgvs": "NP_065842.1:p.Glu547Ala"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}