{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA367280267",
  "communityStandardTitle": [
    "NM_003718.5(CDK13):c.2511T>A (p.Asp837Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3801439[alleleid]",
        "alleleId": 3801439,
        "preferredName": "NM_003718.5(CDK13):c.2511T>A (p.Asp837Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3661760",
        "RCV": [
          "RCV005135619"
        ],
        "variationId": 3661760
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.40085592T>A?assembly=hg19",
        "id": "chr7:g.40085592T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.40045993T>A?assembly=hg38",
        "id": "chr7:g.40045993T>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 40045993,
          "referenceAllele": "T",
          "start": 40045992
        }
      ],
      "hgvs": [
        "NC_000007.14:g.40045993T>A",
        "CM000669.2:g.40045993T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 40085592,
          "referenceAllele": "T",
          "start": 40085591
        }
      ],
      "hgvs": [
        "NC_000007.13:g.40085592T>A",
        "CM000669.1:g.40085592T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 40052117,
          "referenceAllele": "T",
          "start": 40052116
        }
      ],
      "hgvs": [
        "NC_000007.12:g.40052117T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 100634,
          "referenceAllele": "T",
          "start": 100633
        }
      ],
      "hgvs": [
        "NG_052965.1:g.100634T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617276"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 247,
          "referenceAllele": "T",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001733",
      "geneNCBI_id": 8621,
      "geneSymbol": "CDK13",
      "hgvs": [
        "ENST00000700485.1:n.247T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911245"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 285,
          "referenceAllele": "T",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001733",
      "geneNCBI_id": 8621,
      "geneSymbol": "CDK13",
      "hgvs": [
        "ENST00000700486.1:n.285T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911246"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 253,
          "referenceAllele": "T",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001733",
      "geneNCBI_id": 8621,
      "geneSymbol": "CDK13",
      "hgvs": [
        "ENST00000700487.1:n.253T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911247"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2897,
          "referenceAllele": "T",
          "start": 2896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001733",
      "geneNCBI_id": 8621,
      "geneSymbol": "CDK13",
      "hgvs": [
        "ENST00000181839.10:c.2511T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000181839.4:p.Asp837Glu",
        "hgvsWellDefined": "ENSP00000181839.4:p.Asp837Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740094",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000181839.10:c.2511T>A"
          },
          "RefSeq": {
            "hgvs": "NM_003718.5:c.2511T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000181839.4:p.Asp837Glu"
          },
          "RefSeq": {
            "hgvs": "NP_003709.3:p.Asp837Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3032,
          "referenceAllele": "T",
          "start": 3031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001733",
      "geneNCBI_id": 8621,
      "geneSymbol": "CDK13",
      "hgvs": [
        "ENST00000340829.10:c.2511T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340557.5:p.Asp837Glu",
        "hgvsWellDefined": "ENSP00000340557.5:p.Asp837Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1063,
          "referenceAllele": "T",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001733",
      "geneNCBI_id": 8621,
      "geneSymbol": "CDK13",
      "hgvs": [
        "ENST00000484589.2:c.1063T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757477"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 64,
          "referenceAllele": "T",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001733",
      "geneNCBI_id": 8621,
      "geneSymbol": "CDK13",
      "hgvs": [
        "ENST00000642592.1:c.64T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766827"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1402,
          "referenceAllele": "T",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001733",
      "geneNCBI_id": 8621,
      "geneSymbol": "CDK13",
      "hgvs": [
        "ENST00000643859.1:c.1402T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767511"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 825,
          "referenceAllele": "T",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001733",
      "geneNCBI_id": 8621,
      "geneSymbol": "CDK13",
      "hgvs": [
        "ENST00000643915.1:c.825T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496187.1:p.Asp275Glu",
        "hgvsWellDefined": "ENSP00000496187.1:p.Asp275Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 441,
          "referenceAllele": "T",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001733",
      "geneNCBI_id": 8621,
      "geneSymbol": "CDK13",
      "hgvs": [
        "ENST00000645470.1:c.441T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495036.1:p.Asp147Glu",
        "hgvsWellDefined": "ENSP00000495036.1:p.Asp147Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768370"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1851,
          "referenceAllele": "T",
          "start": 1850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001733",
      "geneNCBI_id": 8621,
      "geneSymbol": "CDK13",
      "hgvs": [
        "ENST00000646039.1:c.1851T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494168.1:p.Asp617Glu",
        "hgvsWellDefined": "ENSP00000494168.1:p.Asp617Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768664"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1580,
          "referenceAllele": "T",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001733",
      "geneNCBI_id": 8621,
      "geneSymbol": "CDK13",
      "hgvs": [
        "ENST00000647453.1:n.1580T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3116,
          "referenceAllele": "T",
          "start": 3115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001733",
      "geneNCBI_id": 8621,
      "geneSymbol": "CDK13",
      "hgvs": [
        "ENST00000181839.8:c.2511T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000181839.4:p.Asp837Glu",
        "hgvsWellDefined": "ENSP00000181839.4:p.Asp837Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247700"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2643,
          "referenceAllele": "T",
          "start": 2642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001733",
      "geneNCBI_id": 8621,
      "geneSymbol": "CDK13",
      "hgvs": [
        "ENST00000340829.9:c.2511T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340557.5:p.Asp837Glu",
        "hgvsWellDefined": "ENSP00000340557.5:p.Asp837Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261180"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1063,
          "referenceAllele": "T",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001733",
      "geneNCBI_id": 8621,
      "geneSymbol": "CDK13",
      "hgvs": [
        "ENST00000484589.1:n.1063T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323808"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1440,
          "referenceAllele": "T",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001733",
      "geneNCBI_id": 8621,
      "geneSymbol": "CDK13",
      "hgvs": [
        "ENST00000611390.1:c.669T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484610.1:p.Asp223Glu",
        "hgvsWellDefined": "ENSP00000484610.1:p.Asp223Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400825"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2793,
          "referenceAllele": "T",
          "start": 2792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001733",
      "geneNCBI_id": 8621,
      "geneSymbol": "CDK13",
      "hgvs": [
        "ENST00000613626.4:c.669T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480835.1:p.Asp223Glu",
        "hgvsWellDefined": "ENSP00000480835.1:p.Asp223Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401828"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829468920",
      "coordinates": [
        {
          "allele": "A",
          "end": 2793,
          "referenceAllele": "T",
          "start": 2792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001733",
      "geneNCBI_id": 8621,
      "geneSymbol": "CDK13",
      "hgvs": [
        "NM_003718.4:c.2511T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003709.3:p.Asp837Glu",
        "hgvsWellDefined": "NP_003709.3:p.Asp837Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028941"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139749369",
      "coordinates": [
        {
          "allele": "A",
          "end": 2793,
          "referenceAllele": "T",
          "start": 2792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001733",
      "geneNCBI_id": 8621,
      "geneSymbol": "CDK13",
      "hgvs": [
        "NM_031267.3:c.2511T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_112557.2:p.Asp837Glu",
        "hgvsWellDefined": "NP_112557.2:p.Asp837Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3315,
          "referenceAllele": "T",
          "start": 3314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001733",
      "geneNCBI_id": 8621,
      "geneSymbol": "CDK13",
      "hgvs": [
        "XM_011515597.1:c.2511T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513899.1:p.Asp837Glu",
        "hgvsWellDefined": "XP_011513899.1:p.Asp837Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082817"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3315,
          "referenceAllele": "T",
          "start": 3314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001733",
      "geneNCBI_id": 8621,
      "geneSymbol": "CDK13",
      "hgvs": [
        "XM_011515598.1:c.2511T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513900.1:p.Asp837Glu",
        "hgvsWellDefined": "XP_011513900.1:p.Asp837Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3489,
          "referenceAllele": "T",
          "start": 3488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001733",
      "geneNCBI_id": 8621,
      "geneSymbol": "CDK13",
      "hgvs": [
        "XM_011515597.3:c.2511T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513899.1:p.Asp837Glu",
        "hgvsWellDefined": "XP_011513899.1:p.Asp837Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543823"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3489,
          "referenceAllele": "T",
          "start": 3488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001733",
      "geneNCBI_id": 8621,
      "geneSymbol": "CDK13",
      "hgvs": [
        "XM_017012750.2:c.2511T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868239.1:p.Asp837Glu",
        "hgvsWellDefined": "XP_016868239.1:p.Asp837Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566271"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3489,
          "referenceAllele": "T",
          "start": 3488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001733",
      "geneNCBI_id": 8621,
      "geneSymbol": "CDK13",
      "hgvs": [
        "XM_017012751.2:c.2511T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868240.1:p.Asp837Glu",
        "hgvsWellDefined": "XP_016868240.1:p.Asp837Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829468920",
      "coordinates": [
        {
          "allele": "A",
          "end": 2897,
          "referenceAllele": "T",
          "start": 2896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001733",
      "geneNCBI_id": 8621,
      "geneSymbol": "CDK13",
      "hgvs": [
        "NM_003718.5:c.2511T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003709.3:p.Asp837Glu",
        "hgvsWellDefined": "NP_003709.3:p.Asp837Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666146",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000181839.10:c.2511T>A"
          },
          "RefSeq": {
            "hgvs": "NM_003718.5:c.2511T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000181839.4:p.Asp837Glu"
          },
          "RefSeq": {
            "hgvs": "NP_003709.3:p.Asp837Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}