{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413935069",
  "communityStandardTitle": [
    "NM_000061.3(BTK):c.494G>A (p.Cys165Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2901980[alleleid]",
        "alleleId": 2901980,
        "preferredName": "NM_000061.3(BTK):c.494G>A (p.Cys165Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2737303",
        "RCV": [
          "RCV003513694"
        ],
        "variationId": 2737303
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.100617575C>T?assembly=hg19",
        "id": "chrX:g.100617575C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.101362587C>T?assembly=hg38",
        "id": "chrX:g.101362587C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2147435884",
        "rs": 2147435884
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 101362587,
          "referenceAllele": "C",
          "start": 101362586
        }
      ],
      "hgvs": [
        "NC_000023.11:g.101362587C>T",
        "CM000685.2:g.101362587C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 100617575,
          "referenceAllele": "C",
          "start": 100617574
        }
      ],
      "hgvs": [
        "NC_000023.10:g.100617575C>T",
        "CM000685.1:g.100617575C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 100504231,
          "referenceAllele": "C",
          "start": 100504230
        }
      ],
      "hgvs": [
        "NC_000023.9:g.100504231C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 28638,
          "referenceAllele": "G",
          "start": 28637
        }
      ],
      "hgvs": [
        "NG_009616.1:g.28638G>A",
        "LRG_128:g.28638G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001613"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 274,
          "referenceAllele": "G",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000464006.2:n.274G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 654,
          "referenceAllele": "G",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000478995.2:n.654G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000488970.2:n.652G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 625,
          "referenceAllele": "G",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695614.1:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512053.1:p.Cys165Tyr",
        "hgvsWellDefined": "ENSP00000512053.1:p.Cys165Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 710,
          "referenceAllele": "G",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695615.1:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512054.1:p.Cys165Tyr",
        "hgvsWellDefined": "ENSP00000512054.1:p.Cys165Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907120"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 644,
          "referenceAllele": "G",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695616.1:c.*339G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512055.1:n.*339G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 646,
          "referenceAllele": "G",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695617.1:c.491G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512056.1:p.Cys164Tyr",
        "hgvsWellDefined": "ENSP00000512056.1:p.Cys164Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 752,
          "referenceAllele": "G",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695618.1:c.*243G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512058.1:n.*243G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 645,
          "referenceAllele": "G",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695619.1:c.*339G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512059.1:n.*339G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 664,
          "referenceAllele": "G",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695620.1:c.*339G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512060.1:n.*339G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907125"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 646,
          "referenceAllele": "G",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695621.1:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512061.1:p.Cys165Tyr",
        "hgvsWellDefined": "ENSP00000512061.1:p.Cys165Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 646,
          "referenceAllele": "G",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695622.1:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512062.1:p.Cys165Tyr",
        "hgvsWellDefined": "ENSP00000512062.1:p.Cys165Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 646,
          "referenceAllele": "G",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695623.1:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512063.1:p.Cys165Tyr",
        "hgvsWellDefined": "ENSP00000512063.1:p.Cys165Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 646,
          "referenceAllele": "G",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695625.1:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512064.1:p.Cys165Tyr",
        "hgvsWellDefined": "ENSP00000512064.1:p.Cys165Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 807,
          "referenceAllele": "G",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000703407.1:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512057.1:p.Cys165Tyr",
        "hgvsWellDefined": "ENSP00000512057.1:p.Cys165Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 654,
          "referenceAllele": "G",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000308731.8:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308176.8:p.Cys165Tyr",
        "hgvsWellDefined": "ENSP00000308176.8:p.Cys165Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745484",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308731.8:c.494G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000061.3:c.494G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308176.8:p.Cys165Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000052.1:p.Cys165Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 658,
          "referenceAllele": "G",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000308731.7:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308176.7:p.Cys165Tyr",
        "hgvsWellDefined": "ENSP00000308176.7:p.Cys165Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256097"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 852,
          "referenceAllele": "G",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000372880.5:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361971.1:p.Cys165Tyr",
        "hgvsWellDefined": "ENSP00000361971.1:p.Cys165Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 229,
          "referenceAllele": "G",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000464006.1:n.229G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307921"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "referenceAllele": "G",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000618050.4:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479125.1:p.Cys165Tyr",
        "hgvsWellDefined": "ENSP00000479125.1:p.Cys165Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403762"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 843,
          "referenceAllele": "G",
          "start": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000621635.4:c.596G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483570.1:p.Cys199Tyr",
        "hgvsWellDefined": "ENSP00000483570.1:p.Cys199Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405360"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825028718",
      "coordinates": [
        {
          "allele": "A",
          "end": 687,
          "referenceAllele": "G",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_000061.2:c.494G>A",
        "LRG_128t1:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000052.1:p.Cys165Tyr",
        "hgvsWellDefined": "NP_000052.1:p.Cys165Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741856132",
      "coordinates": [
        {
          "allele": "A",
          "end": 843,
          "referenceAllele": "G",
          "start": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287344.1:c.596G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274273.1:p.Cys199Tyr",
        "hgvsWellDefined": "NP_001274273.1:p.Cys199Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826742710",
      "coordinates": [
        {
          "allele": "A",
          "end": 852,
          "referenceAllele": "G",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287345.1:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274274.1:p.Cys165Tyr",
        "hgvsWellDefined": "NP_001274274.1:p.Cys165Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023308"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825028718",
      "coordinates": [
        {
          "allele": "A",
          "end": 654,
          "referenceAllele": "G",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_000061.3:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000052.1:p.Cys165Tyr",
        "hgvsWellDefined": "NP_000052.1:p.Cys165Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308731.8:c.494G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000061.3:c.494G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308176.8:p.Cys165Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000052.1:p.Cys165Tyr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741856132",
      "coordinates": [
        {
          "allele": "A",
          "end": 843,
          "referenceAllele": "G",
          "start": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287344.2:c.596G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274273.1:p.Cys199Tyr",
        "hgvsWellDefined": "NP_001274273.1:p.Cys199Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716364"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826742710",
      "coordinates": [
        {
          "allele": "A",
          "end": 819,
          "referenceAllele": "G",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287345.2:c.494G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274274.1:p.Cys165Tyr",
        "hgvsWellDefined": "NP_001274274.1:p.Cys165Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716365"
    }
  ],
  "type": "nucleotide"
}