{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4630353",
  "communityStandardTitle": [
    "NM_001715.3(BLK):c.1048T>C (p.Tyr350His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=610607[alleleid]",
        "alleleId": 610607,
        "preferredName": "NM_001715.3(BLK):c.1048T>C (p.Tyr350His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/619204",
        "RCV": [
          "RCV000758185"
        ],
        "variationId": 619204
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-11418829-T-C",
        "id": "8-11418829-T-C",
        "variant": "8:11418829 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.11418829T>C?assembly=hg19",
        "id": "chr8:g.11418829T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.11561320T>C?assembly=hg38",
        "id": "chr8:g.11561320T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/758750492",
        "rs": 758750492
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-11418829-T-C?dataset=gnomad_r2_1",
        "id": "8-11418829-T-C",
        "variant": "8:11418829 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-11561320-T-C?dataset=gnomad_r4",
        "id": "8-11561320-T-C",
        "variant": "8:11561320 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 11561320,
          "referenceAllele": "T",
          "start": 11561319
        }
      ],
      "hgvs": [
        "NC_000008.11:g.11561320T>C",
        "CM000670.2:g.11561320T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 11418829,
          "referenceAllele": "T",
          "start": 11418828
        }
      ],
      "hgvs": [
        "NC_000008.10:g.11418829T>C",
        "CM000670.1:g.11418829T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 11456238,
          "referenceAllele": "T",
          "start": 11456237
        }
      ],
      "hgvs": [
        "NC_000008.9:g.11456238T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 72309,
          "referenceAllele": "T",
          "start": 72308
        }
      ],
      "hgvs": [
        "NG_023543.1:g.72309T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003874"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 72309,
          "referenceAllele": "T",
          "start": 72308
        }
      ],
      "hgvs": [
        "NG_023543.2:g.72309T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673737"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1156,
          "referenceAllele": "T",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "ENST00000696154.2:n.1156T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914470"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1156,
          "referenceAllele": "T",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "ENST00000696154.1:c.*366T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512445.1:n.*366T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907629"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1254,
          "referenceAllele": "T",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "ENST00000259089.9:c.1048T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259089.4:p.Tyr350His",
        "hgvsWellDefined": "ENSP00000259089.4:p.Tyr350His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741958",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000259089.9:c.1048T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001715.3:c.1048T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000259089.4:p.Tyr350His"
          },
          "RefSeq": {
            "hgvs": "NP_001706.2:p.Tyr350His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1199,
          "referenceAllele": "T",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "ENST00000645242.1:c.835T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494690.1:p.Tyr279His",
        "hgvsWellDefined": "ENSP00000494690.1:p.Tyr279His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768241"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1640,
          "referenceAllele": "T",
          "start": 1639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "ENST00000259089.8:c.1048T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259089.4:p.Tyr350His",
        "hgvsWellDefined": "ENSP00000259089.4:p.Tyr350His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250458"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 988,
          "referenceAllele": "T",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "ENST00000526097.1:n.988T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1127,
          "referenceAllele": "T",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "ENST00000529894.1:c.835T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433663.1:p.Tyr279His",
        "hgvsWellDefined": "ENSP00000433663.1:p.Tyr279His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355230"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913196309",
      "coordinates": [
        {
          "allele": "C",
          "end": 1629,
          "referenceAllele": "T",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "NM_001715.2:c.1048T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001706.2:p.Tyr350His",
        "hgvsWellDefined": "NP_001706.2:p.Tyr350His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027049"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1728,
          "referenceAllele": "T",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "XM_011543824.1:c.1126T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542126.1:p.Tyr376His",
        "hgvsWellDefined": "XP_011542126.1:p.Tyr376His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110737"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1499,
          "referenceAllele": "T",
          "start": 1498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "XM_011543825.1:c.1126T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542127.1:p.Tyr376His",
        "hgvsWellDefined": "XP_011542127.1:p.Tyr376His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110738"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1297,
          "referenceAllele": "T",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "XM_011543826.1:c.1126T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542128.1:p.Tyr376His",
        "hgvsWellDefined": "XP_011542128.1:p.Tyr376His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110739"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1604,
          "referenceAllele": "T",
          "start": 1603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "XM_011543827.1:c.913T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542129.1:p.Tyr305His",
        "hgvsWellDefined": "XP_011542129.1:p.Tyr305His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827315200",
      "coordinates": [
        {
          "allele": "C",
          "end": 1525,
          "referenceAllele": "T",
          "start": 1524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "NM_001330465.1:c.835T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317394.1:p.Tyr279His",
        "hgvsWellDefined": "NP_001317394.1:p.Tyr279His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516843"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1500,
          "referenceAllele": "T",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "XM_011543825.3:c.1126T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542127.1:p.Tyr376His",
        "hgvsWellDefined": "XP_011542127.1:p.Tyr376His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555384"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913196309",
      "coordinates": [
        {
          "allele": "C",
          "end": 1254,
          "referenceAllele": "T",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "NM_001715.3:c.1048T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001706.2:p.Tyr350His",
        "hgvsWellDefined": "NP_001706.2:p.Tyr350His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665131",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000259089.9:c.1048T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001715.3:c.1048T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000259089.4:p.Tyr350His"
          },
          "RefSeq": {
            "hgvs": "NP_001706.2:p.Tyr350His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827315200",
      "coordinates": [
        {
          "allele": "C",
          "end": 1130,
          "referenceAllele": "T",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001057",
      "geneNCBI_id": 640,
      "geneSymbol": "BLK",
      "hgvs": [
        "NM_001330465.2:c.835T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317394.1:p.Tyr279His",
        "hgvsWellDefined": "NP_001317394.1:p.Tyr279His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686957"
    }
  ],
  "type": "nucleotide"
}