{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2424682951",
  "communityStandardTitle": [
    "NM_000397.4(CYBB):c.907C= (p.His303=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137854595",
        "rs": 137854595
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 37803886,
          "referenceAllele": "C",
          "start": 37803885
        }
      ],
      "hgvs": [
        "NC_000023.11:g.37803886C=",
        "CM000685.2:g.37803886C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 37663139,
          "referenceAllele": "C",
          "start": 37663138
        }
      ],
      "hgvs": [
        "NC_000023.10:g.37663139C=",
        "CM000685.1:g.37663139C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 37548083,
          "referenceAllele": "C",
          "start": 37548082
        }
      ],
      "hgvs": [
        "NC_000023.9:g.37548083C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 28870,
          "referenceAllele": "C",
          "start": 28869
        }
      ],
      "hgvs": [
        "NG_009065.1:g.28870C=",
        "LRG_53:g.28870C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001407"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 821,
          "referenceAllele": "C",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002578",
      "geneNCBI_id": 1536,
      "geneSymbol": "CYBB",
      "hgvs": [
        "ENST00000696170.1:c.*416C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512461.1:n.*416C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907644"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 830,
          "referenceAllele": "C",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002578",
      "geneNCBI_id": 1536,
      "geneSymbol": "CYBB",
      "hgvs": [
        "ENST00000696171.1:c.811C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512462.1:p.His271="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 926,
          "referenceAllele": "C",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002578",
      "geneNCBI_id": 1536,
      "geneSymbol": "CYBB",
      "hgvs": [
        "ENST00000378588.5:c.907C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367851.4:p.His303="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752108",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378588.5:c.907C="
          },
          "RefSeq": {
            "hgvs": "NM_000397.4:c.907C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367851.4:p.His303="
          },
          "RefSeq": {
            "hgvs": "NP_000388.2:p.His303="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 974,
          "referenceAllele": "C",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002578",
      "geneNCBI_id": 1536,
      "geneSymbol": "CYBB",
      "hgvs": [
        "ENST00000378588.4:c.907C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367851.4:p.His303="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272101"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 278,
          "endIntronDirection": "+",
          "endIntronOffset": 377886,
          "referenceAllele": "C",
          "start": 278,
          "startIntronDirection": "+",
          "startIntronOffset": 377885
        }
      ],
      "hgvs": [
        "ENST00000465127.1:c.171+377886C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417050.1:n.171+377886C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308795"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 332,
          "referenceAllele": "C",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002578",
      "geneNCBI_id": 1536,
      "geneSymbol": "CYBB",
      "hgvs": [
        "ENST00000492288.1:n.332C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329703"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063196343",
      "coordinates": [
        {
          "allele": "C",
          "end": 968,
          "referenceAllele": "C",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002578",
      "geneNCBI_id": 1536,
      "geneSymbol": "CYBB",
      "hgvs": [
        "NM_000397.3:c.907C=",
        "LRG_53t1:c.907C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000388.2:p.His303="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006458"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1007,
          "referenceAllele": "C",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002578",
      "geneNCBI_id": 1536,
      "geneSymbol": "CYBB",
      "hgvs": [
        "XM_011543890.1:c.601C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011542192.1:p.His201="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110803"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063196343",
      "coordinates": [
        {
          "allele": "C",
          "end": 926,
          "referenceAllele": "C",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002578",
      "geneNCBI_id": 1536,
      "geneSymbol": "CYBB",
      "hgvs": [
        "NM_000397.4:c.907C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000388.2:p.His303="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674826",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378588.5:c.907C="
          },
          "RefSeq": {
            "hgvs": "NM_000397.4:c.907C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367851.4:p.His303="
          },
          "RefSeq": {
            "hgvs": "NP_000388.2:p.His303="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}