{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2428298316",
  "communityStandardTitle": [
    "NM_006579.3(EBP):c.440G= (p.Arg147=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28935174",
        "rs": 28935174
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 48527256,
          "referenceAllele": "G",
          "start": 48527255
        }
      ],
      "hgvs": [
        "NC_000023.11:g.48527256G=",
        "CM000685.2:g.48527256G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 48385644,
          "referenceAllele": "G",
          "start": 48385643
        }
      ],
      "hgvs": [
        "NC_000023.10:g.48385644G=",
        "CM000685.1:g.48385644G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 48270588,
          "referenceAllele": "G",
          "start": 48270587
        }
      ],
      "hgvs": [
        "NC_000023.9:g.48270588G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10481,
          "referenceAllele": "G",
          "start": 10480
        }
      ],
      "hgvs": [
        "NG_007452.1:g.10481G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000579"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 613,
          "referenceAllele": "G",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003133",
      "geneNCBI_id": 10682,
      "geneSymbol": "EBP",
      "hgvs": [
        "ENST00000495186.6:c.440G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417052.1:p.Arg147="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757794",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000495186.6:c.440G="
          },
          "RefSeq": {
            "hgvs": "NM_006579.3:c.440G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417052.1:p.Arg147="
          },
          "RefSeq": {
            "hgvs": "NP_006570.1:p.Arg147="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 615,
          "referenceAllele": "G",
          "start": 614
        }
      ],
      "hgvs": [
        "ENST00000651615.1:c.440G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498524.1:p.Arg147="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771771"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 398,
          "referenceAllele": "G",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003133",
      "geneNCBI_id": 10682,
      "geneSymbol": "EBP",
      "hgvs": [
        "ENST00000276096.10:n.398G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS252657"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 673,
          "referenceAllele": "G",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003133",
      "geneNCBI_id": 10682,
      "geneSymbol": "EBP",
      "hgvs": [
        "ENST00000446158.5:c.440G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390031.1:p.Arg147="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298613"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 279,
          "referenceAllele": "G",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003133",
      "geneNCBI_id": 10682,
      "geneSymbol": "EBP",
      "hgvs": [
        "ENST00000466461.1:n.279G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309827"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1263,
          "referenceAllele": "G",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003133",
      "geneNCBI_id": 10682,
      "geneSymbol": "EBP",
      "hgvs": [
        "ENST00000495186.5:c.440G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417052.1:p.Arg147="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331940"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 561,
          "referenceAllele": "G",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003133",
      "geneNCBI_id": 10682,
      "geneSymbol": "EBP",
      "hgvs": [
        "ENST00000498425.1:n.561G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334436"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063190849",
      "coordinates": [
        {
          "allele": "G",
          "end": 645,
          "referenceAllele": "G",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003133",
      "geneNCBI_id": 10682,
      "geneSymbol": "EBP",
      "hgvs": [
        "NM_006579.2:c.440G="
      ],
      "proteinEffect": {
        "hgvs": "NP_006570.1:p.Arg147="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031581"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063190849",
      "coordinates": [
        {
          "allele": "G",
          "end": 613,
          "referenceAllele": "G",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003133",
      "geneNCBI_id": 10682,
      "geneSymbol": "EBP",
      "hgvs": [
        "NM_006579.3:c.440G="
      ],
      "proteinEffect": {
        "hgvs": "NP_006570.1:p.Arg147="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667528",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000495186.6:c.440G="
          },
          "RefSeq": {
            "hgvs": "NM_006579.3:c.440G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417052.1:p.Arg147="
          },
          "RefSeq": {
            "hgvs": "NP_006570.1:p.Arg147="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}