{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA324554058",
  "communityStandardTitle": [
    "NM_001429.4(EP300):c.4452+18G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1657874[alleleid]",
        "alleleId": 1657874,
        "preferredName": "NM_001429.4(EP300):c.4452+18G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1548506",
        "RCV": [
          "RCV002555431"
        ],
        "variationId": 1548506
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.41566593G>A?assembly=hg19",
        "id": "chr22:g.41566593G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.41170589G>A?assembly=hg38",
        "id": "chr22:g.41170589G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/548353389",
        "rs": 548353389
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-41170589-G-A?dataset=gnomad_r3",
        "id": "22-41170589-G-A",
        "variant": "22:41170589 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-41170589-G-A?dataset=gnomad_r4",
        "id": "22-41170589-G-A",
        "variant": "22:41170589 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 41170589,
          "referenceAllele": "G",
          "start": 41170588
        }
      ],
      "hgvs": [
        "NC_000022.11:g.41170589G>A",
        "CM000684.2:g.41170589G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 41566593,
          "referenceAllele": "G",
          "start": 41566592
        }
      ],
      "hgvs": [
        "NC_000022.10:g.41566593G>A",
        "CM000684.1:g.41566593G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 39896539,
          "referenceAllele": "G",
          "start": 39896538
        }
      ],
      "hgvs": [
        "NC_000022.9:g.39896539G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 82980,
          "referenceAllele": "G",
          "start": 82979
        }
      ],
      "hgvs": [
        "NG_009817.1:g.82980G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001654"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4362,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 4362,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "ENST00000703544.1:c.*2372+18G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515365.1:n.*2372+18G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4865,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 4865,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "ENST00000263253.9:c.4452+18G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263253.7:n.4452+18G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742480",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263253.9:c.4452+18G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001429.4:c.4452+18G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263253.7:n.4452+18G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001420.2:n.4452+18G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4374,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 4374,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "ENST00000674155.1:c.4374+18G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501078.1:n.4374+18G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5671,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 5671,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "ENST00000263253.8:c.4452+18G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263253.7:n.4452+18G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251221"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4847,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 4847,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "NM_001429.3:c.4452+18G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001420.2:n.4452+18G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026813"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4572,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 4572,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "XM_006724165.2:c.4374+18G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724228.1:n.4374+18G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075387"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4769,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 4769,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "NM_001362843.1:c.4374+18G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349772.1:n.4374+18G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4865,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 4865,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "NM_001429.4:c.4452+18G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001420.2:n.4452+18G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664985",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263253.9:c.4452+18G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001429.4:c.4452+18G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263253.7:n.4452+18G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001420.2:n.4452+18G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4787,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 4787,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "NM_001362843.2:c.4374+18G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349772.1:n.4374+18G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690558"
    }
  ],
  "type": "nucleotide"
}