{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8011995",
  "communityStandardTitle": [
    "NM_006662.3(SRCAP):c.5518C>T (p.Arg1840Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1388139[alleleid]",
        "alleleId": 1388139,
        "preferredName": "NM_006662.3(SRCAP):c.5518C>T (p.Arg1840Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1444174",
        "RCV": [
          "RCV001981698",
          "RCV002497831",
          "RCV003355692"
        ],
        "variationId": 1444174
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-30736263-C-T",
        "id": "16-30736263-C-T",
        "variant": "16:30736263 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.30736263C>T?assembly=hg19",
        "id": "chr16:g.30736263C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.30724942C>T?assembly=hg38",
        "id": "chr16:g.30724942C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/531238169",
        "rs": 531238169
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-30736263-C-T?dataset=gnomad_r2_1",
        "id": "16-30736263-C-T",
        "variant": "16:30736263 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-30724942-C-T?dataset=gnomad_r3",
        "id": "16-30724942-C-T",
        "variant": "16:30724942 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-30724942-C-T?dataset=gnomad_r4",
        "id": "16-30724942-C-T",
        "variant": "16:30724942 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 30724942,
          "referenceAllele": "C",
          "start": 30724941
        }
      ],
      "hgvs": [
        "NC_000016.10:g.30724942C>T",
        "CM000678.2:g.30724942C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 30736263,
          "referenceAllele": "C",
          "start": 30736262
        }
      ],
      "hgvs": [
        "NC_000016.9:g.30736263C>T",
        "CM000678.1:g.30736263C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 30643764,
          "referenceAllele": "C",
          "start": 30643763
        }
      ],
      "hgvs": [
        "NC_000016.8:g.30643764C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 30802,
          "referenceAllele": "C",
          "start": 30801
        }
      ],
      "hgvs": [
        "NG_032135.1:g.30802C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005138"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6054,
          "referenceAllele": "C",
          "start": 6053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000411466.7:c.5518C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405186.3:p.Arg1840Trp",
        "hgvsWellDefined": "ENSP00000405186.3:p.Arg1840Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6020,
          "referenceAllele": "C",
          "start": 6019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000706321.1:c.5518C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516346.1:p.Arg1840Trp",
        "hgvsWellDefined": "ENSP00000516346.1:p.Arg1840Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912804"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5873,
          "referenceAllele": "C",
          "start": 5872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000262518.9:c.5518C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262518.4:p.Arg1840Trp",
        "hgvsWellDefined": "ENSP00000262518.4:p.Arg1840Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262518.9:c.5518C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006662.3:c.5518C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262518.4:p.Arg1840Trp"
          },
          "RefSeq": {
            "hgvs": "NP_006653.2:p.Arg1840Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5903,
          "referenceAllele": "C",
          "start": 5902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000262518.8:c.5518C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262518.4:p.Arg1840Trp",
        "hgvsWellDefined": "ENSP00000262518.4:p.Arg1840Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251044"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4987,
          "referenceAllele": "C",
          "start": 4986
        }
      ],
      "hgvs": [
        "ENST00000380361.7:c.4987C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369719.3:p.Arg1663Trp",
        "hgvsWellDefined": "ENSP00000369719.3:p.Arg1663Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4951,
          "referenceAllele": "C",
          "start": 4950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000395059.6:c.4741C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378499.3:p.Arg1581Trp",
        "hgvsWellDefined": "ENSP00000378499.3:p.Arg1581Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276496"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4617,
          "referenceAllele": "C",
          "start": 4616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000483083.3:c.4617C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322638"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573250801",
      "coordinates": [
        {
          "allele": "T",
          "end": 5903,
          "referenceAllele": "C",
          "start": 5902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "NM_006662.2:c.5518C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006653.2:p.Arg1840Trp",
        "hgvsWellDefined": "NP_006653.2:p.Arg1840Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573250801",
      "coordinates": [
        {
          "allele": "T",
          "end": 5873,
          "referenceAllele": "C",
          "start": 5872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "NM_006662.3:c.5518C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006653.2:p.Arg1840Trp",
        "hgvsWellDefined": "NP_006653.2:p.Arg1840Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667564",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262518.9:c.5518C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006662.3:c.5518C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262518.4:p.Arg1840Trp"
          },
          "RefSeq": {
            "hgvs": "NP_006653.2:p.Arg1840Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}