{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2575971362",
  "communityStandardTitle": [
    "NM_006662.3(SRCAP):c.6925-19C>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3124895[alleleid]",
        "alleleId": 3124895,
        "preferredName": "NM_006662.3(SRCAP):c.6925-19C>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2968874",
        "RCV": [
          "RCV003829520"
        ],
        "variationId": 2968874
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/752621886",
        "rs": 752621886
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 30736522,
          "referenceAllele": "C",
          "start": 30736521
        }
      ],
      "hgvs": [
        "NC_000016.10:g.30736522C>G",
        "CM000678.2:g.30736522C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 30747843,
          "referenceAllele": "C",
          "start": 30747842
        }
      ],
      "hgvs": [
        "NC_000016.9:g.30747843C>G",
        "CM000678.1:g.30747843C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 30655344,
          "referenceAllele": "C",
          "start": 30655343
        }
      ],
      "hgvs": [
        "NC_000016.8:g.30655344C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 42382,
          "referenceAllele": "C",
          "start": 42381
        }
      ],
      "hgvs": [
        "NG_032135.1:g.42382C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005138"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7460,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "C",
          "start": 7460,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000411466.7:c.6925-19C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405186.3:n.6925-19C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1204,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "C",
          "start": 1204,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "hgvs": [
        "ENST00000704023.1:c.1205-19C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS912135"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7426,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "C",
          "start": 7426,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000706321.1:c.6925-19C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516346.1:n.6925-19C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912804"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7279,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "C",
          "start": 7279,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000262518.9:c.6925-19C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262518.4:n.6925-19C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262518.9:c.6925-19C>G"
          },
          "RefSeq": {
            "hgvs": "NM_006662.3:c.6925-19C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262518.4:n.6925-19C>G"
          },
          "RefSeq": {
            "hgvs": "NP_006653.2:n.6925-19C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7309,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "C",
          "start": 7309,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000262518.8:c.6925-19C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262518.4:n.6925-19C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251044"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6393,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "C",
          "start": 6393,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "hgvs": [
        "ENST00000380361.7:c.6394-19C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369719.3:n.6394-19C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6357,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "C",
          "start": 6357,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000395059.6:c.6148-19C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378499.3:n.6148-19C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276496"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7309,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "C",
          "start": 7309,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "NM_006662.2:c.6925-19C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006653.2:n.6925-19C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031659"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7279,
          "endIntronDirection": "-",
          "endIntronOffset": 18,
          "referenceAllele": "C",
          "start": 7279,
          "startIntronDirection": "-",
          "startIntronOffset": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "NM_006662.3:c.6925-19C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006653.2:n.6925-19C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667564",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262518.9:c.6925-19C>G"
          },
          "RefSeq": {
            "hgvs": "NM_006662.3:c.6925-19C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262518.4:n.6925-19C>G"
          },
          "RefSeq": {
            "hgvs": "NP_006653.2:n.6925-19C>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}