{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA487885602",
  "communityStandardTitle": [
    "NM_003403.5(YY1):c.1062G>A (p.Gln354=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1708577[alleleid]",
        "alleleId": 1708577,
        "preferredName": "NM_003403.5(YY1):c.1062G>A (p.Gln354=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1710183",
        "RCV": [
          "RCV002291110"
        ],
        "variationId": 1710183
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.100742985G>A?assembly=hg19",
        "id": "chr14:g.100742985G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2549138621",
        "rs": 2549138621
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 100276648,
          "referenceAllele": "G",
          "start": 100276647
        }
      ],
      "hgvs": [
        "NC_000014.9:g.100276648G>A",
        "CM000676.2:g.100276648G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 100742985,
          "referenceAllele": "G",
          "start": 100742984
        }
      ],
      "hgvs": [
        "NC_000014.8:g.100742985G>A",
        "CM000676.1:g.100742985G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 99812738,
          "referenceAllele": "G",
          "start": 99812737
        }
      ],
      "hgvs": [
        "NC_000014.7:g.99812738G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42884,
          "referenceAllele": "G",
          "start": 42883
        }
      ],
      "hgvs": [
        "NG_046908.1:g.42884G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616445"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1111,
          "referenceAllele": "G",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012856",
      "geneNCBI_id": 7528,
      "geneSymbol": "YY1",
      "hgvs": [
        "ENST00000704024.1:n.1111G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS912136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 855,
          "referenceAllele": "G",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012856",
      "geneNCBI_id": 7528,
      "geneSymbol": "YY1",
      "hgvs": [
        "ENST00000704485.1:c.300G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515913.1:p.Gln100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1163,
          "referenceAllele": "G",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012856",
      "geneNCBI_id": 7528,
      "geneSymbol": "YY1",
      "hgvs": [
        "ENST00000262238.10:c.1062G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262238.4:p.Gln354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262238.10:c.1062G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003403.5:c.1062G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262238.4:p.Gln354="
          },
          "RefSeq": {
            "hgvs": "NP_003394.1:p.Gln354="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 552,
          "referenceAllele": "G",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012856",
      "geneNCBI_id": 7528,
      "geneSymbol": "YY1",
      "hgvs": [
        "ENST00000651219.1:c.552G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498329.1:n.552G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1322,
          "referenceAllele": "G",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012856",
      "geneNCBI_id": 7528,
      "geneSymbol": "YY1",
      "hgvs": [
        "ENST00000262238.8:c.1062G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262238.4:p.Gln354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250966"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 450,
          "referenceAllele": "G",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012856",
      "geneNCBI_id": 7528,
      "geneSymbol": "YY1",
      "hgvs": [
        "ENST00000554579.1:n.450G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 389,
          "endIntronDirection": "-",
          "endIntronOffset": 769,
          "referenceAllele": "G",
          "start": 389,
          "startIntronDirection": "-",
          "startIntronOffset": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012856",
      "geneNCBI_id": 7528,
      "geneSymbol": "YY1",
      "hgvs": [
        "ENST00000554804.1:c.390-770G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370922"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 920,
          "referenceAllele": "G",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012856",
      "geneNCBI_id": 7528,
      "geneSymbol": "YY1",
      "hgvs": [
        "ENST00000623799.1:n.920G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406170"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829455148",
      "coordinates": [
        {
          "allele": "A",
          "end": 1542,
          "referenceAllele": "G",
          "start": 1541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012856",
      "geneNCBI_id": 7528,
      "geneSymbol": "YY1",
      "hgvs": [
        "NM_003403.4:c.1062G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003394.1:p.Gln354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028647"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829455148",
      "coordinates": [
        {
          "allele": "A",
          "end": 1163,
          "referenceAllele": "G",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012856",
      "geneNCBI_id": 7528,
      "geneSymbol": "YY1",
      "hgvs": [
        "NM_003403.5:c.1062G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003394.1:p.Gln354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695817",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262238.10:c.1062G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003403.5:c.1062G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262238.4:p.Gln354="
          },
          "RefSeq": {
            "hgvs": "NP_003394.1:p.Gln354="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}