{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA390969409",
  "communityStandardTitle": [
    "NM_003403.5(YY1):c.1112G>A (p.Arg371His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2415663[alleleid]",
        "alleleId": 2415663,
        "preferredName": "NM_003403.5(YY1):c.1112G>A (p.Arg371His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2441948",
        "RCV": [
          "RCV003148265"
        ],
        "variationId": 2441948
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.100743804G>A?assembly=hg19",
        "id": "chr14:g.100743804G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.100277467G>A?assembly=hg38",
        "id": "chr14:g.100277467G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2549139334",
        "rs": 2549139334
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 100277467,
          "referenceAllele": "G",
          "start": 100277466
        }
      ],
      "hgvs": [
        "NC_000014.9:g.100277467G>A",
        "CM000676.2:g.100277467G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 100743804,
          "referenceAllele": "G",
          "start": 100743803
        }
      ],
      "hgvs": [
        "NC_000014.8:g.100743804G>A",
        "CM000676.1:g.100743804G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 99813557,
          "referenceAllele": "G",
          "start": 99813556
        }
      ],
      "hgvs": [
        "NC_000014.7:g.99813557G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 43703,
          "referenceAllele": "G",
          "start": 43702
        }
      ],
      "hgvs": [
        "NG_046908.1:g.43703G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616445"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1161,
          "referenceAllele": "G",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012856",
      "geneNCBI_id": 7528,
      "geneSymbol": "YY1",
      "hgvs": [
        "ENST00000704024.1:n.1161G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS912136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 905,
          "referenceAllele": "G",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012856",
      "geneNCBI_id": 7528,
      "geneSymbol": "YY1",
      "hgvs": [
        "ENST00000704485.1:c.350G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515913.1:p.Arg117His",
        "hgvsWellDefined": "ENSP00000515913.1:p.Arg117His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1213,
          "referenceAllele": "G",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012856",
      "geneNCBI_id": 7528,
      "geneSymbol": "YY1",
      "hgvs": [
        "ENST00000262238.10:c.1112G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262238.4:p.Arg371His",
        "hgvsWellDefined": "ENSP00000262238.4:p.Arg371His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262238.10:c.1112G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003403.5:c.1112G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262238.4:p.Arg371His"
          },
          "RefSeq": {
            "hgvs": "NP_003394.1:p.Arg371His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 602,
          "referenceAllele": "G",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012856",
      "geneNCBI_id": 7528,
      "geneSymbol": "YY1",
      "hgvs": [
        "ENST00000651219.1:c.602G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498329.1:n.602G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1372,
          "referenceAllele": "G",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012856",
      "geneNCBI_id": 7528,
      "geneSymbol": "YY1",
      "hgvs": [
        "ENST00000262238.8:c.1112G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262238.4:p.Arg371His",
        "hgvsWellDefined": "ENSP00000262238.4:p.Arg371His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250966"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 500,
          "referenceAllele": "G",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012856",
      "geneNCBI_id": 7528,
      "geneSymbol": "YY1",
      "hgvs": [
        "ENST00000554579.1:n.500G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012856",
      "geneNCBI_id": 7528,
      "geneSymbol": "YY1",
      "hgvs": [
        "ENST00000554804.1:c.439G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370922"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1739,
          "referenceAllele": "G",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012856",
      "geneNCBI_id": 7528,
      "geneSymbol": "YY1",
      "hgvs": [
        "ENST00000623799.1:n.1739G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS406170"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580291522",
      "coordinates": [
        {
          "allele": "A",
          "end": 1592,
          "referenceAllele": "G",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012856",
      "geneNCBI_id": 7528,
      "geneSymbol": "YY1",
      "hgvs": [
        "NM_003403.4:c.1112G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003394.1:p.Arg371His",
        "hgvsWellDefined": "NP_003394.1:p.Arg371His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028647"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580291522",
      "coordinates": [
        {
          "allele": "A",
          "end": 1213,
          "referenceAllele": "G",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012856",
      "geneNCBI_id": 7528,
      "geneSymbol": "YY1",
      "hgvs": [
        "NM_003403.5:c.1112G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003394.1:p.Arg371His",
        "hgvsWellDefined": "NP_003394.1:p.Arg371His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695817",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262238.10:c.1112G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003403.5:c.1112G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262238.4:p.Arg371His"
          },
          "RefSeq": {
            "hgvs": "NP_003394.1:p.Arg371His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}