{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341926",
  "communityStandardTitle": [
    "NM_002863.5(PYGL):c.698G>A (p.Gly233Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34191[alleleid]",
        "alleleId": 34191,
        "preferredName": "NM_002863.5(PYGL):c.698G>A (p.Gly233Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21339",
        "RCV": [
          "RCV000020504"
        ],
        "variationId": 21339
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.51387748C>T?assembly=hg19",
        "id": "chr14:g.51387748C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.50921030C>T?assembly=hg38",
        "id": "chr14:g.50921030C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113993975",
        "rs": 113993975
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-51387748-C-T?dataset=gnomad_r2_1",
        "id": "14-51387748-C-T",
        "variant": "14:51387748 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-50921030-C-T?dataset=gnomad_r4",
        "id": "14-50921030-C-T",
        "variant": "14:50921030 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 50921030,
          "referenceAllele": "C",
          "start": 50921029
        }
      ],
      "hgvs": [
        "NC_000014.9:g.50921030C>T",
        "CM000676.2:g.50921030C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 51387748,
          "referenceAllele": "C",
          "start": 51387747
        }
      ],
      "hgvs": [
        "NC_000014.8:g.51387748C>T",
        "CM000676.1:g.51387748C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 50457498,
          "referenceAllele": "C",
          "start": 50457497
        }
      ],
      "hgvs": [
        "NC_000014.7:g.50457498C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 28501,
          "referenceAllele": "G",
          "start": 28500
        }
      ],
      "hgvs": [
        "NG_012796.1:g.28501G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002535"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 778,
          "referenceAllele": "G",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009725",
      "geneNCBI_id": 5836,
      "geneSymbol": "PYGL",
      "hgvs": [
        "ENST00000216392.8:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216392.7:p.Gly233Asp",
        "hgvsWellDefined": "ENSP00000216392.7:p.Gly233Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740307",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216392.8:c.698G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002863.5:c.698G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216392.7:p.Gly233Asp"
          },
          "RefSeq": {
            "hgvs": "NP_002854.3:p.Gly233Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1031,
          "referenceAllele": "G",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009725",
      "geneNCBI_id": 5836,
      "geneSymbol": "PYGL",
      "hgvs": [
        "ENST00000216392.7:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216392.7:p.Gly233Asp",
        "hgvsWellDefined": "ENSP00000216392.7:p.Gly233Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 751,
          "referenceAllele": "G",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009725",
      "geneNCBI_id": 5836,
      "geneSymbol": "PYGL",
      "hgvs": [
        "ENST00000532462.5:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431657.1:p.Gly233Asp",
        "hgvsWellDefined": "ENSP00000431657.1:p.Gly233Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357392"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 676,
          "referenceAllele": "G",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009725",
      "geneNCBI_id": 5836,
      "geneSymbol": "PYGL",
      "hgvs": [
        "ENST00000544180.6:c.596G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443787.1:p.Gly199Asp",
        "hgvsWellDefined": "ENSP00000443787.1:p.Gly199Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364423"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 499,
          "referenceAllele": "G",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009725",
      "geneNCBI_id": 5836,
      "geneSymbol": "PYGL",
      "hgvs": [
        "ENST00000553872.1:n.499G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370196"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825964796",
      "coordinates": [
        {
          "allele": "A",
          "end": 723,
          "referenceAllele": "G",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009725",
      "geneNCBI_id": 5836,
      "geneSymbol": "PYGL",
      "hgvs": [
        "NM_001163940.1:c.596G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157412.1:p.Gly199Asp",
        "hgvsWellDefined": "NP_001157412.1:p.Gly199Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA341927",
      "coordinates": [
        {
          "allele": "A",
          "end": 825,
          "referenceAllele": "G",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009725",
      "geneNCBI_id": 5836,
      "geneSymbol": "PYGL",
      "hgvs": [
        "NM_002863.4:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002854.3:p.Gly233Asp",
        "hgvsWellDefined": "NP_002854.3:p.Gly233Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA341927",
      "coordinates": [
        {
          "allele": "A",
          "end": 778,
          "referenceAllele": "G",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009725",
      "geneNCBI_id": 5836,
      "geneSymbol": "PYGL",
      "hgvs": [
        "NM_002863.5:c.698G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002854.3:p.Gly233Asp",
        "hgvsWellDefined": "NP_002854.3:p.Gly233Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665758",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216392.8:c.698G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002863.5:c.698G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216392.7:p.Gly233Asp"
          },
          "RefSeq": {
            "hgvs": "NP_002854.3:p.Gly233Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825964796",
      "coordinates": [
        {
          "allele": "A",
          "end": 676,
          "referenceAllele": "G",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009725",
      "geneNCBI_id": 5836,
      "geneSymbol": "PYGL",
      "hgvs": [
        "NM_001163940.2:c.596G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157412.1:p.Gly199Asp",
        "hgvsWellDefined": "NP_001157412.1:p.Gly199Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678276"
    }
  ],
  "type": "nucleotide"
}