{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342908",
  "communityStandardTitle": [
    "NM_002863.5(PYGL):c.1016A>G (p.Asn339Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38457[alleleid]",
        "alleleId": 38457,
        "preferredName": "NM_002863.5(PYGL):c.1016A>G (p.Asn339Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/38367",
        "RCV": [
          "RCV000031853"
        ],
        "variationId": 38367
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.51383436T>C?assembly=hg19",
        "id": "chr14:g.51383436T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.50916718T>C?assembly=hg38",
        "id": "chr14:g.50916718T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/113993976",
        "rs": 113993976
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-50916718-T-C?dataset=gnomad_r4",
        "id": "14-50916718-T-C",
        "variant": "14:50916718 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 50916718,
          "referenceAllele": "T",
          "start": 50916717
        }
      ],
      "hgvs": [
        "NC_000014.9:g.50916718T>C",
        "CM000676.2:g.50916718T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 51383436,
          "referenceAllele": "T",
          "start": 51383435
        }
      ],
      "hgvs": [
        "NC_000014.8:g.51383436T>C",
        "CM000676.1:g.51383436T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 50453186,
          "referenceAllele": "T",
          "start": 50453185
        }
      ],
      "hgvs": [
        "NC_000014.7:g.50453186T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32813,
          "referenceAllele": "A",
          "start": 32812
        }
      ],
      "hgvs": [
        "NG_012796.1:g.32813A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002535"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1096,
          "referenceAllele": "A",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009725",
      "geneNCBI_id": 5836,
      "geneSymbol": "PYGL",
      "hgvs": [
        "ENST00000216392.8:c.1016A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216392.7:p.Asn339Ser",
        "hgvsWellDefined": "ENSP00000216392.7:p.Asn339Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740307",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216392.8:c.1016A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002863.5:c.1016A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216392.7:p.Asn339Ser"
          },
          "RefSeq": {
            "hgvs": "NP_002854.3:p.Asn339Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1349,
          "referenceAllele": "A",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009725",
      "geneNCBI_id": 5836,
      "geneSymbol": "PYGL",
      "hgvs": [
        "ENST00000216392.7:c.1016A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216392.7:p.Asn339Ser",
        "hgvsWellDefined": "ENSP00000216392.7:p.Asn339Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1069,
          "referenceAllele": "A",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009725",
      "geneNCBI_id": 5836,
      "geneSymbol": "PYGL",
      "hgvs": [
        "ENST00000532462.5:c.1016A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431657.1:p.Asn339Ser",
        "hgvsWellDefined": "ENSP00000431657.1:p.Asn339Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357392"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 994,
          "referenceAllele": "A",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009725",
      "geneNCBI_id": 5836,
      "geneSymbol": "PYGL",
      "hgvs": [
        "ENST00000544180.6:c.914A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443787.1:p.Asn305Ser",
        "hgvsWellDefined": "ENSP00000443787.1:p.Asn305Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364423"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825964819",
      "coordinates": [
        {
          "allele": "G",
          "end": 1041,
          "referenceAllele": "A",
          "start": 1040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009725",
      "geneNCBI_id": 5836,
      "geneSymbol": "PYGL",
      "hgvs": [
        "NM_001163940.1:c.914A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157412.1:p.Asn305Ser",
        "hgvsWellDefined": "NP_001157412.1:p.Asn305Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107285",
      "coordinates": [
        {
          "allele": "G",
          "end": 1143,
          "referenceAllele": "A",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009725",
      "geneNCBI_id": 5836,
      "geneSymbol": "PYGL",
      "hgvs": [
        "NM_002863.4:c.1016A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002854.3:p.Asn339Ser",
        "hgvsWellDefined": "NP_002854.3:p.Asn339Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA107285",
      "coordinates": [
        {
          "allele": "G",
          "end": 1096,
          "referenceAllele": "A",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009725",
      "geneNCBI_id": 5836,
      "geneSymbol": "PYGL",
      "hgvs": [
        "NM_002863.5:c.1016A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002854.3:p.Asn339Ser",
        "hgvsWellDefined": "NP_002854.3:p.Asn339Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665758",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216392.8:c.1016A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002863.5:c.1016A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216392.7:p.Asn339Ser"
          },
          "RefSeq": {
            "hgvs": "NP_002854.3:p.Asn339Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825964819",
      "coordinates": [
        {
          "allele": "G",
          "end": 994,
          "referenceAllele": "A",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009725",
      "geneNCBI_id": 5836,
      "geneSymbol": "PYGL",
      "hgvs": [
        "NM_001163940.2:c.914A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157412.1:p.Asn305Ser",
        "hgvsWellDefined": "NP_001157412.1:p.Asn305Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678276"
    }
  ],
  "type": "nucleotide"
}