{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342753343",
  "communityStandardTitle": [
    "NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=804879[alleleid]",
        "alleleId": 804879,
        "preferredName": "NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/816680",
        "RCV": [
          "RCV001007616",
          "RCV001811621"
        ],
        "variationId": 816680
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.155264060T>G?assembly=hg19",
        "id": "chr1:g.155264060T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.155294269T>G?assembly=hg38",
        "id": "chr1:g.155294269T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1358047518",
        "rs": 1358047518
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-155294269-T-G?dataset=gnomad_r3",
        "id": "1-155294269-T-G",
        "variant": "1:155294269 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-155294269-T-G?dataset=gnomad_r4",
        "id": "1-155294269-T-G",
        "variant": "1:155294269 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 155294269,
          "referenceAllele": "T",
          "start": 155294268
        }
      ],
      "hgvs": [
        "NC_000001.11:g.155294269T>G",
        "CM000663.2:g.155294269T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 155264060,
          "referenceAllele": "T",
          "start": 155264059
        }
      ],
      "hgvs": [
        "NC_000001.10:g.155264060T>G",
        "CM000663.1:g.155264060T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 153530684,
          "referenceAllele": "T",
          "start": 153530683
        }
      ],
      "hgvs": [
        "NC_000001.9:g.153530684T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12166,
          "referenceAllele": "A",
          "start": 12165
        }
      ],
      "hgvs": [
        "NG_011677.1:g.12166A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001893"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1125,
          "referenceAllele": "A",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "ENST00000342741.6:c.1082A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339933.4:p.Asn361Thr",
        "hgvsWellDefined": "ENSP00000339933.4:p.Asn361Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748088",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342741.6:c.1082A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000298.6:c.1082A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339933.4:p.Asn361Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000289.1:p.Asn361Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1121,
          "referenceAllele": "A",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "ENST00000342741.4:c.1082A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339933.4:p.Asn361Thr",
        "hgvsWellDefined": "ENSP00000339933.4:p.Asn361Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261622"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1103,
          "referenceAllele": "A",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "ENST00000392414.7:c.989A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376214.3:p.Asn330Thr",
        "hgvsWellDefined": "ENSP00000376214.3:p.Asn330Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275080"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915959585",
      "coordinates": [
        {
          "allele": "C",
          "end": 1121,
          "referenceAllele": "A",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "NM_000298.5:c.1082A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000289.1:p.Asn361Thr",
        "hgvsWellDefined": "NP_000289.1:p.Asn361Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830405397",
      "coordinates": [
        {
          "allele": "C",
          "end": 1103,
          "referenceAllele": "A",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "NM_181871.3:c.989A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_870986.1:p.Asn330Thr",
        "hgvsWellDefined": "NP_870986.1:p.Asn330Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043912"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1259,
          "referenceAllele": "A",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "XM_005245266.3:c.1241A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245323.1:p.Asn414Thr",
        "hgvsWellDefined": "XP_005245323.1:p.Asn414Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057155"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1011,
          "referenceAllele": "A",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "XM_006711386.2:c.890A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711449.1:p.Asn297Thr",
        "hgvsWellDefined": "XP_006711449.1:p.Asn297Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069106"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1259,
          "referenceAllele": "A",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "XM_011509639.1:c.1241A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507941.1:p.Asn414Thr",
        "hgvsWellDefined": "XP_011507941.1:p.Asn414Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076906"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1054,
          "referenceAllele": "A",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "XM_011509640.1:c.890A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507942.1:p.Asn297Thr",
        "hgvsWellDefined": "XP_011507942.1:p.Asn297Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076907"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915959585",
      "coordinates": [
        {
          "allele": "C",
          "end": 1125,
          "referenceAllele": "A",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "NM_000298.6:c.1082A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000289.1:p.Asn361Thr",
        "hgvsWellDefined": "NP_000289.1:p.Asn361Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510777",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342741.6:c.1082A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000298.6:c.1082A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339933.4:p.Asn361Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000289.1:p.Asn361Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1038,
          "referenceAllele": "A",
          "start": 1037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "XM_006711386.4:c.890A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711449.1:p.Asn297Thr",
        "hgvsWellDefined": "XP_006711449.1:p.Asn297Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537985"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1067,
          "referenceAllele": "A",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "XM_011509640.3:c.890A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507942.1:p.Asn297Thr",
        "hgvsWellDefined": "XP_011507942.1:p.Asn297Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1103,
          "referenceAllele": "A",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "XM_017001493.1:c.1082A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856982.1:p.Asn361Thr",
        "hgvsWellDefined": "XP_016856982.1:p.Asn361Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830405397",
      "coordinates": [
        {
          "allele": "C",
          "end": 1054,
          "referenceAllele": "A",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "NM_181871.4:c.989A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_870986.1:p.Asn330Thr",
        "hgvsWellDefined": "NP_870986.1:p.Asn330Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701034"
    }
  ],
  "type": "nucleotide"
}