{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA280404188",
  "communityStandardTitle": [
    "NM_002383.4(MAZ):c.1353C>T (p.Ala451=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.29821471C>T?assembly=hg19",
        "id": "chr16:g.29821471C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.29810150C>T?assembly=hg38",
        "id": "chr16:g.29810150C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/777594577",
        "rs": 777594577
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-29821471-C-T?dataset=gnomad_r2_1",
        "id": "16-29821471-C-T",
        "variant": "16:29821471 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-29810150-C-T?dataset=gnomad_r4",
        "id": "16-29810150-C-T",
        "variant": "16:29810150 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 29810150,
          "referenceAllele": "C",
          "start": 29810149
        }
      ],
      "hgvs": [
        "NC_000016.10:g.29810150C>T",
        "CM000678.2:g.29810150C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 29821471,
          "referenceAllele": "C",
          "start": 29821470
        }
      ],
      "hgvs": [
        "NC_000016.9:g.29821471C>T",
        "CM000678.1:g.29821471C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 29728972,
          "referenceAllele": "C",
          "start": 29728971
        }
      ],
      "hgvs": [
        "NC_000016.8:g.29728972C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3063,
          "referenceAllele": "C",
          "start": 3062
        }
      ],
      "hgvs": [
        "NG_032039.1:g.3063C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005101"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1751,
          "referenceAllele": "C",
          "start": 1750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "ENST00000219782.11:c.*96C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219782.6:n.*96C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904294"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1526,
          "referenceAllele": "C",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "ENST00000322945.11:c.1353C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313362.6:p.Ala451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746527",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000322945.11:c.1353C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002383.4:c.1353C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313362.6:p.Ala451="
          },
          "RefSeq": {
            "hgvs": "NP_002374.2:p.Ala451="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1684,
          "referenceAllele": "C",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "ENST00000219782.10:c.*96C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219782.6:n.*96C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "ENST00000322945.10:c.1353C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313362.6:p.Ala451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1323,
          "referenceAllele": "C",
          "start": 1322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "ENST00000545521.5:c.1284C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443956.1:p.Ala428="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 556,
          "referenceAllele": "C",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "ENST00000561855.1:c.*247C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456179.1:n.*247C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 590,
          "referenceAllele": "C",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "ENST00000562337.5:c.438C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455726.1:p.Ala146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376726"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 378,
          "referenceAllele": "C",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "ENST00000563012.1:c.378C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455913.1:p.Ala126="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377149"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 453,
          "referenceAllele": "C",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "ENST00000563402.1:c.322C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457310.1:p.Pro108Ser",
        "hgvsWellDefined": "ENSP00000457310.1:p.Pro108Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 396,
          "referenceAllele": "C",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "ENST00000565777.1:n.396C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378966"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "ENST00000566906.6:c.316C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461174.1:p.Pro106Ser",
        "hgvsWellDefined": "ENSP00000461174.1:p.Pro106Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 615,
          "referenceAllele": "C",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "ENST00000568282.1:c.*92C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458201.1:n.*92C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 364,
          "referenceAllele": "C",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "ENST00000568411.5:c.364C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "referenceAllele": "C",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "ENST00000568544.5:c.156C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455473.1:p.Ala52="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 762,
          "referenceAllele": "C",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "ENST00000616501.4:c.678C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480440.1:p.Ala226="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1743,
          "referenceAllele": "C",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "NM_001042539.2:c.*96C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036004.1:n.*96C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009745"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1333,
          "referenceAllele": "C",
          "start": 1332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "NM_001276275.1:c.1284C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263204.1:p.Ala428="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020851"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 603,
          "referenceAllele": "C",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "NM_001276276.1:c.438C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263205.1:p.Ala146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020852"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083191731",
      "coordinates": [
        {
          "allele": "T",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "NM_002383.3:c.1353C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002374.2:p.Ala451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 667,
          "referenceAllele": "C",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "NR_074080.1:n.667C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1571,
          "referenceAllele": "C",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "XM_006721047.2:c.*96C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721110.1:n.*96C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073925"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1573,
          "referenceAllele": "C",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "XM_006721047.4:c.*96C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721110.1:n.*96C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540223"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2042,
          "referenceAllele": "C",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "XR_002957805.1:n.2042C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603934"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1817,
          "referenceAllele": "C",
          "start": 1816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "XR_002957806.1:n.1817C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 864,
          "referenceAllele": "G",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056029",
      "geneNCBI_id": 112268170,
      "geneSymbol": "MVP-DT",
      "hgvs": [
        "XR_002957880.1:n.864G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604008"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083191731",
      "coordinates": [
        {
          "allele": "T",
          "end": 1526,
          "referenceAllele": "C",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "NM_002383.4:c.1353C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002374.2:p.Ala451="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665495",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000322945.11:c.1353C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002383.4:c.1353C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000313362.6:p.Ala451="
          },
          "RefSeq": {
            "hgvs": "NP_002374.2:p.Ala451="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1751,
          "referenceAllele": "C",
          "start": 1750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "NM_001042539.3:c.*96C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036004.1:n.*96C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1305,
          "referenceAllele": "C",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "NM_001276275.2:c.1284C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263204.1:p.Ala428="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 611,
          "referenceAllele": "C",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "NM_001276276.2:c.438C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001263205.1:p.Ala146="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681289"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 675,
          "referenceAllele": "C",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006914",
      "geneNCBI_id": 4150,
      "geneSymbol": "MAZ",
      "hgvs": [
        "NR_074080.2:n.675C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702795"
    }
  ],
  "type": "nucleotide"
}