{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA407752058",
  "communityStandardTitle": [
    "NM_001010879.4(ZIK1):c.231A>G (p.Thr77=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.58101410A>G?assembly=hg19",
        "id": "chr19:g.58101410A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.57590042A>G?assembly=hg38",
        "id": "chr19:g.57590042A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2514287748",
        "rs": 2514287748
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-57590042-A-G?dataset=gnomad_r4",
        "id": "19-57590042-A-G",
        "variant": "19:57590042 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 57590042,
          "referenceAllele": "A",
          "start": 57590041
        }
      ],
      "hgvs": [
        "NC_000019.10:g.57590042A>G",
        "CM000681.2:g.57590042A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 58101410,
          "referenceAllele": "A",
          "start": 58101409
        }
      ],
      "hgvs": [
        "NC_000019.9:g.58101410A>G",
        "CM000681.1:g.58101410A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 62793222,
          "referenceAllele": "A",
          "start": 62793221
        }
      ],
      "hgvs": [
        "NC_000019.8:g.62793222A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 443,
          "referenceAllele": "A",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033104",
      "geneNCBI_id": 284307,
      "geneSymbol": "ZIK1",
      "hgvs": [
        "ENST00000597850.2:c.231A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472867.1:p.Thr77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761433",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000597850.2:c.231A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001010879.4:c.231A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000472867.1:p.Thr77="
          },
          "RefSeq": {
            "hgvs": "NP_001010879.2:p.Thr77="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 162,
          "referenceAllele": "A",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033104",
      "geneNCBI_id": 284307,
      "geneSymbol": "ZIK1",
      "hgvs": [
        "ENST00000307468.4:c.65A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303820.4:p.His22Arg",
        "hgvsWellDefined": "ENSP00000303820.4:p.His22Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255897"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 409,
          "referenceAllele": "A",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033104",
      "geneNCBI_id": 284307,
      "geneSymbol": "ZIK1",
      "hgvs": [
        "ENST00000536878.6:c.192A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438487.1:p.Thr64="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 446,
          "referenceAllele": "A",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033104",
      "geneNCBI_id": 284307,
      "geneSymbol": "ZIK1",
      "hgvs": [
        "ENST00000597850.1:c.231A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472867.1:p.Thr77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396144"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 362,
          "referenceAllele": "A",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033104",
      "geneNCBI_id": 284307,
      "geneSymbol": "ZIK1",
      "hgvs": [
        "ENST00000598689.1:c.150A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469971.1:p.Thr50="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396503"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 512,
          "referenceAllele": "A",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033104",
      "geneNCBI_id": 284307,
      "geneSymbol": "ZIK1",
      "hgvs": [
        "ENST00000599456.1:c.66A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468937.1:p.Thr22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396836"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 564,
          "referenceAllele": "A",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033104",
      "geneNCBI_id": 284307,
      "geneSymbol": "ZIK1",
      "hgvs": [
        "ENST00000600053.5:c.174A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472088.1:p.Thr58="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397111"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085906941",
      "coordinates": [
        {
          "allele": "G",
          "end": 328,
          "referenceAllele": "A",
          "start": 327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033104",
      "geneNCBI_id": 284307,
      "geneSymbol": "ZIK1",
      "hgvs": [
        "NM_001010879.2:c.231A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001010879.2:p.Thr77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008164"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1130,
          "referenceAllele": "A",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033104",
      "geneNCBI_id": 284307,
      "geneSymbol": "ZIK1",
      "hgvs": [
        "XM_005258769.2:c.66A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258826.1:p.Thr22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062170"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 907,
          "referenceAllele": "A",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033104",
      "geneNCBI_id": 284307,
      "geneSymbol": "ZIK1",
      "hgvs": [
        "XM_011526760.1:c.192A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525062.1:p.Thr64="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093859"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 904,
          "referenceAllele": "A",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033104",
      "geneNCBI_id": 284307,
      "geneSymbol": "ZIK1",
      "hgvs": [
        "XM_011526761.1:c.189A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525063.1:p.Thr63="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093860"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1169,
          "referenceAllele": "A",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033104",
      "geneNCBI_id": 284307,
      "geneSymbol": "ZIK1",
      "hgvs": [
        "XM_011526762.1:c.174A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525064.1:p.Thr58="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093861"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 865,
          "referenceAllele": "A",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033104",
      "geneNCBI_id": 284307,
      "geneSymbol": "ZIK1",
      "hgvs": [
        "XM_011526763.1:c.150A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525065.1:p.Thr50="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093862"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 247,
          "referenceAllele": "A",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033104",
      "geneNCBI_id": 284307,
      "geneSymbol": "ZIK1",
      "hgvs": [
        "XM_011526764.1:c.132A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525066.1:p.Thr44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093863"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 249,
          "referenceAllele": "A",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033104",
      "geneNCBI_id": 284307,
      "geneSymbol": "ZIK1",
      "hgvs": [
        "XM_011526765.1:c.123A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525067.1:p.Thr41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093864"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 204,
          "referenceAllele": "A",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033104",
      "geneNCBI_id": 284307,
      "geneSymbol": "ZIK1",
      "hgvs": [
        "XM_011526766.1:c.66A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525068.1:p.Thr22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093865"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 910,
          "referenceAllele": "A",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033104",
      "geneNCBI_id": 284307,
      "geneSymbol": "ZIK1",
      "hgvs": [
        "XM_011526767.1:c.-79A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525069.1:n.-79A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093866"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085906941",
      "coordinates": [
        {
          "allele": "G",
          "end": 612,
          "referenceAllele": "A",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033104",
      "geneNCBI_id": 284307,
      "geneSymbol": "ZIK1",
      "hgvs": [
        "NM_001010879.3:c.231A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001010879.2:p.Thr77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510994"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 573,
          "referenceAllele": "A",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033104",
      "geneNCBI_id": 284307,
      "geneSymbol": "ZIK1",
      "hgvs": [
        "NM_001321145.1:c.192A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308074.1:p.Thr64="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514068"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 796,
          "referenceAllele": "A",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033104",
      "geneNCBI_id": 284307,
      "geneSymbol": "ZIK1",
      "hgvs": [
        "NM_001321146.1:c.66A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308075.1:p.Thr22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514069"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 446,
          "referenceAllele": "A",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033104",
      "geneNCBI_id": 284307,
      "geneSymbol": "ZIK1",
      "hgvs": [
        "NM_001321147.1:c.-79A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308076.1:n.-79A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514070"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1003,
          "referenceAllele": "A",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033104",
      "geneNCBI_id": 284307,
      "geneSymbol": "ZIK1",
      "hgvs": [
        "XM_011526765.2:c.123A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525067.1:p.Thr41="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548399"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 186,
          "referenceAllele": "A",
          "start": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033104",
      "geneNCBI_id": 284307,
      "geneSymbol": "ZIK1",
      "hgvs": [
        "XM_011526766.2:c.66A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525068.1:p.Thr22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 902,
          "referenceAllele": "A",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033104",
      "geneNCBI_id": 284307,
      "geneSymbol": "ZIK1",
      "hgvs": [
        "XM_011526767.3:c.-79A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525069.1:n.-79A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085906941",
      "coordinates": [
        {
          "allele": "G",
          "end": 443,
          "referenceAllele": "A",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033104",
      "geneNCBI_id": 284307,
      "geneSymbol": "ZIK1",
      "hgvs": [
        "NM_001010879.4:c.231A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001010879.2:p.Thr77="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662865",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000597850.2:c.231A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001010879.4:c.231A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000472867.1:p.Thr77="
          },
          "RefSeq": {
            "hgvs": "NP_001010879.2:p.Thr77="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 404,
          "referenceAllele": "A",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033104",
      "geneNCBI_id": 284307,
      "geneSymbol": "ZIK1",
      "hgvs": [
        "NM_001321145.2:c.192A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308074.1:p.Thr64="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685222"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 627,
          "referenceAllele": "A",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033104",
      "geneNCBI_id": 284307,
      "geneSymbol": "ZIK1",
      "hgvs": [
        "NM_001321146.2:c.66A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308075.1:p.Thr22="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 277,
          "referenceAllele": "A",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN033104",
      "geneNCBI_id": 284307,
      "geneSymbol": "ZIK1",
      "hgvs": [
        "NM_001321147.2:c.-79A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308076.1:n.-79A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685224"
    }
  ],
  "type": "nucleotide"
}