{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA251581",
  "communityStandardTitle": [
    "NM_001109809.5(ZFP57):c.1372C>G (p.His458Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15757[alleleid]",
        "alleleId": 15757,
        "preferredName": "NM_001109809.5(ZFP57):c.1372C>G (p.His458Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/718",
        "RCV": [
          "RCV000000754"
        ],
        "variationId": 718
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.29640516G>C?assembly=hg19",
        "id": "chr6:g.29640516G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.29672739G>C?assembly=hg38",
        "id": "chr6:g.29672739G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/79020217",
        "rs": 79020217
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 29672739,
          "referenceAllele": "G",
          "start": 29672738
        }
      ],
      "hgvs": [
        "NC_000006.12:g.29672739G>C",
        "CM000668.2:g.29672739G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 29640516,
          "referenceAllele": "G",
          "start": 29640515
        }
      ],
      "hgvs": [
        "NC_000006.11:g.29640516G>C",
        "CM000668.1:g.29640516G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 29748495,
          "referenceAllele": "G",
          "start": 29748494
        }
      ],
      "hgvs": [
        "NC_000006.10:g.29748495G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9416,
          "referenceAllele": "C",
          "start": 9415
        }
      ],
      "hgvs": [
        "NG_013045.1:g.9416C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 20759,
          "referenceAllele": "G",
          "start": 20758
        }
      ],
      "hgvs": [
        "NG_031873.1:g.20759G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005006"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1826,
          "referenceAllele": "C",
          "start": 1825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018791",
      "geneNCBI_id": 346171,
      "geneSymbol": "ZFP57",
      "hgvs": [
        "ENST00000376883.2:c.1372C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366080.2:p.His458Asp",
        "hgvsWellDefined": "ENSP00000366080.2:p.His458Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751829",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376883.2:c.1372C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001109809.5:c.1372C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366080.2:p.His458Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001103279.2:p.His458Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1343,
          "referenceAllele": "C",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018791",
      "geneNCBI_id": 346171,
      "geneSymbol": "ZFP57",
      "hgvs": [
        "ENST00000488757.6:c.1156C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418259.2:p.His386Asp",
        "hgvsWellDefined": "ENSP00000418259.2:p.His386Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757599"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1120,
          "referenceAllele": "C",
          "start": 1119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018791",
      "geneNCBI_id": 346171,
      "geneSymbol": "ZFP57",
      "hgvs": [
        "ENST00000376881.4:c.1120C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366078.4:p.His374Asp",
        "hgvsWellDefined": "ENSP00000366078.4:p.His374Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271354"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1724,
          "referenceAllele": "C",
          "start": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018791",
      "geneNCBI_id": 346171,
      "geneSymbol": "ZFP57",
      "hgvs": [
        "ENST00000376883.1:c.1312C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366080.1:p.His438Asp",
        "hgvsWellDefined": "ENSP00000366080.1:p.His438Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271355"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1523,
          "referenceAllele": "C",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018791",
      "geneNCBI_id": 346171,
      "geneSymbol": "ZFP57",
      "hgvs": [
        "ENST00000488757.5:c.1372C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418259.1:p.His458Asp",
        "hgvsWellDefined": "ENSP00000418259.1:p.His458Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326966"
    },
    {
      "@id": "http://reg.genome.network/allele/PA251582",
      "coordinates": [
        {
          "allele": "G",
          "end": 1523,
          "referenceAllele": "C",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018791",
      "geneNCBI_id": 346171,
      "geneSymbol": "ZFP57",
      "hgvs": [
        "NM_001109809.2:c.1372C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001103279.2:p.His458Asp",
        "hgvsWellDefined": "NP_001103279.2:p.His458Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011142"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1334,
          "referenceAllele": "C",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018791",
      "geneNCBI_id": 346171,
      "geneSymbol": "ZFP57",
      "hgvs": [
        "XM_006715087.2:c.1156C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715150.1:p.His386Asp",
        "hgvsWellDefined": "XP_006715150.1:p.His386Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1820,
          "referenceAllele": "C",
          "start": 1819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018791",
      "geneNCBI_id": 346171,
      "geneSymbol": "ZFP57",
      "hgvs": [
        "XM_011514570.1:c.1372C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512872.1:p.His458Asp",
        "hgvsWellDefined": "XP_011512872.1:p.His458Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081795"
    },
    {
      "@id": "http://reg.genome.network/allele/PA251582",
      "coordinates": [
        {
          "allele": "G",
          "end": 1826,
          "referenceAllele": "C",
          "start": 1825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018791",
      "geneNCBI_id": 346171,
      "geneSymbol": "ZFP57",
      "hgvs": [
        "NM_001109809.3:c.1372C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001103279.2:p.His458Asp",
        "hgvsWellDefined": "NP_001103279.2:p.His458Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511345"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828206211",
      "coordinates": [
        {
          "allele": "G",
          "end": 1340,
          "referenceAllele": "C",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018791",
      "geneNCBI_id": 346171,
      "geneSymbol": "ZFP57",
      "hgvs": [
        "NM_001366333.1:c.1156C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353262.1:p.His386Asp",
        "hgvsWellDefined": "NP_001353262.1:p.His386Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA251582",
      "coordinates": [
        {
          "allele": "G",
          "end": 1826,
          "referenceAllele": "C",
          "start": 1825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018791",
      "geneNCBI_id": 346171,
      "geneSymbol": "ZFP57",
      "hgvs": [
        "NM_001109809.4:c.1372C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001103279.2:p.His458Asp",
        "hgvsWellDefined": "NP_001103279.2:p.His458Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676657"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828206211",
      "coordinates": [
        {
          "allele": "G",
          "end": 1340,
          "referenceAllele": "C",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018791",
      "geneNCBI_id": 346171,
      "geneSymbol": "ZFP57",
      "hgvs": [
        "NM_001366333.2:c.1156C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353262.1:p.His386Asp",
        "hgvsWellDefined": "NP_001353262.1:p.His386Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA251582",
      "coordinates": [
        {
          "allele": "G",
          "end": 1826,
          "referenceAllele": "C",
          "start": 1825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018791",
      "geneNCBI_id": 346171,
      "geneSymbol": "ZFP57",
      "hgvs": [
        "NM_001109809.5:c.1372C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001103279.2:p.His458Asp",
        "hgvsWellDefined": "NP_001103279.2:p.His458Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712089",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376883.2:c.1372C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001109809.5:c.1372C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366080.2:p.His458Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001103279.2:p.His458Asp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}