{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA399335266",
  "communityStandardTitle": [
    "NM_001254.4(CDC6):c.1321G>T (p.Val441Phe)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.38457151G>T?assembly=hg19",
        "id": "chr17:g.38457151G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.40300899G>T?assembly=hg38",
        "id": "chr17:g.40300899G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/13706",
        "rs": 13706
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 40300899,
          "referenceAllele": "G",
          "start": 40300898
        }
      ],
      "hgvs": [
        "NC_000017.11:g.40300899G>T",
        "CM000679.2:g.40300899G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 38457151,
          "referenceAllele": "G",
          "start": 38457150
        }
      ],
      "hgvs": [
        "NC_000017.10:g.38457151G>T",
        "CM000679.1:g.38457151G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 35710677,
          "referenceAllele": "G",
          "start": 35710676
        }
      ],
      "hgvs": [
        "NC_000017.9:g.35710677G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18006,
          "referenceAllele": "G",
          "start": 18005
        }
      ],
      "hgvs": [
        "NG_028240.1:g.18006G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004144"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18021,
          "referenceAllele": "G",
          "start": 18020
        }
      ],
      "hgvs": [
        "NG_028240.2:g.18021G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616287"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1546,
          "referenceAllele": "G",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001744",
      "geneNCBI_id": 990,
      "geneSymbol": "CDC6",
      "hgvs": [
        "ENST00000209728.9:c.1321G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000209728.4:p.Val441Phe",
        "hgvsWellDefined": "ENSP00000209728.4:p.Val441Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740193",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000209728.9:c.1321G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001254.4:c.1321G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000209728.4:p.Val441Phe"
          },
          "RefSeq": {
            "hgvs": "NP_001245.1:p.Val441Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10,
          "referenceAllele": "G",
          "start": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001744",
      "geneNCBI_id": 990,
      "geneSymbol": "CDC6",
      "hgvs": [
        "ENST00000648633.1:n.10G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1351,
          "referenceAllele": "G",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001744",
      "geneNCBI_id": 990,
      "geneSymbol": "CDC6",
      "hgvs": [
        "ENST00000649662.1:c.1321G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497345.1:p.Val441Phe",
        "hgvsWellDefined": "ENSP00000497345.1:p.Val441Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770665"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1792,
          "referenceAllele": "G",
          "start": 1791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001744",
      "geneNCBI_id": 990,
      "geneSymbol": "CDC6",
      "hgvs": [
        "ENST00000209728.8:c.1321G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000209728.4:p.Val441Phe",
        "hgvsWellDefined": "ENSP00000209728.4:p.Val441Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247848"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083949417",
      "coordinates": [
        {
          "allele": "T",
          "end": 1531,
          "referenceAllele": "G",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001744",
      "geneNCBI_id": 990,
      "geneSymbol": "CDC6",
      "hgvs": [
        "NM_001254.3:c.1321G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245.1:p.Val441Phe",
        "hgvsWellDefined": "NP_001245.1:p.Val441Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1856,
          "referenceAllele": "G",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001744",
      "geneNCBI_id": 990,
      "geneSymbol": "CDC6",
      "hgvs": [
        "XM_011525541.1:c.1441G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523843.1:p.Val481Phe",
        "hgvsWellDefined": "XP_011523843.1:p.Val481Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1680,
          "referenceAllele": "G",
          "start": 1679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001744",
      "geneNCBI_id": 990,
      "geneSymbol": "CDC6",
      "hgvs": [
        "XM_011525542.1:c.1441G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523844.1:p.Val481Phe",
        "hgvsWellDefined": "XP_011523844.1:p.Val481Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092661"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083949417",
      "coordinates": [
        {
          "allele": "T",
          "end": 1546,
          "referenceAllele": "G",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001744",
      "geneNCBI_id": 990,
      "geneSymbol": "CDC6",
      "hgvs": [
        "NM_001254.4:c.1321G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245.1:p.Val441Phe",
        "hgvsWellDefined": "NP_001245.1:p.Val441Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511944",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000209728.9:c.1321G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001254.4:c.1321G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000209728.4:p.Val441Phe"
          },
          "RefSeq": {
            "hgvs": "NP_001245.1:p.Val441Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1667,
          "referenceAllele": "G",
          "start": 1666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001744",
      "geneNCBI_id": 990,
      "geneSymbol": "CDC6",
      "hgvs": [
        "XM_011525541.2:c.1441G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523843.1:p.Val481Phe",
        "hgvsWellDefined": "XP_011523843.1:p.Val481Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547930"
    }
  ],
  "type": "nucleotide"
}