{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA344117443",
  "communityStandardTitle": [
    "NM_001252102.2(KIF21B):c.433G>C (p.Ala145Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1334550[alleleid]",
        "alleleId": 1334550,
        "preferredName": "NM_001252102.2(KIF21B):c.433G>C (p.Ala145Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1342911",
        "RCV": [
          "RCV001842268"
        ],
        "variationId": 1342911
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.200977911C>G?assembly=hg19",
        "id": "chr1:g.200977911C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.201008783C>G?assembly=hg38",
        "id": "chr1:g.201008783C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/368704611",
        "rs": 368704611
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 201008783,
          "referenceAllele": "C",
          "start": 201008782
        }
      ],
      "hgvs": [
        "NC_000001.11:g.201008783C>G",
        "CM000663.2:g.201008783C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 200977911,
          "referenceAllele": "C",
          "start": 200977910
        }
      ],
      "hgvs": [
        "NC_000001.10:g.200977911C>G",
        "CM000663.1:g.200977911C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 199244534,
          "referenceAllele": "C",
          "start": 199244533
        }
      ],
      "hgvs": [
        "NC_000001.9:g.199244534C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 19918,
          "referenceAllele": "G",
          "start": 19917
        }
      ],
      "hgvs": [
        "NG_047130.1:g.19918G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616651"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 764,
          "referenceAllele": "G",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029442",
      "geneNCBI_id": 23046,
      "geneSymbol": "KIF21B",
      "hgvs": [
        "ENST00000461742.7:c.433G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433808.1:p.Ala145Pro",
        "hgvsWellDefined": "ENSP00000433808.1:p.Ala145Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756721",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000461742.7:c.433G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001252102.2:c.433G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000433808.1:p.Ala145Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001239031.1:p.Ala145Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 750,
          "referenceAllele": "G",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029442",
      "geneNCBI_id": 23046,
      "geneSymbol": "KIF21B",
      "hgvs": [
        "ENST00000332129.6:c.433G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328494.2:p.Ala145Pro",
        "hgvsWellDefined": "ENSP00000328494.2:p.Ala145Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259509"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 458,
          "referenceAllele": "G",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029442",
      "geneNCBI_id": 23046,
      "geneSymbol": "KIF21B",
      "hgvs": [
        "ENST00000360529.9:c.433G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353724.5:p.Ala145Pro",
        "hgvsWellDefined": "ENSP00000353724.5:p.Ala145Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265164"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 750,
          "referenceAllele": "G",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029442",
      "geneNCBI_id": 23046,
      "geneSymbol": "KIF21B",
      "hgvs": [
        "ENST00000422435.2:c.433G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411831.2:p.Ala145Pro",
        "hgvsWellDefined": "ENSP00000411831.2:p.Ala145Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287270"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 458,
          "referenceAllele": "G",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029442",
      "geneNCBI_id": 23046,
      "geneSymbol": "KIF21B",
      "hgvs": [
        "ENST00000461742.6:c.433G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433808.1:p.Ala145Pro",
        "hgvsWellDefined": "ENSP00000433808.1:p.Ala145Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306185"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826349481",
      "coordinates": [
        {
          "allele": "C",
          "end": 750,
          "referenceAllele": "G",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029442",
      "geneNCBI_id": 23046,
      "geneSymbol": "KIF21B",
      "hgvs": [
        "NM_001252100.1:c.433G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001239029.1:p.Ala145Pro",
        "hgvsWellDefined": "NP_001239029.1:p.Ala145Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826349721",
      "coordinates": [
        {
          "allele": "C",
          "end": 750,
          "referenceAllele": "G",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029442",
      "geneNCBI_id": 23046,
      "geneSymbol": "KIF21B",
      "hgvs": [
        "NM_001252102.1:c.433G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001239031.1:p.Ala145Pro",
        "hgvsWellDefined": "NP_001239031.1:p.Ala145Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018858"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826349942",
      "coordinates": [
        {
          "allele": "C",
          "end": 750,
          "referenceAllele": "G",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029442",
      "geneNCBI_id": 23046,
      "geneSymbol": "KIF21B",
      "hgvs": [
        "NM_001252103.1:c.433G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001239032.1:p.Ala145Pro",
        "hgvsWellDefined": "NP_001239032.1:p.Ala145Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018859"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573092803",
      "coordinates": [
        {
          "allele": "C",
          "end": 750,
          "referenceAllele": "G",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029442",
      "geneNCBI_id": 23046,
      "geneSymbol": "KIF21B",
      "hgvs": [
        "NM_017596.3:c.433G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060066.2:p.Ala145Pro",
        "hgvsWellDefined": "NP_060066.2:p.Ala145Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035037"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 539,
          "referenceAllele": "G",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029442",
      "geneNCBI_id": 23046,
      "geneSymbol": "KIF21B",
      "hgvs": [
        "XR_921754.1:n.539G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118943"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 540,
          "referenceAllele": "G",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029442",
      "geneNCBI_id": 23046,
      "geneSymbol": "KIF21B",
      "hgvs": [
        "XR_921755.1:n.540G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118944"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 561,
          "referenceAllele": "G",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029442",
      "geneNCBI_id": 23046,
      "geneSymbol": "KIF21B",
      "hgvs": [
        "XM_017000731.1:c.433G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856220.1:p.Ala145Pro",
        "hgvsWellDefined": "XP_016856220.1:p.Ala145Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557036"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826349481",
      "coordinates": [
        {
          "allele": "C",
          "end": 764,
          "referenceAllele": "G",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029442",
      "geneNCBI_id": 23046,
      "geneSymbol": "KIF21B",
      "hgvs": [
        "NM_001252100.2:c.433G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001239029.1:p.Ala145Pro",
        "hgvsWellDefined": "NP_001239029.1:p.Ala145Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680385"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826349721",
      "coordinates": [
        {
          "allele": "C",
          "end": 764,
          "referenceAllele": "G",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029442",
      "geneNCBI_id": 23046,
      "geneSymbol": "KIF21B",
      "hgvs": [
        "NM_001252102.2:c.433G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001239031.1:p.Ala145Pro",
        "hgvsWellDefined": "NP_001239031.1:p.Ala145Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680386",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000461742.7:c.433G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001252102.2:c.433G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000433808.1:p.Ala145Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001239031.1:p.Ala145Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826349942",
      "coordinates": [
        {
          "allele": "C",
          "end": 764,
          "referenceAllele": "G",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029442",
      "geneNCBI_id": 23046,
      "geneSymbol": "KIF21B",
      "hgvs": [
        "NM_001252103.2:c.433G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001239032.1:p.Ala145Pro",
        "hgvsWellDefined": "NP_001239032.1:p.Ala145Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680387"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573092803",
      "coordinates": [
        {
          "allele": "C",
          "end": 764,
          "referenceAllele": "G",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029442",
      "geneNCBI_id": 23046,
      "geneSymbol": "KIF21B",
      "hgvs": [
        "NM_017596.4:c.433G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060066.2:p.Ala145Pro",
        "hgvsWellDefined": "NP_060066.2:p.Ala145Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697833"
    }
  ],
  "type": "nucleotide"
}