{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA170846",
  "communityStandardTitle": [
    "NM_006623.4(PHGDH):c.856G>C (p.Ala286Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=166141[alleleid]",
        "alleleId": 166141,
        "preferredName": "NM_006623.4(PHGDH):c.856G>C (p.Ala286Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/156361",
        "RCV": [
          "RCV000144445"
        ],
        "variationId": 156361
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.120279800G>C?assembly=hg19",
        "id": "chr1:g.120279800G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.119737177G>C?assembly=hg38",
        "id": "chr1:g.119737177G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587777775",
        "rs": 587777775
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 119737177,
          "referenceAllele": "G",
          "start": 119737176
        }
      ],
      "hgvs": [
        "NC_000001.11:g.119737177G>C",
        "CM000663.2:g.119737177G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 120279800,
          "referenceAllele": "G",
          "start": 120279799
        }
      ],
      "hgvs": [
        "NC_000001.10:g.120279800G>C",
        "CM000663.1:g.120279800G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 120081323,
          "referenceAllele": "G",
          "start": 120081322
        }
      ],
      "hgvs": [
        "NC_000001.9:g.120081323G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 30382,
          "referenceAllele": "G",
          "start": 30381
        }
      ],
      "hgvs": [
        "NG_009188.1:g.30382G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001466"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 945,
          "referenceAllele": "G",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "ENST00000369409.9:c.856G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358417.5:p.Ala286Pro",
        "hgvsWellDefined": "ENSP00000358417.5:p.Ala286Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750400"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 945,
          "referenceAllele": "G",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "ENST00000641023.2:c.856G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493175.1:p.Ala286Pro",
        "hgvsWellDefined": "ENSP00000493175.1:p.Ala286Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000641023.2:c.856G>C"
          },
          "RefSeq": {
            "hgvs": "NM_006623.4:c.856G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493175.1:p.Ala286Pro"
          },
          "RefSeq": {
            "hgvs": "NP_006614.2:p.Ala286Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 993,
          "referenceAllele": "G",
          "start": 992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "ENST00000641074.1:c.856G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493446.1:p.Ala286Pro",
        "hgvsWellDefined": "ENSP00000493446.1:p.Ala286Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765824"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 981,
          "referenceAllele": "G",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "ENST00000641115.1:c.856G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493264.1:p.Ala286Pro",
        "hgvsWellDefined": "ENSP00000493264.1:p.Ala286Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765854"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1146,
          "referenceAllele": "G",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "ENST00000641213.1:c.*509G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493079.1:n.*509G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765926"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 841,
          "referenceAllele": "G",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "ENST00000641314.1:n.841G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1277,
          "referenceAllele": "G",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "ENST00000641375.1:c.*692G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493089.1:n.*692G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766040"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1689,
          "referenceAllele": "G",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "ENST00000641597.1:c.856G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493382.1:p.Ala286Pro",
        "hgvsWellDefined": "ENSP00000493382.1:p.Ala286Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766199"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1208,
          "referenceAllele": "G",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "ENST00000641756.1:c.*600G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493147.1:n.*600G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766313"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 612,
          "referenceAllele": "G",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "ENST00000641811.1:c.612G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766353"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1267,
          "referenceAllele": "G",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "ENST00000641891.1:c.*682G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493288.1:n.*682G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766414"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 796,
          "referenceAllele": "G",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "ENST00000641927.1:n.796G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766441"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 995,
          "referenceAllele": "G",
          "start": 994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "ENST00000641947.1:c.856G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492994.1:p.Ala286Pro",
        "hgvsWellDefined": "ENSP00000492994.1:p.Ala286Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766453"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 978,
          "referenceAllele": "G",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "ENST00000642021.1:n.978G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766506"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2261,
          "referenceAllele": "G",
          "start": 2260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "ENST00000369407.3:c.754G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358415.3:p.Ala252Pro",
        "hgvsWellDefined": "ENSP00000358415.3:p.Ala252Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267503"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 992,
          "referenceAllele": "G",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "ENST00000369409.8:c.856G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358417.4:p.Ala286Pro",
        "hgvsWellDefined": "ENSP00000358417.4:p.Ala286Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267505"
    },
    {
      "@id": "http://reg.genome.network/allele/PA170847",
      "coordinates": [
        {
          "allele": "C",
          "end": 1083,
          "referenceAllele": "G",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "NM_006623.3:c.856G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006614.2:p.Ala286Pro",
        "hgvsWellDefined": "NP_006614.2:p.Ala286Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031622"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1364,
          "referenceAllele": "G",
          "start": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "XM_011541226.1:c.1078G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539528.1:p.Ala360Pro",
        "hgvsWellDefined": "XP_011539528.1:p.Ala360Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1073,
          "referenceAllele": "G",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "XM_011541227.1:c.1000G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539529.1:p.Ala334Pro",
        "hgvsWellDefined": "XP_011539529.1:p.Ala334Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108170"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 982,
          "referenceAllele": "G",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "XM_011541228.1:c.967G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539530.1:p.Ala323Pro",
        "hgvsWellDefined": "XP_011539530.1:p.Ala323Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108171"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1302,
          "referenceAllele": "G",
          "start": 1301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "XM_011541229.1:c.793G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539531.1:p.Ala265Pro",
        "hgvsWellDefined": "XP_011539531.1:p.Ala265Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108172"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1080,
          "referenceAllele": "G",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "XM_011541230.1:c.571G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539532.1:p.Ala191Pro",
        "hgvsWellDefined": "XP_011539532.1:p.Ala191Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108173"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1185,
          "referenceAllele": "G",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "XM_011541231.1:c.562G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539533.1:p.Ala188Pro",
        "hgvsWellDefined": "XP_011539533.1:p.Ala188Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1165,
          "referenceAllele": "G",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "XM_011541226.2:c.1078G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539528.1:p.Ala360Pro",
        "hgvsWellDefined": "XP_011539528.1:p.Ala360Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554356"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1069,
          "referenceAllele": "G",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "XM_011541227.2:c.1000G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539529.1:p.Ala334Pro",
        "hgvsWellDefined": "XP_011539529.1:p.Ala334Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554357"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6345,
          "referenceAllele": "G",
          "start": 6344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "XM_011541228.2:c.967G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539530.1:p.Ala323Pro",
        "hgvsWellDefined": "XP_011539530.1:p.Ala323Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554358"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1186,
          "referenceAllele": "G",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "XM_011541231.2:c.562G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539533.1:p.Ala188Pro",
        "hgvsWellDefined": "XP_011539533.1:p.Ala188Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554359"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6048,
          "referenceAllele": "G",
          "start": 6047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "XM_024446338.1:c.967G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302106.1:p.Ala323Pro",
        "hgvsWellDefined": "XP_024302106.1:p.Ala323Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA170847",
      "coordinates": [
        {
          "allele": "C",
          "end": 945,
          "referenceAllele": "G",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008923",
      "geneNCBI_id": 26227,
      "geneSymbol": "PHGDH",
      "hgvs": [
        "NM_006623.4:c.856G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006614.2:p.Ala286Pro",
        "hgvsWellDefined": "NP_006614.2:p.Ala286Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696766",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000641023.2:c.856G>C"
          },
          "RefSeq": {
            "hgvs": "NM_006623.4:c.856G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493175.1:p.Ala286Pro"
          },
          "RefSeq": {
            "hgvs": "NP_006614.2:p.Ala286Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}