{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA256256",
  "communityStandardTitle": [
    "NM_003361.4(UMOD):c.817G>T (p.Val273Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27303[alleleid]",
        "alleleId": 27303,
        "preferredName": "NM_003361.4(UMOD):c.817G>T (p.Val273Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12264",
        "RCV": [
          "RCV001566754",
          "RCV002251327"
        ],
        "variationId": 12264
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.20359806C>A?assembly=hg19",
        "id": "chr16:g.20359806C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.20348484C>A?assembly=hg38",
        "id": "chr16:g.20348484C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121917774",
        "rs": 121917774
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 20348484,
          "referenceAllele": "C",
          "start": 20348483
        }
      ],
      "hgvs": [
        "NC_000016.10:g.20348484C>A",
        "CM000678.2:g.20348484C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 20359806,
          "referenceAllele": "C",
          "start": 20359805
        }
      ],
      "hgvs": [
        "NC_000016.9:g.20359806C>A",
        "CM000678.1:g.20359806C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 20267307,
          "referenceAllele": "C",
          "start": 20267306
        }
      ],
      "hgvs": [
        "NC_000016.8:g.20267307C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9232,
          "referenceAllele": "G",
          "start": 9231
        }
      ],
      "hgvs": [
        "NG_008151.1:g.9232G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000897"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 946,
          "referenceAllele": "G",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "ENST00000396138.9:c.817G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379442.5:p.Val273Phe",
        "hgvsWellDefined": "ENSP00000379442.5:p.Val273Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753491",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396138.9:c.817G>T"
          },
          "RefSeq": {
            "hgvs": "NM_003361.4:c.817G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379442.5:p.Val273Phe"
          },
          "RefSeq": {
            "hgvs": "NP_003352.2:p.Val273Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1109,
          "referenceAllele": "G",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "ENST00000302509.8:c.817G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306279.4:p.Val273Phe",
        "hgvsWellDefined": "ENSP00000306279.4:p.Val273Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1040,
          "referenceAllele": "G",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "ENST00000396134.6:c.916G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379438.2:p.Val306Phe",
        "hgvsWellDefined": "ENSP00000379438.2:p.Val306Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277113"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1031,
          "referenceAllele": "G",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "ENST00000396138.8:c.964G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379442.4:p.Val322Phe",
        "hgvsWellDefined": "ENSP00000379442.4:p.Val322Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "ENST00000570689.5:c.817G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460548.1:p.Val273Phe",
        "hgvsWellDefined": "ENSP00000460548.1:p.Val273Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382193"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825291457",
      "coordinates": [
        {
          "allele": "T",
          "end": 1046,
          "referenceAllele": "G",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001008389.2:c.817G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008390.1:p.Val273Phe",
        "hgvsWellDefined": "NP_001008390.1:p.Val273Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007987"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916010519",
      "coordinates": [
        {
          "allele": "T",
          "end": 1208,
          "referenceAllele": "G",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001278614.1:c.916G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265543.1:p.Val306Phe",
        "hgvsWellDefined": "NP_001265543.1:p.Val306Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021410"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256257",
      "coordinates": [
        {
          "allele": "T",
          "end": 1109,
          "referenceAllele": "G",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_003361.3:c.817G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003352.2:p.Val273Phe",
        "hgvsWellDefined": "NP_003352.2:p.Val273Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1046,
          "referenceAllele": "G",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545934.1:c.901G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544236.1:p.Val301Phe",
        "hgvsWellDefined": "XP_011544236.1:p.Val301Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112816"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1105,
          "referenceAllele": "G",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545935.1:c.817G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544237.1:p.Val273Phe",
        "hgvsWellDefined": "XP_011544237.1:p.Val273Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112817"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1042,
          "referenceAllele": "G",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545936.1:c.817G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544238.1:p.Val273Phe",
        "hgvsWellDefined": "XP_011544238.1:p.Val273Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 932,
          "referenceAllele": "G",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545937.1:c.817G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544239.1:p.Val273Phe",
        "hgvsWellDefined": "XP_011544239.1:p.Val273Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112819"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545938.1:c.817G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544240.1:p.Val273Phe",
        "hgvsWellDefined": "XP_011544240.1:p.Val273Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1046,
          "referenceAllele": "G",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545939.1:c.901G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544241.1:p.Val301Phe",
        "hgvsWellDefined": "XP_011544241.1:p.Val301Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 982,
          "referenceAllele": "G",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545940.1:c.964G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544242.1:p.Val322Phe",
        "hgvsWellDefined": "XP_011544242.1:p.Val322Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112822"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 883,
          "referenceAllele": "G",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545934.2:c.817G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544236.2:p.Val273Phe",
        "hgvsWellDefined": "XP_011544236.2:p.Val273Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 946,
          "referenceAllele": "G",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545940.2:c.817G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544242.2:p.Val273Phe",
        "hgvsWellDefined": "XP_011544242.2:p.Val273Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556313"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1089,
          "referenceAllele": "G",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_024450433.1:c.817G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306201.1:p.Val273Phe",
        "hgvsWellDefined": "XP_024306201.1:p.Val273Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583969"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825291457",
      "coordinates": [
        {
          "allele": "T",
          "end": 883,
          "referenceAllele": "G",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001008389.3:c.817G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008390.1:p.Val273Phe",
        "hgvsWellDefined": "NP_001008390.1:p.Val273Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675306"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916010519",
      "coordinates": [
        {
          "allele": "T",
          "end": 1045,
          "referenceAllele": "G",
          "start": 1044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001278614.2:c.916G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265543.1:p.Val306Phe",
        "hgvsWellDefined": "NP_001265543.1:p.Val306Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681526"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828749322",
      "coordinates": [
        {
          "allele": "T",
          "end": 1042,
          "referenceAllele": "G",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001378232.1:c.817G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365161.1:p.Val273Phe",
        "hgvsWellDefined": "NP_001365161.1:p.Val273Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721584"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828749643",
      "coordinates": [
        {
          "allele": "T",
          "end": 1105,
          "referenceAllele": "G",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001378233.1:c.817G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365162.1:p.Val273Phe",
        "hgvsWellDefined": "NP_001365162.1:p.Val273Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828749964",
      "coordinates": [
        {
          "allele": "T",
          "end": 883,
          "referenceAllele": "G",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001378234.1:c.817G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365163.1:p.Val273Phe",
        "hgvsWellDefined": "NP_001365163.1:p.Val273Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721586"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828750285",
      "coordinates": [
        {
          "allele": "T",
          "end": 946,
          "referenceAllele": "G",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001378235.1:c.817G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365164.1:p.Val273Phe",
        "hgvsWellDefined": "NP_001365164.1:p.Val273Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721587"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828750555",
      "coordinates": [
        {
          "allele": "T",
          "end": 1042,
          "referenceAllele": "G",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001378237.1:c.817G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365166.1:p.Val273Phe",
        "hgvsWellDefined": "NP_001365166.1:p.Val273Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA256257",
      "coordinates": [
        {
          "allele": "T",
          "end": 946,
          "referenceAllele": "G",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_003361.4:c.817G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003352.2:p.Val273Phe",
        "hgvsWellDefined": "NP_003352.2:p.Val273Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727377",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396138.9:c.817G>T"
          },
          "RefSeq": {
            "hgvs": "NM_003361.4:c.817G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379442.5:p.Val273Phe"
          },
          "RefSeq": {
            "hgvs": "NP_003352.2:p.Val273Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1042,
          "referenceAllele": "G",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NR_165456.1:n.1042G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731721"
    }
  ],
  "type": "nucleotide"
}