{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394983698",
  "communityStandardTitle": [
    "NM_003361.4(UMOD):c.949T>G (p.Cys317Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=439514[alleleid]",
        "alleleId": 439514,
        "preferredName": "NM_003361.4(UMOD):c.949T>G (p.Cys317Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/446167",
        "RCV": [
          "RCV002251373"
        ],
        "variationId": 446167
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.20359569A>C?assembly=hg19",
        "id": "chr16:g.20359569A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.20348247A>C?assembly=hg38",
        "id": "chr16:g.20348247A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555487316",
        "rs": 1555487316
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 20348247,
          "referenceAllele": "A",
          "start": 20348246
        }
      ],
      "hgvs": [
        "NC_000016.10:g.20348247A>C",
        "CM000678.2:g.20348247A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 20359569,
          "referenceAllele": "A",
          "start": 20359568
        }
      ],
      "hgvs": [
        "NC_000016.9:g.20359569A>C",
        "CM000678.1:g.20359569A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 20267070,
          "referenceAllele": "A",
          "start": 20267069
        }
      ],
      "hgvs": [
        "NC_000016.8:g.20267070A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9469,
          "referenceAllele": "T",
          "start": 9468
        }
      ],
      "hgvs": [
        "NG_008151.1:g.9469T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000897"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1078,
          "referenceAllele": "T",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "ENST00000396138.9:c.949T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379442.5:p.Cys317Gly",
        "hgvsWellDefined": "ENSP00000379442.5:p.Cys317Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753491",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396138.9:c.949T>G"
          },
          "RefSeq": {
            "hgvs": "NM_003361.4:c.949T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379442.5:p.Cys317Gly"
          },
          "RefSeq": {
            "hgvs": "NP_003352.2:p.Cys317Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1241,
          "referenceAllele": "T",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "ENST00000302509.8:c.949T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306279.4:p.Cys317Gly",
        "hgvsWellDefined": "ENSP00000306279.4:p.Cys317Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255189"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1172,
          "referenceAllele": "T",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "ENST00000396134.6:c.1048T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379438.2:p.Cys350Gly",
        "hgvsWellDefined": "ENSP00000379438.2:p.Cys350Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277113"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1163,
          "referenceAllele": "T",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "ENST00000396138.8:c.1096T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379442.4:p.Cys366Gly",
        "hgvsWellDefined": "ENSP00000379442.4:p.Cys366Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1096,
          "referenceAllele": "T",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "ENST00000570689.5:c.949T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460548.1:p.Cys317Gly",
        "hgvsWellDefined": "ENSP00000460548.1:p.Cys317Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382193"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825291474",
      "coordinates": [
        {
          "allele": "G",
          "end": 1178,
          "referenceAllele": "T",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001008389.2:c.949T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008390.1:p.Cys317Gly",
        "hgvsWellDefined": "NP_001008390.1:p.Cys317Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007987"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916010527",
      "coordinates": [
        {
          "allele": "G",
          "end": 1340,
          "referenceAllele": "T",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001278614.1:c.1048T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265543.1:p.Cys350Gly",
        "hgvsWellDefined": "NP_001265543.1:p.Cys350Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021410"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658655156",
      "coordinates": [
        {
          "allele": "G",
          "end": 1241,
          "referenceAllele": "T",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_003361.3:c.949T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003352.2:p.Cys317Gly",
        "hgvsWellDefined": "NP_003352.2:p.Cys317Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028607"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1178,
          "referenceAllele": "T",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545934.1:c.1033T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544236.1:p.Cys345Gly",
        "hgvsWellDefined": "XP_011544236.1:p.Cys345Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112816"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1237,
          "referenceAllele": "T",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545935.1:c.949T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544237.1:p.Cys317Gly",
        "hgvsWellDefined": "XP_011544237.1:p.Cys317Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112817"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1174,
          "referenceAllele": "T",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545936.1:c.949T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544238.1:p.Cys317Gly",
        "hgvsWellDefined": "XP_011544238.1:p.Cys317Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1064,
          "referenceAllele": "T",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545937.1:c.949T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544239.1:p.Cys317Gly",
        "hgvsWellDefined": "XP_011544239.1:p.Cys317Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1096,
          "referenceAllele": "T",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545938.1:c.949T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544240.1:p.Cys317Gly",
        "hgvsWellDefined": "XP_011544240.1:p.Cys317Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112820"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1178,
          "referenceAllele": "T",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545939.1:c.1033T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544241.1:p.Cys345Gly",
        "hgvsWellDefined": "XP_011544241.1:p.Cys345Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112821"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1114,
          "referenceAllele": "T",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545940.1:c.1096T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544242.1:p.Cys366Gly",
        "hgvsWellDefined": "XP_011544242.1:p.Cys366Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112822"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1015,
          "referenceAllele": "T",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545934.2:c.949T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544236.2:p.Cys317Gly",
        "hgvsWellDefined": "XP_011544236.2:p.Cys317Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556312"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1078,
          "referenceAllele": "T",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545940.2:c.949T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544242.2:p.Cys317Gly",
        "hgvsWellDefined": "XP_011544242.2:p.Cys317Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556313"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1221,
          "referenceAllele": "T",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_024450433.1:c.949T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306201.1:p.Cys317Gly",
        "hgvsWellDefined": "XP_024306201.1:p.Cys317Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583969"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825291474",
      "coordinates": [
        {
          "allele": "G",
          "end": 1015,
          "referenceAllele": "T",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001008389.3:c.949T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008390.1:p.Cys317Gly",
        "hgvsWellDefined": "NP_001008390.1:p.Cys317Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675306"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916010527",
      "coordinates": [
        {
          "allele": "G",
          "end": 1177,
          "referenceAllele": "T",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001278614.2:c.1048T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265543.1:p.Cys350Gly",
        "hgvsWellDefined": "NP_001265543.1:p.Cys350Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681526"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828749343",
      "coordinates": [
        {
          "allele": "G",
          "end": 1174,
          "referenceAllele": "T",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001378232.1:c.949T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365161.1:p.Cys317Gly",
        "hgvsWellDefined": "NP_001365161.1:p.Cys317Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721584"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828749663",
      "coordinates": [
        {
          "allele": "G",
          "end": 1237,
          "referenceAllele": "T",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001378233.1:c.949T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365162.1:p.Cys317Gly",
        "hgvsWellDefined": "NP_001365162.1:p.Cys317Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828749984",
      "coordinates": [
        {
          "allele": "G",
          "end": 1015,
          "referenceAllele": "T",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001378234.1:c.949T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365163.1:p.Cys317Gly",
        "hgvsWellDefined": "NP_001365163.1:p.Cys317Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721586"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828750306",
      "coordinates": [
        {
          "allele": "G",
          "end": 1078,
          "referenceAllele": "T",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001378235.1:c.949T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365164.1:p.Cys317Gly",
        "hgvsWellDefined": "NP_001365164.1:p.Cys317Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721587"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828750575",
      "coordinates": [
        {
          "allele": "G",
          "end": 1174,
          "referenceAllele": "T",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001378237.1:c.949T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365166.1:p.Cys317Gly",
        "hgvsWellDefined": "NP_001365166.1:p.Cys317Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658655156",
      "coordinates": [
        {
          "allele": "G",
          "end": 1078,
          "referenceAllele": "T",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_003361.4:c.949T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003352.2:p.Cys317Gly",
        "hgvsWellDefined": "NP_003352.2:p.Cys317Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727377",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396138.9:c.949T>G"
          },
          "RefSeq": {
            "hgvs": "NM_003361.4:c.949T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379442.5:p.Cys317Gly"
          },
          "RefSeq": {
            "hgvs": "NP_003352.2:p.Cys317Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1174,
          "referenceAllele": "T",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NR_165456.1:n.1174T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731721"
    }
  ],
  "type": "nucleotide"
}