{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA247170",
  "communityStandardTitle": [
    "NM_003361.4(UMOD):c.1406C>T (p.Thr469Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=195653[alleleid]",
        "alleleId": 195653,
        "preferredName": "NM_003361.4(UMOD):c.1406C>T (p.Thr469Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/198492",
        "RCV": [
          "RCV000179856",
          "RCV002251335",
          "RCV004539688"
        ],
        "variationId": 198492
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-20352584-G-A",
        "id": "16-20352584-G-A",
        "variant": "16:20352584 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.20352584G>A?assembly=hg19",
        "id": "chr16:g.20352584G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.20341262G>A?assembly=hg38",
        "id": "chr16:g.20341262G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143583842",
        "rs": 143583842
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-20352584-G-A?dataset=gnomad_r2_1",
        "id": "16-20352584-G-A",
        "variant": "16:20352584 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-20341262-G-A?dataset=gnomad_r3",
        "id": "16-20341262-G-A",
        "variant": "16:20341262 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-20341262-G-A?dataset=gnomad_r4",
        "id": "16-20341262-G-A",
        "variant": "16:20341262 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 20341262,
          "referenceAllele": "G",
          "start": 20341261
        }
      ],
      "hgvs": [
        "NC_000016.10:g.20341262G>A",
        "CM000678.2:g.20341262G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 20352584,
          "referenceAllele": "G",
          "start": 20352583
        }
      ],
      "hgvs": [
        "NC_000016.9:g.20352584G>A",
        "CM000678.1:g.20352584G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 20260085,
          "referenceAllele": "G",
          "start": 20260084
        }
      ],
      "hgvs": [
        "NC_000016.8:g.20260085G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16454,
          "referenceAllele": "C",
          "start": 16453
        }
      ],
      "hgvs": [
        "NG_008151.1:g.16454C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000897"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1535,
          "referenceAllele": "C",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "ENST00000396138.9:c.1406C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379442.5:p.Thr469Met",
        "hgvsWellDefined": "ENSP00000379442.5:p.Thr469Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753491",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396138.9:c.1406C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003361.4:c.1406C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379442.5:p.Thr469Met"
          },
          "RefSeq": {
            "hgvs": "NP_003352.2:p.Thr469Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1698,
          "referenceAllele": "C",
          "start": 1697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "ENST00000302509.8:c.1406C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306279.4:p.Thr469Met",
        "hgvsWellDefined": "ENSP00000306279.4:p.Thr469Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1629,
          "referenceAllele": "C",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "ENST00000396134.6:c.1505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379438.2:p.Thr502Met",
        "hgvsWellDefined": "ENSP00000379438.2:p.Thr502Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277113"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1620,
          "referenceAllele": "C",
          "start": 1619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "ENST00000396138.8:c.1553C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379442.4:p.Thr518Met",
        "hgvsWellDefined": "ENSP00000379442.4:p.Thr518Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 171,
          "referenceAllele": "C",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "ENST00000570331.1:n.171C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382053"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1553,
          "referenceAllele": "C",
          "start": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "ENST00000570689.5:c.1406C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460548.1:p.Thr469Met",
        "hgvsWellDefined": "ENSP00000460548.1:p.Thr469Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382193"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825291538",
      "coordinates": [
        {
          "allele": "T",
          "end": 1635,
          "referenceAllele": "C",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001008389.2:c.1406C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008390.1:p.Thr469Met",
        "hgvsWellDefined": "NP_001008390.1:p.Thr469Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007987"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916010538",
      "coordinates": [
        {
          "allele": "T",
          "end": 1797,
          "referenceAllele": "C",
          "start": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001278614.1:c.1505C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265543.1:p.Thr502Met",
        "hgvsWellDefined": "NP_001265543.1:p.Thr502Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021410"
    },
    {
      "@id": "http://reg.genome.network/allele/PA247171",
      "coordinates": [
        {
          "allele": "T",
          "end": 1698,
          "referenceAllele": "C",
          "start": 1697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_003361.3:c.1406C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003352.2:p.Thr469Met",
        "hgvsWellDefined": "NP_003352.2:p.Thr469Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1776,
          "referenceAllele": "C",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545934.1:c.1631C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544236.1:p.Thr544Met",
        "hgvsWellDefined": "XP_011544236.1:p.Thr544Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112816"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1835,
          "referenceAllele": "C",
          "start": 1834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545935.1:c.1547C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544237.1:p.Thr516Met",
        "hgvsWellDefined": "XP_011544237.1:p.Thr516Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112817"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1772,
          "referenceAllele": "C",
          "start": 1771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545936.1:c.1547C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544238.1:p.Thr516Met",
        "hgvsWellDefined": "XP_011544238.1:p.Thr516Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1662,
          "referenceAllele": "C",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545937.1:c.1547C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544239.1:p.Thr516Met",
        "hgvsWellDefined": "XP_011544239.1:p.Thr516Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112819"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1694,
          "referenceAllele": "C",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545938.1:c.1547C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544240.1:p.Thr516Met",
        "hgvsWellDefined": "XP_011544240.1:p.Thr516Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1635,
          "referenceAllele": "C",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545939.1:c.1490C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544241.1:p.Thr497Met",
        "hgvsWellDefined": "XP_011544241.1:p.Thr497Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1712,
          "referenceAllele": "C",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545940.1:c.1694C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544242.1:p.Thr565Met",
        "hgvsWellDefined": "XP_011544242.1:p.Thr565Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112822"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1613,
          "referenceAllele": "C",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545934.2:c.1547C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544236.2:p.Thr516Met",
        "hgvsWellDefined": "XP_011544236.2:p.Thr516Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1676,
          "referenceAllele": "C",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545940.2:c.1547C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544242.2:p.Thr516Met",
        "hgvsWellDefined": "XP_011544242.2:p.Thr516Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556313"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1819,
          "referenceAllele": "C",
          "start": 1818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_024450433.1:c.1547C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306201.1:p.Thr516Met",
        "hgvsWellDefined": "XP_024306201.1:p.Thr516Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583969"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825291538",
      "coordinates": [
        {
          "allele": "T",
          "end": 1472,
          "referenceAllele": "C",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001008389.3:c.1406C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008390.1:p.Thr469Met",
        "hgvsWellDefined": "NP_001008390.1:p.Thr469Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675306"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916010538",
      "coordinates": [
        {
          "allele": "T",
          "end": 1634,
          "referenceAllele": "C",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001278614.2:c.1505C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265543.1:p.Thr502Met",
        "hgvsWellDefined": "NP_001265543.1:p.Thr502Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681526"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828749408",
      "coordinates": [
        {
          "allele": "T",
          "end": 1631,
          "referenceAllele": "C",
          "start": 1630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001378232.1:c.1406C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365161.1:p.Thr469Met",
        "hgvsWellDefined": "NP_001365161.1:p.Thr469Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721584"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828749730",
      "coordinates": [
        {
          "allele": "T",
          "end": 1694,
          "referenceAllele": "C",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001378233.1:c.1406C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365162.1:p.Thr469Met",
        "hgvsWellDefined": "NP_001365162.1:p.Thr469Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828750050",
      "coordinates": [
        {
          "allele": "T",
          "end": 1613,
          "referenceAllele": "C",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001378234.1:c.1547C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365163.1:p.Thr516Met",
        "hgvsWellDefined": "NP_001365163.1:p.Thr516Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721586"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573074913",
      "coordinates": [
        {
          "allele": "T",
          "end": 1676,
          "referenceAllele": "C",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001378235.1:c.1547C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365164.1:p.Thr516Met",
        "hgvsWellDefined": "NP_001365164.1:p.Thr516Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721587"
    },
    {
      "@id": "http://reg.genome.network/allele/PA247171",
      "coordinates": [
        {
          "allele": "T",
          "end": 1535,
          "referenceAllele": "C",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_003361.4:c.1406C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003352.2:p.Thr469Met",
        "hgvsWellDefined": "NP_003352.2:p.Thr469Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727377",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396138.9:c.1406C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003361.4:c.1406C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379442.5:p.Thr469Met"
          },
          "RefSeq": {
            "hgvs": "NP_003352.2:p.Thr469Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1629,
          "referenceAllele": "C",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NR_165456.1:n.1629C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731721"
    }
  ],
  "type": "nucleotide"
}