{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7939034",
  "communityStandardTitle": [
    "NM_003361.4(UMOD):c.1742C>A (p.Thr581Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=342224[alleleid]",
        "alleleId": 342224,
        "preferredName": "NM_003361.4(UMOD):c.1742C>A (p.Thr581Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/318284",
        "RCV": [
          "RCV002520990",
          "RCV002251351",
          "RCV004021646"
        ],
        "variationId": 318284
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-20348048-G-T",
        "id": "16-20348048-G-T",
        "variant": "16:20348048 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.20348048G>T?assembly=hg19",
        "id": "chr16:g.20348048G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.20336726G>T?assembly=hg38",
        "id": "chr16:g.20336726G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143641292",
        "rs": 143641292
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-20348048-G-T?dataset=gnomad_r2_1",
        "id": "16-20348048-G-T",
        "variant": "16:20348048 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-20336726-G-T?dataset=gnomad_r3",
        "id": "16-20336726-G-T",
        "variant": "16:20336726 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-20336726-G-T?dataset=gnomad_r4",
        "id": "16-20336726-G-T",
        "variant": "16:20336726 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 20336726,
          "referenceAllele": "G",
          "start": 20336725
        }
      ],
      "hgvs": [
        "NC_000016.10:g.20336726G>T",
        "CM000678.2:g.20336726G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 20348048,
          "referenceAllele": "G",
          "start": 20348047
        }
      ],
      "hgvs": [
        "NC_000016.9:g.20348048G>T",
        "CM000678.1:g.20348048G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 20255549,
          "referenceAllele": "G",
          "start": 20255548
        }
      ],
      "hgvs": [
        "NC_000016.8:g.20255549G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20990,
          "referenceAllele": "C",
          "start": 20989
        }
      ],
      "hgvs": [
        "NG_008151.1:g.20990C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000897"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1871,
          "referenceAllele": "C",
          "start": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "ENST00000396138.9:c.1742C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379442.5:p.Thr581Asn",
        "hgvsWellDefined": "ENSP00000379442.5:p.Thr581Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753491",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396138.9:c.1742C>A"
          },
          "RefSeq": {
            "hgvs": "NM_003361.4:c.1742C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379442.5:p.Thr581Asn"
          },
          "RefSeq": {
            "hgvs": "NP_003352.2:p.Thr581Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2034,
          "referenceAllele": "C",
          "start": 2033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "ENST00000302509.8:c.1742C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306279.4:p.Thr581Asn",
        "hgvsWellDefined": "ENSP00000306279.4:p.Thr581Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255189"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1965,
          "referenceAllele": "C",
          "start": 1964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "ENST00000396134.6:c.1841C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379438.2:p.Thr614Asn",
        "hgvsWellDefined": "ENSP00000379438.2:p.Thr614Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277113"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1956,
          "referenceAllele": "C",
          "start": 1955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "ENST00000396138.8:c.1889C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379442.4:p.Thr630Asn",
        "hgvsWellDefined": "ENSP00000379442.4:p.Thr630Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 507,
          "referenceAllele": "C",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "ENST00000570331.1:n.507C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382053"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1889,
          "referenceAllele": "C",
          "start": 1888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "ENST00000570689.5:c.1742C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460548.1:p.Thr581Asn",
        "hgvsWellDefined": "ENSP00000460548.1:p.Thr581Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382193"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825291579",
      "coordinates": [
        {
          "allele": "A",
          "end": 1971,
          "referenceAllele": "C",
          "start": 1970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001008389.2:c.1742C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008390.1:p.Thr581Asn",
        "hgvsWellDefined": "NP_001008390.1:p.Thr581Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007987"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916010543",
      "coordinates": [
        {
          "allele": "A",
          "end": 2133,
          "referenceAllele": "C",
          "start": 2132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001278614.1:c.1841C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265543.1:p.Thr614Asn",
        "hgvsWellDefined": "NP_001265543.1:p.Thr614Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021410"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645459294",
      "coordinates": [
        {
          "allele": "A",
          "end": 2034,
          "referenceAllele": "C",
          "start": 2033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_003361.3:c.1742C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003352.2:p.Thr581Asn",
        "hgvsWellDefined": "NP_003352.2:p.Thr581Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2112,
          "referenceAllele": "C",
          "start": 2111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545934.1:c.1967C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544236.1:p.Thr656Asn",
        "hgvsWellDefined": "XP_011544236.1:p.Thr656Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112816"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2171,
          "referenceAllele": "C",
          "start": 2170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545935.1:c.1883C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544237.1:p.Thr628Asn",
        "hgvsWellDefined": "XP_011544237.1:p.Thr628Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112817"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2108,
          "referenceAllele": "C",
          "start": 2107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545936.1:c.1883C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544238.1:p.Thr628Asn",
        "hgvsWellDefined": "XP_011544238.1:p.Thr628Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1998,
          "referenceAllele": "C",
          "start": 1997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545937.1:c.1883C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544239.1:p.Thr628Asn",
        "hgvsWellDefined": "XP_011544239.1:p.Thr628Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2030,
          "referenceAllele": "C",
          "start": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545938.1:c.1883C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544240.1:p.Thr628Asn",
        "hgvsWellDefined": "XP_011544240.1:p.Thr628Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112820"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1971,
          "referenceAllele": "C",
          "start": 1970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545939.1:c.1826C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544241.1:p.Thr609Asn",
        "hgvsWellDefined": "XP_011544241.1:p.Thr609Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112821"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2048,
          "referenceAllele": "C",
          "start": 2047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545940.1:c.2030C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544242.1:p.Thr677Asn",
        "hgvsWellDefined": "XP_011544242.1:p.Thr677Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112822"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1949,
          "referenceAllele": "C",
          "start": 1948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545934.2:c.1883C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544236.2:p.Thr628Asn",
        "hgvsWellDefined": "XP_011544236.2:p.Thr628Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556312"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2012,
          "referenceAllele": "C",
          "start": 2011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_011545940.2:c.1883C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544242.2:p.Thr628Asn",
        "hgvsWellDefined": "XP_011544242.2:p.Thr628Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556313"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2155,
          "referenceAllele": "C",
          "start": 2154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "XM_024450433.1:c.1883C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306201.1:p.Thr628Asn",
        "hgvsWellDefined": "XP_024306201.1:p.Thr628Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583969"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825291579",
      "coordinates": [
        {
          "allele": "A",
          "end": 1808,
          "referenceAllele": "C",
          "start": 1807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001008389.3:c.1742C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001008390.1:p.Thr581Asn",
        "hgvsWellDefined": "NP_001008390.1:p.Thr581Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675306"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916010543",
      "coordinates": [
        {
          "allele": "A",
          "end": 1970,
          "referenceAllele": "C",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001278614.2:c.1841C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265543.1:p.Thr614Asn",
        "hgvsWellDefined": "NP_001265543.1:p.Thr614Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681526"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828749450",
      "coordinates": [
        {
          "allele": "A",
          "end": 1967,
          "referenceAllele": "C",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001378232.1:c.1742C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365161.1:p.Thr581Asn",
        "hgvsWellDefined": "NP_001365161.1:p.Thr581Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721584"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828749771",
      "coordinates": [
        {
          "allele": "A",
          "end": 2030,
          "referenceAllele": "C",
          "start": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001378233.1:c.1742C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365162.1:p.Thr581Asn",
        "hgvsWellDefined": "NP_001365162.1:p.Thr581Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828750092",
      "coordinates": [
        {
          "allele": "A",
          "end": 1949,
          "referenceAllele": "C",
          "start": 1948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001378234.1:c.1883C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365163.1:p.Thr628Asn",
        "hgvsWellDefined": "NP_001365163.1:p.Thr628Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721586"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573074917",
      "coordinates": [
        {
          "allele": "A",
          "end": 2012,
          "referenceAllele": "C",
          "start": 2011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001378235.1:c.1883C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365164.1:p.Thr628Asn",
        "hgvsWellDefined": "NP_001365164.1:p.Thr628Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721587"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645459294",
      "coordinates": [
        {
          "allele": "A",
          "end": 1871,
          "referenceAllele": "C",
          "start": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_003361.4:c.1742C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003352.2:p.Thr581Asn",
        "hgvsWellDefined": "NP_003352.2:p.Thr581Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727377",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396138.9:c.1742C>A"
          },
          "RefSeq": {
            "hgvs": "NM_003361.4:c.1742C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379442.5:p.Thr581Asn"
          },
          "RefSeq": {
            "hgvs": "NP_003352.2:p.Thr581Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1965,
          "referenceAllele": "C",
          "start": 1964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NR_165456.1:n.1965C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731721"
    }
  ],
  "type": "nucleotide"
}