{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1402623072",
  "communityStandardTitle": [
    "NM_024818.6(UBA5):c.169A= (p.Met57=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/532178791",
        "rs": 532178791
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 132665830,
          "referenceAllele": "A",
          "start": 132665829
        }
      ],
      "hgvs": [
        "NC_000003.12:g.132665830A=",
        "CM000665.2:g.132665830A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 132384674,
          "referenceAllele": "A",
          "start": 132384673
        }
      ],
      "hgvs": [
        "NC_000003.11:g.132384674A=",
        "CM000665.1:g.132384674A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 133867364,
          "referenceAllele": "A",
          "start": 133867363
        }
      ],
      "hgvs": [
        "NC_000003.10:g.133867364A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16385,
          "referenceAllele": "A",
          "start": 16384
        }
      ],
      "hgvs": [
        "NG_052968.1:g.16385A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617279"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 340,
          "referenceAllele": "A",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "ENST00000683741.1:c.340A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507396.1:p.Met114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828712"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 378,
          "referenceAllele": "A",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "ENST00000356232.10:c.169A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348565.4:p.Met57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748769",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356232.10:c.169A="
          },
          "RefSeq": {
            "hgvs": "NM_024818.6:c.169A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348565.4:p.Met57="
          },
          "RefSeq": {
            "hgvs": "NP_079094.1:p.Met57="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 233,
          "referenceAllele": "A",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "ENST00000264991.8:c.1A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264991.4:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1241,
          "referenceAllele": "A",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "ENST00000356232.8:c.169A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348565.4:p.Met57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263695"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 352,
          "endIntronDirection": "-",
          "endIntronOffset": 2987,
          "referenceAllele": "A",
          "start": 352,
          "startIntronDirection": "-",
          "startIntronOffset": 2988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "ENST00000464068.5:c.28-2988A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420055.1:n.28-2988A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307974"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 364,
          "referenceAllele": "A",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "ENST00000464101.2:n.364A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 424,
          "referenceAllele": "A",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "ENST00000468022.5:c.1A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418569.1:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311027"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3995,
          "endIntronDirection": "+",
          "endIntronOffset": 16084,
          "referenceAllele": "T",
          "start": 3995,
          "startIntronDirection": "+",
          "startIntronOffset": 16083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048351",
      "geneNCBI_id": 100532724,
      "geneSymbol": "NPHP3-ACAD11",
      "hgvs": [
        "ENST00000471702.2:c.*1980+16084T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419763.1:n.*1980+16084T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 347,
          "referenceAllele": "A",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "ENST00000473651.5:c.169A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424984.1:p.Met57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 92,
          "referenceAllele": "A",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "ENST00000489361.1:c.1A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417905.1:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327440"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 761,
          "referenceAllele": "A",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "ENST00000493720.6:c.169A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417879.2:p.Met57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330813"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 695,
          "referenceAllele": "A",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "ENST00000494238.6:c.1A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418807.2:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 303,
          "endIntronDirection": "-",
          "endIntronOffset": 2987,
          "referenceAllele": "A",
          "start": 303,
          "startIntronDirection": "-",
          "startIntronOffset": 2988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "ENST00000505777.5:c.162-2988A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427233.1:n.162-2988A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 636,
          "endIntronDirection": "+",
          "endIntronOffset": 16084,
          "referenceAllele": "T",
          "start": 636,
          "startIntronDirection": "+",
          "startIntronOffset": 16083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048351",
      "geneNCBI_id": 100532724,
      "geneSymbol": "NPHP3-ACAD11",
      "hgvs": [
        "ENST00000632629.1:c.636+16084T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407595"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068518177",
      "coordinates": [
        {
          "allele": "A",
          "end": 411,
          "referenceAllele": "A",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "NM_024818.3:c.169A="
      ],
      "proteinEffect": {
        "hgvs": "NP_079094.1:p.Met57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 233,
          "referenceAllele": "A",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "NM_198329.2:c.1A="
      ],
      "proteinEffect": {
        "hgvs": "NP_938143.1:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044522"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3995,
          "endIntronDirection": "+",
          "endIntronOffset": 16084,
          "referenceAllele": "T",
          "start": 3995,
          "startIntronDirection": "+",
          "startIntronOffset": 16083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048351",
      "geneNCBI_id": 100532724,
      "geneSymbol": "NPHP3-ACAD11",
      "hgvs": [
        "NR_037804.1:n.3995+16084T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 757,
          "endIntronDirection": "-",
          "endIntronOffset": 2987,
          "referenceAllele": "A",
          "start": 757,
          "startIntronDirection": "-",
          "startIntronOffset": 2988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "XM_006713752.2:c.-39-2988A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006713815.1:n.-39-2988A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070340"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 158,
          "referenceAllele": "A",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "XM_011513184.1:c.1A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011511486.1:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 150,
          "endIntronDirection": "-",
          "endIntronOffset": 2987,
          "referenceAllele": "A",
          "start": 150,
          "startIntronDirection": "-",
          "startIntronOffset": 2988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "XM_011513185.1:c.28-2988A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011511487.1:n.28-2988A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 360,
          "referenceAllele": "A",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "NM_001320210.1:c.1A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001307139.1:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513496"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 352,
          "endIntronDirection": "-",
          "endIntronOffset": 2987,
          "referenceAllele": "A",
          "start": 352,
          "startIntronDirection": "-",
          "startIntronOffset": 2988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "NM_001321238.1:c.28-2988A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001308167.1:n.28-2988A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514149"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1202,
          "endIntronDirection": "-",
          "endIntronOffset": 2987,
          "referenceAllele": "A",
          "start": 1202,
          "startIntronDirection": "-",
          "startIntronOffset": 2988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "NM_001321239.1:c.-39-2988A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001308168.1:n.-39-2988A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068518177",
      "coordinates": [
        {
          "allele": "A",
          "end": 1210,
          "referenceAllele": "A",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "NM_024818.4:c.169A="
      ],
      "proteinEffect": {
        "hgvs": "NP_079094.1:p.Met57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526183"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 233,
          "referenceAllele": "A",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "NM_198329.3:c.1A="
      ],
      "proteinEffect": {
        "hgvs": "NP_938143.1:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526947"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 771,
          "referenceAllele": "A",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "XR_001740272.1:n.771A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590483"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068518177",
      "coordinates": [
        {
          "allele": "A",
          "end": 378,
          "referenceAllele": "A",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "NM_024818.5:c.169A="
      ],
      "proteinEffect": {
        "hgvs": "NP_079094.1:p.Met57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698770"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 728,
          "referenceAllele": "A",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "NM_001320210.2:c.1A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001307139.1:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717755"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 720,
          "endIntronDirection": "-",
          "endIntronOffset": 2987,
          "referenceAllele": "A",
          "start": 720,
          "startIntronDirection": "-",
          "startIntronOffset": 2988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "NM_001321238.2:c.28-2988A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001308167.1:n.28-2988A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717922"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068518177",
      "coordinates": [
        {
          "allele": "A",
          "end": 378,
          "referenceAllele": "A",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "NM_024818.6:c.169A="
      ],
      "proteinEffect": {
        "hgvs": "NP_079094.1:p.Met57="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356232.10:c.169A="
          },
          "RefSeq": {
            "hgvs": "NM_024818.6:c.169A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348565.4:p.Met57="
          },
          "RefSeq": {
            "hgvs": "NP_079094.1:p.Met57="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 249,
          "referenceAllele": "A",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023230",
      "geneNCBI_id": 79876,
      "geneSymbol": "UBA5",
      "hgvs": [
        "NM_198329.4:c.1A="
      ],
      "proteinEffect": {
        "hgvs": "NP_938143.1:p.Met1="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729899"
    }
  ],
  "type": "nucleotide"
}