{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6314030",
  "communityStandardTitle": [
    "NM_000190.4(HMBS):c.364G>C (p.Ala122Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=904069[alleleid]",
        "alleleId": 904069,
        "preferredName": "NM_000190.4(HMBS):c.364G>C (p.Ala122Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/915842",
        "RCV": [
          "RCV001171316"
        ],
        "variationId": 915842
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-118960719-G-C",
        "id": "11-118960719-G-C",
        "variant": "11:118960719 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.118960719G>C?assembly=hg19",
        "id": "chr11:g.118960719G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.119090009G>C?assembly=hg38",
        "id": "chr11:g.119090009G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143984293",
        "rs": 143984293
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-118960719-G-C?dataset=gnomad_r2_1",
        "id": "11-118960719-G-C",
        "variant": "11:118960719 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 119090009,
          "referenceAllele": "G",
          "start": 119090008
        }
      ],
      "hgvs": [
        "NC_000011.10:g.119090009G>C",
        "CM000673.2:g.119090009G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 118960719,
          "referenceAllele": "G",
          "start": 118960718
        }
      ],
      "hgvs": [
        "NC_000011.9:g.118960719G>C",
        "CM000673.1:g.118960719G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 118465929,
          "referenceAllele": "G",
          "start": 118465928
        }
      ],
      "hgvs": [
        "NC_000011.8:g.118465929G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10133,
          "referenceAllele": "G",
          "start": 10132
        }
      ],
      "hgvs": [
        "NG_008093.1:g.10133G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000838"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 900,
          "referenceAllele": "G",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000686218.1:c.199G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509288.1:p.Ala67Pro",
        "hgvsWellDefined": "ENSP00000509288.1:p.Ala67Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830458"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1214,
          "referenceAllele": "G",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000686690.1:n.1214G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830701"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2105,
          "referenceAllele": "G",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000691144.1:n.2105G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 948,
          "referenceAllele": "G",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000691249.1:n.948G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 497,
          "referenceAllele": "G",
          "start": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000442944.7:c.346G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392041.3:p.Ala116Pro",
        "hgvsWellDefined": "ENSP00000392041.3:p.Ala116Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755929"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 313,
          "referenceAllele": "G",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000534956.2:n.313G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759423"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 570,
          "referenceAllele": "G",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000536813.6:c.313G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438726.2:p.Ala105Pro",
        "hgvsWellDefined": "ENSP00000438726.2:p.Ala105Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759503"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 420,
          "referenceAllele": "G",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000546302.6:c.286G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445599.1:p.Ala96Pro",
        "hgvsWellDefined": "ENSP00000445599.1:p.Ala96Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759841"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 500,
          "referenceAllele": "G",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000640813.1:c.313G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491061.1:p.Ala105Pro",
        "hgvsWellDefined": "ENSP00000491061.1:p.Ala105Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765686"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 358,
          "referenceAllele": "G",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000648026.1:c.358G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498044.1:p.Ala120Pro",
        "hgvsWellDefined": "ENSP00000498044.1:p.Ala120Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769748"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 491,
          "referenceAllele": "G",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000648374.1:c.313G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497255.1:p.Ala105Pro",
        "hgvsWellDefined": "ENSP00000497255.1:p.Ala105Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769943"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 423,
          "referenceAllele": "G",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000648488.1:c.313G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498079.1:p.Ala105Pro",
        "hgvsWellDefined": "ENSP00000498079.1:p.Ala105Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 581,
          "referenceAllele": "G",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000649823.1:n.581G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770778"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 254,
          "referenceAllele": "G",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000649868.1:c.*72G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497548.1:n.*72G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770810"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 985,
          "referenceAllele": "G",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000650101.1:c.295G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496970.1:p.Ala99Pro",
        "hgvsWellDefined": "ENSP00000496970.1:p.Ala99Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770934"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1190,
          "referenceAllele": "G",
          "start": 1189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000650307.1:n.1190G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771051"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 517,
          "referenceAllele": "G",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000652429.1:c.364G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498786.1:p.Ala122Pro",
        "hgvsWellDefined": "ENSP00000498786.1:p.Ala122Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652429.1:c.364G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000190.4:c.364G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498786.1:p.Ala122Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000181.2:p.Ala122Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 515,
          "referenceAllele": "G",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000278715.7:c.364G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278715.3:p.Ala122Pro",
        "hgvsWellDefined": "ENSP00000278715.3:p.Ala122Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252818"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 423,
          "referenceAllele": "G",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000392841.1:c.313G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376584.1:p.Ala105Pro",
        "hgvsWellDefined": "ENSP00000376584.1:p.Ala105Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275314"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 576,
          "referenceAllele": "G",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000442944.6:c.313G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392041.2:p.Ala105Pro",
        "hgvsWellDefined": "ENSP00000392041.2:p.Ala105Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297113"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 280,
          "referenceAllele": "G",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000534956.1:n.280G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359450"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 507,
          "referenceAllele": "G",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000535253.5:c.313G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442079.1:p.Ala105Pro",
        "hgvsWellDefined": "ENSP00000442079.1:p.Ala105Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 570,
          "referenceAllele": "G",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000535793.5:c.*259G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439904.1:n.*259G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359928"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 495,
          "referenceAllele": "G",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000536813.5:c.346G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438726.1:p.Ala116Pro",
        "hgvsWellDefined": "ENSP00000438726.1:p.Ala116Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360446"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 604,
          "referenceAllele": "G",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000537841.5:c.313G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444730.1:p.Ala105Pro",
        "hgvsWellDefined": "ENSP00000444730.1:p.Ala105Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360988"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 907,
          "referenceAllele": "G",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000539986.5:c.313G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440092.1:p.Ala105Pro",
        "hgvsWellDefined": "ENSP00000440092.1:p.Ala105Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 809,
          "referenceAllele": "G",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542044.5:n.809G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363250"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 502,
          "referenceAllele": "G",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542345.5:n.502G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363405"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 604,
          "referenceAllele": "G",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542729.5:c.313G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443058.1:p.Ala105Pro",
        "hgvsWellDefined": "ENSP00000443058.1:p.Ala105Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363623"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 673,
          "referenceAllele": "G",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542822.5:c.*300G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444817.1:n.*300G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363672"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 414,
          "referenceAllele": "G",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000543090.5:c.310G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445429.1:p.Ala104Pro",
        "hgvsWellDefined": "ENSP00000445429.1:p.Ala104Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363818"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 599,
          "referenceAllele": "G",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000543543.5:n.599G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364063"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 525,
          "referenceAllele": "G",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000543821.5:n.525G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364230"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 332,
          "referenceAllele": "G",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000544360.5:n.332G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364518"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 484,
          "referenceAllele": "G",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000544387.5:c.364G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438424.1:p.Ala122Pro",
        "hgvsWellDefined": "ENSP00000438424.1:p.Ala122Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364535"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 658,
          "referenceAllele": "G",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000545621.5:c.*259G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444849.1:n.*259G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365197"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000546226.5:n.652G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365511"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 420,
          "referenceAllele": "G",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000546302.5:c.286G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445599.1:p.Ala96Pro",
        "hgvsWellDefined": "ENSP00000445599.1:p.Ala96Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365555"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580059786",
      "coordinates": [
        {
          "allele": "C",
          "end": 521,
          "referenceAllele": "G",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_000190.3:c.364G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000181.2:p.Ala122Pro",
        "hgvsWellDefined": "NP_000181.2:p.Ala122Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006252"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825333097",
      "coordinates": [
        {
          "allele": "C",
          "end": 423,
          "referenceAllele": "G",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001024382.1:c.313G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019553.1:p.Ala105Pro",
        "hgvsWellDefined": "NP_001019553.1:p.Ala105Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008754"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139690352",
      "coordinates": [
        {
          "allele": "C",
          "end": 521,
          "referenceAllele": "G",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258208.1:c.364G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245137.1:p.Ala122Pro",
        "hgvsWellDefined": "NP_001245137.1:p.Ala122Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019709"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826454959",
      "coordinates": [
        {
          "allele": "C",
          "end": 612,
          "referenceAllele": "G",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258209.1:c.313G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245138.1:p.Ala105Pro",
        "hgvsWellDefined": "NP_001245138.1:p.Ala105Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019710"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 599,
          "referenceAllele": "G",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271531.1:c.313G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271588.1:p.Ala105Pro",
        "hgvsWellDefined": "XP_005271588.1:p.Ala105Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066915"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 577,
          "referenceAllele": "G",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271532.1:c.313G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271589.1:p.Ala105Pro",
        "hgvsWellDefined": "XP_005271589.1:p.Ala105Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066916"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 468,
          "referenceAllele": "G",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271533.2:c.310G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271590.1:p.Ala104Pro",
        "hgvsWellDefined": "XP_005271590.1:p.Ala104Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066917"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 853,
          "referenceAllele": "G",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_011542796.1:c.199G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541098.1:p.Ala67Pro",
        "hgvsWellDefined": "XP_011541098.1:p.Ala67Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580059786",
      "coordinates": [
        {
          "allele": "C",
          "end": 517,
          "referenceAllele": "G",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_000190.4:c.364G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000181.2:p.Ala122Pro",
        "hgvsWellDefined": "NP_000181.2:p.Ala122Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510761",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652429.1:c.364G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000190.4:c.364G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498786.1:p.Ala122Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000181.2:p.Ala122Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825333097",
      "coordinates": [
        {
          "allele": "C",
          "end": 423,
          "referenceAllele": "G",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001024382.2:c.313G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019553.1:p.Ala105Pro",
        "hgvsWellDefined": "NP_001019553.1:p.Ala105Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511064"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 473,
          "referenceAllele": "G",
          "start": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271533.3:c.310G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271590.1:p.Ala104Pro",
        "hgvsWellDefined": "XP_005271590.1:p.Ala104Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 987,
          "referenceAllele": "G",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_017017629.1:c.313G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873118.1:p.Ala105Pro",
        "hgvsWellDefined": "XP_016873118.1:p.Ala105Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569772"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_024448460.1:c.310G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304228.1:p.Ala104Pro",
        "hgvsWellDefined": "XP_024304228.1:p.Ala104Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139690352",
      "coordinates": [
        {
          "allele": "C",
          "end": 517,
          "referenceAllele": "G",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258208.2:c.364G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245137.1:p.Ala122Pro",
        "hgvsWellDefined": "NP_001245137.1:p.Ala122Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826454959",
      "coordinates": [
        {
          "allele": "C",
          "end": 608,
          "referenceAllele": "G",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258209.2:c.313G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245138.1:p.Ala105Pro",
        "hgvsWellDefined": "NP_001245138.1:p.Ala105Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714914"
    }
  ],
  "type": "nucleotide"
}