{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA382892088",
  "communityStandardTitle": [
    "NM_000190.4(HMBS):c.345-1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=652103[alleleid]",
        "alleleId": 652103,
        "preferredName": "NM_000190.4(HMBS):c.345-1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/664103",
        "RCV": [
          "RCV000822122"
        ],
        "variationId": 664103
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.118960699G>A?assembly=hg19",
        "id": "chr11:g.118960699G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.119089989G>A?assembly=hg38",
        "id": "chr11:g.119089989G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1286913162",
        "rs": 1286913162
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119089989-G-A?dataset=gnomad_r3",
        "id": "11-119089989-G-A",
        "variant": "11:119089989 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-119089989-G-A?dataset=gnomad_r4",
        "id": "11-119089989-G-A",
        "variant": "11:119089989 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 119089989,
          "referenceAllele": "G",
          "start": 119089988
        }
      ],
      "hgvs": [
        "NC_000011.10:g.119089989G>A",
        "CM000673.2:g.119089989G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 118960699,
          "referenceAllele": "G",
          "start": 118960698
        }
      ],
      "hgvs": [
        "NC_000011.9:g.118960699G>A",
        "CM000673.1:g.118960699G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 118465909,
          "referenceAllele": "G",
          "start": 118465908
        }
      ],
      "hgvs": [
        "NC_000011.8:g.118465909G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10113,
          "referenceAllele": "G",
          "start": 10112
        }
      ],
      "hgvs": [
        "NG_008093.1:g.10113G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000838"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 880,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 880,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000686218.1:c.180-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509288.1:n.180-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1194,
          "referenceAllele": "G",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000686690.1:n.1194G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830701"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2085,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2085,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000691144.1:n.2086-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833066"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 928,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 928,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000691249.1:n.929-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833122"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 477,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 477,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000442944.7:c.327-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392041.3:n.327-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755929"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 293,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 293,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000534956.2:n.294-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759423"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 550,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 550,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000536813.6:c.294-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438726.2:n.294-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759503"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 400,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 400,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000546302.6:c.267-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445599.1:n.267-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 480,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 480,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000640813.1:c.294-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491061.1:n.294-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765686"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 338,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 338,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000648026.1:c.339-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498044.1:n.339-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769748"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 471,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 471,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000648374.1:c.294-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497255.1:n.294-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769943"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 403,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 403,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000648488.1:c.294-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498079.1:n.294-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 561,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 561,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000649823.1:n.562-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770778"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 234,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 234,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000649868.1:c.*53-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497548.1:n.*53-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770810"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 965,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 965,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000650101.1:c.276-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496970.1:n.276-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770934"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1170,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1170,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000650307.1:n.1171-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 497,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 497,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000652429.1:c.345-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498786.1:n.345-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652429.1:c.345-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000190.4:c.345-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498786.1:n.345-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000181.2:n.345-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 495,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 495,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000278715.7:c.345-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278715.3:n.345-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 403,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 403,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000392841.1:c.294-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376584.1:n.294-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275314"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 556,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 556,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000442944.6:c.294-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392041.2:n.294-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297113"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 260,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 260,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000534956.1:n.261-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359450"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 487,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 487,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000535253.5:c.294-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442079.1:n.294-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359618"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 550,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 550,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000535793.5:c.*240-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439904.1:n.*240-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 475,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 475,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000536813.5:c.327-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438726.1:n.327-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360446"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 584,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 584,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000537841.5:c.294-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444730.1:n.294-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000539986.5:c.294-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440092.1:n.294-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362162"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 789,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 789,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542044.5:n.790-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363250"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 482,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 482,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542345.5:n.483-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363405"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 584,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 584,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542729.5:c.294-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443058.1:n.294-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363623"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 653,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 653,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000542822.5:c.*281-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444817.1:n.*281-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363672"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 394,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 394,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000543090.5:c.291-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445429.1:n.291-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 579,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 579,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000543543.5:n.580-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 505,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 505,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000543821.5:n.506-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364230"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 312,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 312,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000544360.5:n.313-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 464,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 464,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000544387.5:c.345-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438424.1:n.345-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 638,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 638,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000545621.5:c.*240-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444849.1:n.*240-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 632,
          "referenceAllele": "G",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000546226.5:n.632G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365511"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 400,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 400,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "ENST00000546302.5:c.267-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445599.1:n.267-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 501,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 501,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_000190.3:c.345-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000181.2:n.345-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 403,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 403,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001024382.1:c.294-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019553.1:n.294-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008754"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 501,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 501,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258208.1:c.345-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245137.1:n.345-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019709"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 592,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 592,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258209.1:c.294-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245138.1:n.294-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019710"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 579,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 579,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271531.1:c.294-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271588.1:n.294-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066915"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 557,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 557,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271532.1:c.294-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271589.1:n.294-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066916"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 448,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 448,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271533.2:c.291-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271590.1:n.291-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066917"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 833,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 833,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_011542796.1:c.180-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541098.1:n.180-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 497,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 497,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_000190.4:c.345-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000181.2:n.345-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510761",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652429.1:c.345-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000190.4:c.345-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498786.1:n.345-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000181.2:n.345-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 403,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 403,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001024382.2:c.294-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019553.1:n.294-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511064"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 453,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 453,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_005271533.3:c.291-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271590.1:n.291-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 967,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 967,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_017017629.1:c.294-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873118.1:n.294-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 460,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 460,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "XM_024448460.1:c.291-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304228.1:n.291-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582031"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 497,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 497,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258208.2:c.345-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245137.1:n.345-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 588,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 588,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004982",
      "geneNCBI_id": 3145,
      "geneSymbol": "HMBS",
      "hgvs": [
        "NM_001258209.2:c.294-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245138.1:n.294-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714914"
    }
  ],
  "type": "nucleotide"
}