{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2651722792",
  "communityStandardTitle": [
    "NM_025220.5(ADAM33):c.*525C>A"
  ],
  "externalRecords": {
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-3668438-G-T?dataset=gnomad_r4",
        "id": "20-3668438-G-T",
        "variant": "20:3668438 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 3668438,
          "referenceAllele": "G",
          "start": 3668437
        }
      ],
      "hgvs": [
        "NC_000020.11:g.3668438G>T",
        "CM000682.2:g.3668438G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 3649085,
          "referenceAllele": "G",
          "start": 3649084
        }
      ],
      "hgvs": [
        "NC_000020.10:g.3649085G>T",
        "CM000682.1:g.3649085G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 3597085,
          "referenceAllele": "G",
          "start": 3597084
        }
      ],
      "hgvs": [
        "NC_000020.9:g.3597085G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2973,
          "referenceAllele": "C",
          "start": 2972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "ENST00000356518.7:c.*525C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348912.3:n.*525C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356518.7:c.*525C>A"
          },
          "RefSeq": {
            "hgvs": "NM_025220.5:c.*525C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348912.3:n.*525C>A"
          },
          "RefSeq": {
            "hgvs": "NP_079496.1:n.*525C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3016,
          "referenceAllele": "C",
          "start": 3015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "ENST00000350009.6:c.*525C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322550.5:n.*525C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262646"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3209,
          "referenceAllele": "C",
          "start": 3208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "ENST00000356518.6:c.*525C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348912.2:n.*525C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263786"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3206,
          "referenceAllele": "C",
          "start": 3205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "ENST00000379861.8:c.*525C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369190.4:n.*525C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2528,
          "referenceAllele": "C",
          "start": 2527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "ENST00000466620.5:n.2528C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309947"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1890,
          "referenceAllele": "C",
          "start": 1889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "ENST00000483362.1:n.1890C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2731,
          "referenceAllele": "C",
          "start": 2730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "ENST00000619289.4:c.*525C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484600.1:n.*525C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404315"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3091,
          "referenceAllele": "C",
          "start": 3090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "NM_001282447.1:c.*525C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269376.1:n.*525C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021947"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3094,
          "referenceAllele": "C",
          "start": 3093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "NM_025220.3:c.*525C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_079496.1:n.*525C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038281"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3016,
          "referenceAllele": "C",
          "start": 3015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "NM_153202.2:c.*525C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_694882.1:n.*525C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3110,
          "referenceAllele": "C",
          "start": 3109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XM_005260843.1:c.*525C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260900.1:n.*525C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062946"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3107,
          "referenceAllele": "C",
          "start": 3106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XM_006723639.1:c.*525C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723702.1:n.*525C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3101,
          "referenceAllele": "C",
          "start": 3100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XM_006723640.1:c.*525C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723703.1:n.*525C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075137"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3009,
          "referenceAllele": "C",
          "start": 3008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XM_011529366.1:c.*525C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527668.1:n.*525C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2970,
          "referenceAllele": "C",
          "start": 2969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XM_011529367.1:c.*525C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527669.1:n.*525C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096436"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3032,
          "referenceAllele": "C",
          "start": 3031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XM_011529368.1:c.*525C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527670.1:n.*525C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096437"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3084,
          "referenceAllele": "C",
          "start": 3083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XM_011529373.1:c.*525C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527675.1:n.*525C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096442"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2988,
          "referenceAllele": "C",
          "start": 2987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XR_937153.1:n.2988C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2988,
          "referenceAllele": "C",
          "start": 2987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XR_937154.1:n.2988C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2909,
          "referenceAllele": "C",
          "start": 2908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XR_937155.1:n.2909C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132132"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2911,
          "referenceAllele": "C",
          "start": 2910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XR_937157.1:n.2911C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3650,
          "referenceAllele": "C",
          "start": 3649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "NM_001282447.2:c.*525C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269376.1:n.*525C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512099"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3653,
          "referenceAllele": "C",
          "start": 3652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "NM_025220.4:c.*525C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_079496.1:n.*525C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526229"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3575,
          "referenceAllele": "C",
          "start": 3574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "NM_153202.3:c.*525C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_694882.1:n.*525C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526696"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3080,
          "referenceAllele": "C",
          "start": 3079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XM_011529373.2:c.*525C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527675.1:n.*525C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549479"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3075,
          "referenceAllele": "C",
          "start": 3074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XR_001754405.1:n.3075C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600557"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3184,
          "referenceAllele": "C",
          "start": 3183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "XR_002958534.1:n.3184C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604659"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2970,
          "referenceAllele": "C",
          "start": 2969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "NM_001282447.3:c.*525C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269376.1:n.*525C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681779"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2973,
          "referenceAllele": "C",
          "start": 2972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "NM_025220.5:c.*525C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_079496.1:n.*525C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698839",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356518.7:c.*525C>A"
          },
          "RefSeq": {
            "hgvs": "NM_025220.5:c.*525C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348912.3:n.*525C>A"
          },
          "RefSeq": {
            "hgvs": "NP_079496.1:n.*525C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2895,
          "referenceAllele": "C",
          "start": 2894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015478",
      "geneNCBI_id": 80332,
      "geneSymbol": "ADAM33",
      "hgvs": [
        "NM_153202.4:c.*525C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_694882.1:n.*525C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700319"
    }
  ],
  "type": "nucleotide"
}