{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA392027607",
  "communityStandardTitle": [
    "NM_138477.4(CDAN1):c.3389C>G (p.Pro1130Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.43017748G>C?assembly=hg19",
        "id": "chr15:g.43017748G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.42725550G>C?assembly=hg38",
        "id": "chr15:g.42725550G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80338699",
        "rs": 80338699
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-42725550-G-C?dataset=gnomad_r4",
        "id": "15-42725550-G-C",
        "variant": "15:42725550 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 42725550,
          "referenceAllele": "G",
          "start": 42725549
        }
      ],
      "hgvs": [
        "NC_000015.10:g.42725550G>C",
        "CM000677.2:g.42725550G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 43017748,
          "referenceAllele": "G",
          "start": 43017747
        }
      ],
      "hgvs": [
        "NC_000015.9:g.43017748G>C",
        "CM000677.1:g.43017748G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 40805040,
          "referenceAllele": "G",
          "start": 40805039
        }
      ],
      "hgvs": [
        "NC_000015.8:g.40805040G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16670,
          "referenceAllele": "C",
          "start": 16669
        }
      ],
      "hgvs": [
        "NG_012491.1:g.16670C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002419"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3415,
          "referenceAllele": "C",
          "start": 3414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001713",
      "geneNCBI_id": 146059,
      "geneSymbol": "CDAN1",
      "hgvs": [
        "ENST00000356231.4:c.3389C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348564.3:p.Pro1130Arg",
        "hgvsWellDefined": "ENSP00000348564.3:p.Pro1130Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748768",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356231.4:c.3389C>G"
          },
          "RefSeq": {
            "hgvs": "NM_138477.4:c.3389C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348564.3:p.Pro1130Arg"
          },
          "RefSeq": {
            "hgvs": "NP_612486.2:p.Pro1130Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2698,
          "referenceAllele": "C",
          "start": 2697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001713",
      "geneNCBI_id": 146059,
      "geneSymbol": "CDAN1",
      "hgvs": [
        "ENST00000643434.1:c.*2456C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494699.1:n.*2456C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767278"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3413,
          "referenceAllele": "C",
          "start": 3412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001713",
      "geneNCBI_id": 146059,
      "geneSymbol": "CDAN1",
      "hgvs": [
        "ENST00000356231.3:c.3389C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348564.3:p.Pro1130Arg",
        "hgvsWellDefined": "ENSP00000348564.3:p.Pro1130Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263694"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1335,
          "referenceAllele": "C",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001713",
      "geneNCBI_id": 146059,
      "geneSymbol": "CDAN1",
      "hgvs": [
        "ENST00000562465.5:c.1335C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454246.1:n.1335C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS376814"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 88,
          "referenceAllele": "C",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001713",
      "geneNCBI_id": 146059,
      "geneSymbol": "CDAN1",
      "hgvs": [
        "ENST00000563604.1:n.88C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081916599",
      "coordinates": [
        {
          "allele": "G",
          "end": 3506,
          "referenceAllele": "C",
          "start": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001713",
      "geneNCBI_id": 146059,
      "geneSymbol": "CDAN1",
      "hgvs": [
        "NM_138477.2:c.3389C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612486.2:p.Pro1130Arg",
        "hgvsWellDefined": "NP_612486.2:p.Pro1130Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040764"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3413,
          "referenceAllele": "C",
          "start": 3412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001713",
      "geneNCBI_id": 146059,
      "geneSymbol": "CDAN1",
      "hgvs": [
        "XM_005254176.3:c.3392C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254233.1:p.Pro1131Arg",
        "hgvsWellDefined": "XP_005254233.1:p.Pro1131Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060541"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3427,
          "referenceAllele": "C",
          "start": 3426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001713",
      "geneNCBI_id": 146059,
      "geneSymbol": "CDAN1",
      "hgvs": [
        "XM_011521270.1:c.3416C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519572.1:p.Pro1139Arg",
        "hgvsWellDefined": "XP_011519572.1:p.Pro1139Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088431"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3424,
          "referenceAllele": "C",
          "start": 3423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001713",
      "geneNCBI_id": 146059,
      "geneSymbol": "CDAN1",
      "hgvs": [
        "XM_011521271.1:c.3413C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519573.1:p.Pro1138Arg",
        "hgvsWellDefined": "XP_011519573.1:p.Pro1138Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088432"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2492,
          "referenceAllele": "C",
          "start": 2491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001713",
      "geneNCBI_id": 146059,
      "geneSymbol": "CDAN1",
      "hgvs": [
        "XM_011521274.1:c.2381C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519576.1:p.Pro794Arg",
        "hgvsWellDefined": "XP_011519576.1:p.Pro794Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2876,
          "referenceAllele": "C",
          "start": 2875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001713",
      "geneNCBI_id": 146059,
      "geneSymbol": "CDAN1",
      "hgvs": [
        "XM_011521275.1:c.2633C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519577.1:p.Pro878Arg",
        "hgvsWellDefined": "XP_011519577.1:p.Pro878Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088436"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081916599",
      "coordinates": [
        {
          "allele": "G",
          "end": 3415,
          "referenceAllele": "C",
          "start": 3414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001713",
      "geneNCBI_id": 146059,
      "geneSymbol": "CDAN1",
      "hgvs": [
        "NM_138477.4:c.3389C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_612486.2:p.Pro1130Arg",
        "hgvsWellDefined": "NP_612486.2:p.Pro1130Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526507",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356231.4:c.3389C>G"
          },
          "RefSeq": {
            "hgvs": "NM_138477.4:c.3389C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348564.3:p.Pro1130Arg"
          },
          "RefSeq": {
            "hgvs": "NP_612486.2:p.Pro1130Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3421,
          "referenceAllele": "C",
          "start": 3420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001713",
      "geneNCBI_id": 146059,
      "geneSymbol": "CDAN1",
      "hgvs": [
        "XM_005254176.5:c.3392C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254233.1:p.Pro1131Arg",
        "hgvsWellDefined": "XP_005254233.1:p.Pro1131Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534080"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3446,
          "referenceAllele": "C",
          "start": 3445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001713",
      "geneNCBI_id": 146059,
      "geneSymbol": "CDAN1",
      "hgvs": [
        "XM_011521270.2:c.3416C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519572.1:p.Pro1139Arg",
        "hgvsWellDefined": "XP_011519572.1:p.Pro1139Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546061"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3443,
          "referenceAllele": "C",
          "start": 3442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001713",
      "geneNCBI_id": 146059,
      "geneSymbol": "CDAN1",
      "hgvs": [
        "XM_011521271.2:c.3413C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519573.1:p.Pro1138Arg",
        "hgvsWellDefined": "XP_011519573.1:p.Pro1138Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546062"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2492,
          "referenceAllele": "C",
          "start": 2491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001713",
      "geneNCBI_id": 146059,
      "geneSymbol": "CDAN1",
      "hgvs": [
        "XM_011521274.2:c.2381C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519576.1:p.Pro794Arg",
        "hgvsWellDefined": "XP_011519576.1:p.Pro794Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546063"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3382,
          "referenceAllele": "C",
          "start": 3381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001713",
      "geneNCBI_id": 146059,
      "geneSymbol": "CDAN1",
      "hgvs": [
        "XR_001751104.1:n.3382C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598142"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3399,
          "referenceAllele": "C",
          "start": 3398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001713",
      "geneNCBI_id": 146059,
      "geneSymbol": "CDAN1",
      "hgvs": [
        "XR_001751105.1:n.3399C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598143"
    }
  ],
  "type": "nucleotide"
}