{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA232436881",
  "communityStandardTitle": [
    "NM_138425.4(C12orf57):c.53-1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=527347[alleleid]",
        "alleleId": 527347,
        "preferredName": "NM_138425.4(C12orf57):c.53-1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/534668",
        "RCV": [
          "RCV000642298"
        ],
        "variationId": 534668
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.7053638G>A?assembly=hg19",
        "id": "chr12:g.7053638G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.6944475G>A?assembly=hg38",
        "id": "chr12:g.6944475G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374836404",
        "rs": 374836404
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-6944475-G-A?dataset=gnomad_r3",
        "id": "12-6944475-G-A",
        "variant": "12:6944475 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-6944475-G-A?dataset=gnomad_r4",
        "id": "12-6944475-G-A",
        "variant": "12:6944475 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 6944475,
          "referenceAllele": "G",
          "start": 6944474
        }
      ],
      "hgvs": [
        "NC_000012.12:g.6944475G>A",
        "CM000674.2:g.6944475G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 7053638,
          "referenceAllele": "G",
          "start": 7053637
        }
      ],
      "hgvs": [
        "NC_000012.11:g.7053638G>A",
        "CM000674.1:g.7053638G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 6923899,
          "referenceAllele": "G",
          "start": 6923898
        }
      ],
      "hgvs": [
        "NC_000012.10:g.6923899G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5659,
          "referenceAllele": "G",
          "start": 5658
        }
      ],
      "hgvs": [
        "NG_034262.1:g.5659G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005836"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 152,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 152,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029521",
      "geneNCBI_id": 113246,
      "geneSymbol": "C12orf57",
      "hgvs": [
        "ENST00000229281.6:c.53-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000229281.5:n.53-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740786",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000229281.6:c.53-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_138425.4:c.53-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000229281.5:n.53-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_612434.1:n.53-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 151,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 151,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029521",
      "geneNCBI_id": 113246,
      "geneSymbol": "C12orf57",
      "hgvs": [
        "ENST00000229281.5:c.53-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000229281.5:n.53-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248680"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 340,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 340,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029521",
      "geneNCBI_id": 113246,
      "geneSymbol": "C12orf57",
      "hgvs": [
        "ENST00000537087.5:c.53-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440937.1:n.53-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360595"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 388,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 388,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029521",
      "geneNCBI_id": 113246,
      "geneSymbol": "C12orf57",
      "hgvs": [
        "ENST00000538392.1:n.389-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 148,
          "referenceAllele": "G",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029521",
      "geneNCBI_id": 113246,
      "geneSymbol": "C12orf57",
      "hgvs": [
        "ENST00000540506.2:c.-54G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475635.1:n.-54G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362436"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 230,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 230,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029521",
      "geneNCBI_id": 113246,
      "geneSymbol": "C12orf57",
      "hgvs": [
        "ENST00000542222.1:n.231-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363337"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 357,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 357,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029521",
      "geneNCBI_id": 113246,
      "geneSymbol": "C12orf57",
      "hgvs": [
        "ENST00000544681.1:c.53-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475422.1:n.53-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364695"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 228,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 228,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029521",
      "geneNCBI_id": 113246,
      "geneSymbol": "C12orf57",
      "hgvs": [
        "ENST00000545581.5:c.53-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440602.1:n.53-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365175"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 228,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 228,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029521",
      "geneNCBI_id": 113246,
      "geneSymbol": "C12orf57",
      "hgvs": [
        "NM_001301834.1:c.53-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288763.1:n.53-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025250"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 225,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 225,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029521",
      "geneNCBI_id": 113246,
      "geneSymbol": "C12orf57",
      "hgvs": [
        "NM_001301836.1:c.14-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288765.1:n.14-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 357,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 357,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029521",
      "geneNCBI_id": 113246,
      "geneSymbol": "C12orf57",
      "hgvs": [
        "NM_001301837.1:c.53-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288766.1:n.53-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 453,
          "referenceAllele": "G",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029521",
      "geneNCBI_id": 113246,
      "geneSymbol": "C12orf57",
      "hgvs": [
        "NM_001301838.1:c.-54G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288767.1:n.-54G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025253"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 357,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 357,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029521",
      "geneNCBI_id": 113246,
      "geneSymbol": "C12orf57",
      "hgvs": [
        "NM_138425.3:c.53-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_612434.1:n.53-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 453,
          "referenceAllele": "G",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029521",
      "geneNCBI_id": 113246,
      "geneSymbol": "C12orf57",
      "hgvs": [
        "NR_126035.1:n.453G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS056131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 152,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 152,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029521",
      "geneNCBI_id": 113246,
      "geneSymbol": "C12orf57",
      "hgvs": [
        "NM_138425.4:c.53-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_612434.1:n.53-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671902",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000229281.6:c.53-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_138425.4:c.53-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000229281.5:n.53-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_612434.1:n.53-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 230,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 230,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029521",
      "geneNCBI_id": 113246,
      "geneSymbol": "C12orf57",
      "hgvs": [
        "NM_001301836.2:c.14-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288765.1:n.14-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716975"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 152,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 152,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029521",
      "geneNCBI_id": 113246,
      "geneSymbol": "C12orf57",
      "hgvs": [
        "NM_001301837.2:c.53-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288766.1:n.53-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716976"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 248,
          "referenceAllele": "G",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029521",
      "geneNCBI_id": 113246,
      "geneSymbol": "C12orf57",
      "hgvs": [
        "NM_001301838.2:c.-54G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288767.1:n.-54G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716977"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 248,
          "referenceAllele": "G",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029521",
      "geneNCBI_id": 113246,
      "geneSymbol": "C12orf57",
      "hgvs": [
        "NR_126035.2:n.248G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730763"
    }
  ],
  "type": "nucleotide"
}