{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA354566890",
  "communityStandardTitle": [
    "NM_015268.4(DNAJC13):c.2564A>C (p.Asn855Thr)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.132196839A>C?assembly=hg19",
        "id": "chr3:g.132196839A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.132477995A>C?assembly=hg38",
        "id": "chr3:g.132477995A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387907571",
        "rs": 387907571
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-132477995-A-C?dataset=gnomad_r4",
        "id": "3-132477995-A-C",
        "variant": "3:132477995 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 132477995,
          "referenceAllele": "A",
          "start": 132477994
        }
      ],
      "hgvs": [
        "NC_000003.12:g.132477995A>C",
        "CM000665.2:g.132477995A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 132196839,
          "referenceAllele": "A",
          "start": 132196838
        }
      ],
      "hgvs": [
        "NC_000003.11:g.132196839A>C",
        "CM000665.1:g.132196839A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 133679529,
          "referenceAllele": "A",
          "start": 133679528
        }
      ],
      "hgvs": [
        "NC_000003.10:g.133679529A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 65469,
          "referenceAllele": "A",
          "start": 65468
        }
      ],
      "hgvs": [
        "NG_051045.1:g.65469A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616862"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2836,
          "referenceAllele": "A",
          "start": 2835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030343",
      "geneNCBI_id": 23317,
      "geneSymbol": "DNAJC13",
      "hgvs": [
        "ENST00000260818.11:c.2564A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260818.6:p.Asn855Thr",
        "hgvsWellDefined": "ENSP00000260818.6:p.Asn855Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742068",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260818.11:c.2564A>C"
          },
          "RefSeq": {
            "hgvs": "NM_015268.4:c.2564A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260818.6:p.Asn855Thr"
          },
          "RefSeq": {
            "hgvs": "NP_056083.3:p.Asn855Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2674,
          "referenceAllele": "A",
          "start": 2673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030343",
      "geneNCBI_id": 23317,
      "geneSymbol": "DNAJC13",
      "hgvs": [
        "ENST00000650455.1:c.*712A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496825.1:n.*712A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2812,
          "referenceAllele": "A",
          "start": 2811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030343",
      "geneNCBI_id": 23317,
      "geneSymbol": "DNAJC13",
      "hgvs": [
        "ENST00000260818.10:c.2564A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260818.6:p.Asn855Thr",
        "hgvsWellDefined": "ENSP00000260818.6:p.Asn855Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250638"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 401,
          "referenceAllele": "A",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030343",
      "geneNCBI_id": 23317,
      "geneSymbol": "DNAJC13",
      "hgvs": [
        "ENST00000464766.1:n.401A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308518"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068513988",
      "coordinates": [
        {
          "allele": "C",
          "end": 2629,
          "referenceAllele": "A",
          "start": 2628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030343",
      "geneNCBI_id": 23317,
      "geneSymbol": "DNAJC13",
      "hgvs": [
        "NM_015268.3:c.2564A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_056083.3:p.Asn855Thr",
        "hgvsWellDefined": "NP_056083.3:p.Asn855Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033881"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2821,
          "referenceAllele": "A",
          "start": 2820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030343",
      "geneNCBI_id": 23317,
      "geneSymbol": "DNAJC13",
      "hgvs": [
        "XM_005247245.3:c.2579A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247302.1:p.Asn860Thr",
        "hgvsWellDefined": "XP_005247302.1:p.Asn860Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057965"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2693,
          "referenceAllele": "A",
          "start": 2692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030343",
      "geneNCBI_id": 23317,
      "geneSymbol": "DNAJC13",
      "hgvs": [
        "NM_001329126.1:c.2579A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316055.1:p.Asn860Thr",
        "hgvsWellDefined": "NP_001316055.1:p.Asn860Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516163"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1086,
          "referenceAllele": "A",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030343",
      "geneNCBI_id": 23317,
      "geneSymbol": "DNAJC13",
      "hgvs": [
        "XM_017006036.1:c.533A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861525.1:p.Asn178Thr",
        "hgvsWellDefined": "XP_016861525.1:p.Asn178Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068513988",
      "coordinates": [
        {
          "allele": "C",
          "end": 2836,
          "referenceAllele": "A",
          "start": 2835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030343",
      "geneNCBI_id": 23317,
      "geneSymbol": "DNAJC13",
      "hgvs": [
        "NM_015268.4:c.2564A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_056083.3:p.Asn855Thr",
        "hgvsWellDefined": "NP_056083.3:p.Asn855Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668697",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260818.11:c.2564A>C"
          },
          "RefSeq": {
            "hgvs": "NM_015268.4:c.2564A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260818.6:p.Asn855Thr"
          },
          "RefSeq": {
            "hgvs": "NP_056083.3:p.Asn855Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2851,
          "referenceAllele": "A",
          "start": 2850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030343",
      "geneNCBI_id": 23317,
      "geneSymbol": "DNAJC13",
      "hgvs": [
        "NM_001329126.2:c.2579A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316055.1:p.Asn860Thr",
        "hgvsWellDefined": "NP_001316055.1:p.Asn860Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686525"
    }
  ],
  "type": "nucleotide"
}