{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA370166813",
  "communityStandardTitle": [
    "NM_058246.4(DNAJB6):c.590T>A (p.Met197Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2856906[alleleid]",
        "alleleId": 2856906,
        "preferredName": "NM_058246.4(DNAJB6):c.590T>A (p.Met197Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2705769",
        "RCV": [
          "RCV003525678"
        ],
        "variationId": 2705769
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.157177672T>A?assembly=hg19",
        "id": "chr7:g.157177672T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.157384978T>A?assembly=hg38",
        "id": "chr7:g.157384978T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1173635396",
        "rs": 1173635396
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-157384978-T-A?dataset=gnomad_r3",
        "id": "7-157384978-T-A",
        "variant": "7:157384978 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-157384978-T-A?dataset=gnomad_r4",
        "id": "7-157384978-T-A",
        "variant": "7:157384978 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 157384978,
          "referenceAllele": "T",
          "start": 157384977
        }
      ],
      "hgvs": [
        "NC_000007.14:g.157384978T>A",
        "CM000669.2:g.157384978T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 157177672,
          "referenceAllele": "T",
          "start": 157177671
        }
      ],
      "hgvs": [
        "NC_000007.13:g.157177672T>A",
        "CM000669.1:g.157177672T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 156870433,
          "referenceAllele": "T",
          "start": 156870432
        }
      ],
      "hgvs": [
        "NC_000007.12:g.156870433T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 52963,
          "referenceAllele": "T",
          "start": 52962
        }
      ],
      "hgvs": [
        "NG_032573.1:g.52963T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005170"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 757,
          "referenceAllele": "T",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014888",
      "geneNCBI_id": 10049,
      "geneSymbol": "DNAJB6",
      "hgvs": [
        "ENST00000262177.9:c.590T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262177.4:p.Met197Lys",
        "hgvsWellDefined": "ENSP00000262177.4:p.Met197Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742289",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262177.9:c.590T>A"
          },
          "RefSeq": {
            "hgvs": "NM_058246.4:c.590T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262177.4:p.Met197Lys"
          },
          "RefSeq": {
            "hgvs": "NP_490647.1:p.Met197Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 795,
          "referenceAllele": "T",
          "start": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014888",
      "geneNCBI_id": 10049,
      "geneSymbol": "DNAJB6",
      "hgvs": [
        "ENST00000262177.8:c.590T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262177.4:p.Met197Lys",
        "hgvsWellDefined": "ENSP00000262177.4:p.Met197Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250948"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 757,
          "referenceAllele": "T",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014888",
      "geneNCBI_id": 10049,
      "geneSymbol": "DNAJB6",
      "hgvs": [
        "ENST00000417758.5:c.590T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400665.1:p.Met197Lys",
        "hgvsWellDefined": "ENSP00000400665.1:p.Met197Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285077"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 795,
          "referenceAllele": "T",
          "start": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014888",
      "geneNCBI_id": 10049,
      "geneSymbol": "DNAJB6",
      "hgvs": [
        "ENST00000429029.6:c.590T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397556.2:p.Met197Lys",
        "hgvsWellDefined": "ENSP00000397556.2:p.Met197Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290476"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 492,
          "endIntronDirection": "+",
          "endIntronOffset": 17495,
          "referenceAllele": "T",
          "start": 492,
          "startIntronDirection": "+",
          "startIntronOffset": 17494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014888",
      "geneNCBI_id": 10049,
      "geneSymbol": "DNAJB6",
      "hgvs": [
        "ENST00000443280.5:c.346+17495T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396267.1:n.346+17495T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297266"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 738,
          "referenceAllele": "T",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014888",
      "geneNCBI_id": 10049,
      "geneSymbol": "DNAJB6",
      "hgvs": [
        "ENST00000459889.5:c.590T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488263.1:p.Met197Lys",
        "hgvsWellDefined": "ENSP00000488263.1:p.Met197Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304755"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 386,
          "referenceAllele": "T",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014888",
      "geneNCBI_id": 10049,
      "geneSymbol": "DNAJB6",
      "hgvs": [
        "ENST00000465908.5:n.386T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309410"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 895,
          "referenceAllele": "T",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014888",
      "geneNCBI_id": 10049,
      "geneSymbol": "DNAJB6",
      "hgvs": [
        "ENST00000468928.5:n.895T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4365,
          "referenceAllele": "T",
          "start": 4364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014888",
      "geneNCBI_id": 10049,
      "geneSymbol": "DNAJB6",
      "hgvs": [
        "ENST00000487480.1:n.4365T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 590,
          "referenceAllele": "T",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014888",
      "geneNCBI_id": 10049,
      "geneSymbol": "DNAJB6",
      "hgvs": [
        "ENST00000634080.1:c.590T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488740.1:p.Met197Lys",
        "hgvsWellDefined": "ENSP00000488740.1:p.Met197Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829591671",
      "coordinates": [
        {
          "allele": "A",
          "end": 745,
          "referenceAllele": "T",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014888",
      "geneNCBI_id": 10049,
      "geneSymbol": "DNAJB6",
      "hgvs": [
        "NM_005494.2:c.590T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005485.1:p.Met197Lys",
        "hgvsWellDefined": "NP_005485.1:p.Met197Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030586"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741997805",
      "coordinates": [
        {
          "allele": "A",
          "end": 744,
          "referenceAllele": "T",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014888",
      "geneNCBI_id": 10049,
      "geneSymbol": "DNAJB6",
      "hgvs": [
        "NM_058246.3:c.590T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_490647.1:p.Met197Lys",
        "hgvsWellDefined": "NP_490647.1:p.Met197Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040111"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 736,
          "referenceAllele": "T",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014888",
      "geneNCBI_id": 10049,
      "geneSymbol": "DNAJB6",
      "hgvs": [
        "XM_005249515.2:c.590T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249572.1:p.Met197Lys",
        "hgvsWellDefined": "XP_005249572.1:p.Met197Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058854"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 880,
          "referenceAllele": "T",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014888",
      "geneNCBI_id": 10049,
      "geneSymbol": "DNAJB6",
      "hgvs": [
        "XM_005249516.2:c.590T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249573.1:p.Met197Lys",
        "hgvsWellDefined": "XP_005249573.1:p.Met197Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 736,
          "referenceAllele": "T",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014888",
      "geneNCBI_id": 10049,
      "geneSymbol": "DNAJB6",
      "hgvs": [
        "XM_006715823.1:c.590T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715886.1:p.Met197Lys",
        "hgvsWellDefined": "XP_006715886.1:p.Met197Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 715,
          "referenceAllele": "T",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014888",
      "geneNCBI_id": 10049,
      "geneSymbol": "DNAJB6",
      "hgvs": [
        "XM_011515704.1:c.590T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514006.1:p.Met197Lys",
        "hgvsWellDefined": "XP_011514006.1:p.Met197Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082923"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 513,
          "endIntronDirection": "+",
          "endIntronOffset": 17495,
          "referenceAllele": "T",
          "start": 513,
          "startIntronDirection": "+",
          "startIntronOffset": 17494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014888",
      "geneNCBI_id": 10049,
      "geneSymbol": "DNAJB6",
      "hgvs": [
        "NM_001363676.1:c.346+17495T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350605.1:n.346+17495T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523471"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 748,
          "referenceAllele": "T",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014888",
      "geneNCBI_id": 10049,
      "geneSymbol": "DNAJB6",
      "hgvs": [
        "XM_005249515.3:c.590T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005249572.1:p.Met197Lys",
        "hgvsWellDefined": "XP_005249572.1:p.Met197Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 748,
          "referenceAllele": "T",
          "start": 747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014888",
      "geneNCBI_id": 10049,
      "geneSymbol": "DNAJB6",
      "hgvs": [
        "XM_006715823.2:c.590T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715886.1:p.Met197Lys",
        "hgvsWellDefined": "XP_006715886.1:p.Met197Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539036"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741997805",
      "coordinates": [
        {
          "allele": "A",
          "end": 757,
          "referenceAllele": "T",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014888",
      "geneNCBI_id": 10049,
      "geneSymbol": "DNAJB6",
      "hgvs": [
        "NM_058246.4:c.590T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_490647.1:p.Met197Lys",
        "hgvsWellDefined": "NP_490647.1:p.Met197Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671708",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262177.9:c.590T>A"
          },
          "RefSeq": {
            "hgvs": "NM_058246.4:c.590T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262177.4:p.Met197Lys"
          },
          "RefSeq": {
            "hgvs": "NP_490647.1:p.Met197Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829591671",
      "coordinates": [
        {
          "allele": "A",
          "end": 757,
          "referenceAllele": "T",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014888",
      "geneNCBI_id": 10049,
      "geneSymbol": "DNAJB6",
      "hgvs": [
        "NM_005494.3:c.590T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005485.1:p.Met197Lys",
        "hgvsWellDefined": "NP_005485.1:p.Met197Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696435"
    }
  ],
  "type": "nucleotide"
}