{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA352288670",
  "communityStandardTitle": [
    "NM_152393.4(KLHL40):c.93G>C (p.Lys31Asn)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.42727203G>C?assembly=hg19",
        "id": "chr3:g.42727203G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.42685711G>C?assembly=hg38",
        "id": "chr3:g.42685711G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 42685711,
          "referenceAllele": "G",
          "start": 42685710
        }
      ],
      "hgvs": [
        "NC_000003.12:g.42685711G>C",
        "CM000665.2:g.42685711G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 42727203,
          "referenceAllele": "G",
          "start": 42727202
        }
      ],
      "hgvs": [
        "NC_000003.11:g.42727203G>C",
        "CM000665.1:g.42727203G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 42702207,
          "referenceAllele": "G",
          "start": 42702206
        }
      ],
      "hgvs": [
        "NC_000003.10:g.42702207G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5193,
          "referenceAllele": "G",
          "start": 5192
        }
      ],
      "hgvs": [
        "NG_033035.1:g.5193G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005368"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 175,
          "referenceAllele": "G",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030372",
      "geneNCBI_id": 131377,
      "geneSymbol": "KLHL40",
      "hgvs": [
        "ENST00000287777.5:c.93G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287777.4:p.Lys31Asn",
        "hgvsWellDefined": "ENSP00000287777.4:p.Lys31Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743917",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287777.5:c.93G>C"
          },
          "RefSeq": {
            "hgvs": "NM_152393.4:c.93G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287777.4:p.Lys31Asn"
          },
          "RefSeq": {
            "hgvs": "NP_689606.2:p.Lys31Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 193,
          "referenceAllele": "G",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030372",
      "geneNCBI_id": 131377,
      "geneSymbol": "KLHL40",
      "hgvs": [
        "ENST00000287777.4:c.93G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287777.4:p.Lys31Asn",
        "hgvsWellDefined": "ENSP00000287777.4:p.Lys31Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253469"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580520802",
      "coordinates": [
        {
          "allele": "C",
          "end": 193,
          "referenceAllele": "G",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030372",
      "geneNCBI_id": 131377,
      "geneSymbol": "KLHL40",
      "hgvs": [
        "NM_152393.3:c.93G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_689606.2:p.Lys31Asn",
        "hgvsWellDefined": "NP_689606.2:p.Lys31Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041841"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 175,
          "referenceAllele": "G",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030372",
      "geneNCBI_id": 131377,
      "geneSymbol": "KLHL40",
      "hgvs": [
        "XM_005264866.2:c.93G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264923.1:p.Lys31Asn",
        "hgvsWellDefined": "XP_005264923.1:p.Lys31Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580520802",
      "coordinates": [
        {
          "allele": "C",
          "end": 175,
          "referenceAllele": "G",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030372",
      "geneNCBI_id": 131377,
      "geneSymbol": "KLHL40",
      "hgvs": [
        "NM_152393.4:c.93G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_689606.2:p.Lys31Asn",
        "hgvsWellDefined": "NP_689606.2:p.Lys31Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700167",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287777.5:c.93G>C"
          },
          "RefSeq": {
            "hgvs": "NM_152393.4:c.93G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287777.4:p.Lys31Asn"
          },
          "RefSeq": {
            "hgvs": "NP_689606.2:p.Lys31Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}