{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA117421",
  "communityStandardTitle": [
    "NM_004795.4(KL):c.578A>G (p.His193Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20385[alleleid]",
        "alleleId": 20385,
        "preferredName": "NM_004795.4(KL):c.578A>G (p.His193Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5346",
        "RCV": [
          "RCV000005675",
          "RCV000758698",
          "RCV003555927"
        ],
        "variationId": 5346
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-33591156-A-G",
        "id": "13-33591156-A-G",
        "variant": "13:33591156 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.33591156A>G?assembly=hg19",
        "id": "chr13:g.33591156A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.33017018A>G?assembly=hg38",
        "id": "chr13:g.33017018A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908423",
        "rs": 121908423
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-33591156-A-G?dataset=gnomad_r2_1",
        "id": "13-33591156-A-G",
        "variant": "13:33591156 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-33017018-A-G?dataset=gnomad_r3",
        "id": "13-33017018-A-G",
        "variant": "13:33017018 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-33017018-A-G?dataset=gnomad_r4",
        "id": "13-33017018-A-G",
        "variant": "13:33017018 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 33017018,
          "referenceAllele": "A",
          "start": 33017017
        }
      ],
      "hgvs": [
        "NC_000013.11:g.33017018A>G",
        "CM000675.2:g.33017018A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 33591156,
          "referenceAllele": "A",
          "start": 33591155
        }
      ],
      "hgvs": [
        "NC_000013.10:g.33591156A>G",
        "CM000675.1:g.33591156A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 32489156,
          "referenceAllele": "A",
          "start": 32489155
        }
      ],
      "hgvs": [
        "NC_000013.9:g.32489156A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5586,
          "referenceAllele": "A",
          "start": 5585
        }
      ],
      "hgvs": [
        "NG_011485.1:g.5586A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001753"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 596,
          "referenceAllele": "A",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006344",
      "geneNCBI_id": 9365,
      "geneSymbol": "KL",
      "hgvs": [
        "ENST00000380099.4:c.578A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369442.3:p.His193Arg",
        "hgvsWellDefined": "ENSP00000369442.3:p.His193Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752336",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380099.4:c.578A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004795.4:c.578A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369442.3:p.His193Arg"
          },
          "RefSeq": {
            "hgvs": "NP_004786.2:p.His193Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 586,
          "referenceAllele": "A",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006344",
      "geneNCBI_id": 9365,
      "geneSymbol": "KL",
      "hgvs": [
        "ENST00000380099.3:c.578A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369442.3:p.His193Arg",
        "hgvsWellDefined": "ENSP00000369442.3:p.His193Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272777"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 586,
          "referenceAllele": "A",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006344",
      "geneNCBI_id": 9365,
      "geneSymbol": "KL",
      "hgvs": [
        "ENST00000487852.1:n.586A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326317"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097659",
      "coordinates": [
        {
          "allele": "G",
          "end": 586,
          "referenceAllele": "A",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006344",
      "geneNCBI_id": 9365,
      "geneSymbol": "KL",
      "hgvs": [
        "NM_004795.3:c.578A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004786.2:p.His193Arg",
        "hgvsWellDefined": "NP_004786.2:p.His193Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029942"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 251,
          "endIntronDirection": "+",
          "endIntronOffset": 705,
          "referenceAllele": "A",
          "start": 251,
          "startIntronDirection": "+",
          "startIntronOffset": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006344",
      "geneNCBI_id": 9365,
      "geneSymbol": "KL",
      "hgvs": [
        "XM_006719895.1:c.-103+705A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719958.1:n.-103+705A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073381"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 251,
          "endIntronDirection": "+",
          "endIntronOffset": 705,
          "referenceAllele": "A",
          "start": 251,
          "startIntronDirection": "+",
          "startIntronOffset": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006344",
      "geneNCBI_id": 9365,
      "geneSymbol": "KL",
      "hgvs": [
        "XM_006719895.2:c.-103+705A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719958.1:n.-103+705A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097659",
      "coordinates": [
        {
          "allele": "G",
          "end": 596,
          "referenceAllele": "A",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006344",
      "geneNCBI_id": 9365,
      "geneSymbol": "KL",
      "hgvs": [
        "NM_004795.4:c.578A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004786.2:p.His193Arg",
        "hgvsWellDefined": "NP_004786.2:p.His193Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666660",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380099.4:c.578A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004795.4:c.578A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369442.3:p.His193Arg"
          },
          "RefSeq": {
            "hgvs": "NP_004786.2:p.His193Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}