{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA144651",
  "communityStandardTitle": [
    "NM_005548.3(KARS1):c.1045G>A (p.Asp349Asn)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=349244",
        "active": true,
        "id": "COSM349244"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=75293[alleleid]",
        "alleleId": 75293,
        "preferredName": "NM_005548.3(KARS1):c.1045G>A (p.Asp349Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/60753",
        "RCV": [
          "RCV000054526",
          "RCV001775565"
        ],
        "variationId": 60753
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.75665624C>T?assembly=hg19",
        "id": "chr16:g.75665624C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.75631726C>T?assembly=hg38",
        "id": "chr16:g.75631726C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397514746",
        "rs": 397514746
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-75665624-C-T?dataset=gnomad_r2_1",
        "id": "16-75665624-C-T",
        "variant": "16:75665624 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-75631726-C-T?dataset=gnomad_r3",
        "id": "16-75631726-C-T",
        "variant": "16:75631726 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-75631726-C-T?dataset=gnomad_r4",
        "id": "16-75631726-C-T",
        "variant": "16:75631726 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 75631726,
          "referenceAllele": "C",
          "start": 75631725
        }
      ],
      "hgvs": [
        "NC_000016.10:g.75631726C>T",
        "CM000678.2:g.75631726C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 75665624,
          "referenceAllele": "C",
          "start": 75665623
        }
      ],
      "hgvs": [
        "NC_000016.9:g.75665624C>T",
        "CM000678.1:g.75665624C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 74223125,
          "referenceAllele": "C",
          "start": 74223124
        }
      ],
      "hgvs": [
        "NC_000016.8:g.74223125C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20962,
          "referenceAllele": "G",
          "start": 20961
        }
      ],
      "hgvs": [
        "NG_028025.1:g.20962G>A",
        "LRG_366:g.20962G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004041"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1071,
          "referenceAllele": "G",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006215",
      "geneNCBI_id": 3735,
      "geneSymbol": "KARS1",
      "hgvs": [
        "ENST00000302445.8:c.1045G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303043.3:p.Asp349Asn",
        "hgvsWellDefined": "ENSP00000303043.3:p.Asp349Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744945",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302445.8:c.1045G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005548.3:c.1045G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303043.3:p.Asp349Asn"
          },
          "RefSeq": {
            "hgvs": "NP_005539.1:p.Asp349Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1085,
          "referenceAllele": "G",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006215",
      "geneNCBI_id": 3735,
      "geneSymbol": "KARS1",
      "hgvs": [
        "ENST00000302445.7:c.1045G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303043.3:p.Asp349Asn",
        "hgvsWellDefined": "ENSP00000303043.3:p.Asp349Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255178"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1251,
          "referenceAllele": "G",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006215",
      "geneNCBI_id": 3735,
      "geneSymbol": "KARS1",
      "hgvs": [
        "ENST00000319410.9:c.1129G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325448.5:p.Asp377Asn",
        "hgvsWellDefined": "ENSP00000325448.5:p.Asp377Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257667"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 797,
          "referenceAllele": "G",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006215",
      "geneNCBI_id": 3735,
      "geneSymbol": "KARS1",
      "hgvs": [
        "ENST00000562875.5:c.*554G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456185.1:n.*554G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377063"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1068,
          "referenceAllele": "G",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006215",
      "geneNCBI_id": 3735,
      "geneSymbol": "KARS1",
      "hgvs": [
        "ENST00000564578.5:c.*588G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455818.1:n.*588G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378181"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 227,
          "endIntronDirection": "-",
          "endIntronOffset": 3736,
          "referenceAllele": "G",
          "start": 227,
          "startIntronDirection": "-",
          "startIntronOffset": 3737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006215",
      "geneNCBI_id": 3735,
      "geneSymbol": "KARS1",
      "hgvs": [
        "ENST00000568378.5:c.147-3737G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454512.1:n.147-3737G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA144653",
      "coordinates": [
        {
          "allele": "A",
          "end": 1273,
          "referenceAllele": "G",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006215",
      "geneNCBI_id": 3735,
      "geneSymbol": "KARS1",
      "hgvs": [
        "NM_001130089.1:c.1129G>A",
        "LRG_366t1:c.1129G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123561.1:p.Asp377Asn",
        "hgvsWellDefined": "NP_001123561.1:p.Asp377Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011972"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103823",
      "coordinates": [
        {
          "allele": "A",
          "end": 1093,
          "referenceAllele": "G",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006215",
      "geneNCBI_id": 3735,
      "geneSymbol": "KARS1",
      "hgvs": [
        "NM_005548.2:c.1045G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005539.1:p.Asp349Asn",
        "hgvsWellDefined": "NP_005539.1:p.Asp349Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030639"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1185,
          "referenceAllele": "G",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006215",
      "geneNCBI_id": 3735,
      "geneSymbol": "KARS1",
      "hgvs": [
        "XM_017023217.1:c.577G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878706.1:p.Asp193Asn",
        "hgvsWellDefined": "XP_016878706.1:p.Asp193Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA144653",
      "coordinates": [
        {
          "allele": "A",
          "end": 1251,
          "referenceAllele": "G",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006215",
      "geneNCBI_id": 3735,
      "geneSymbol": "KARS1",
      "hgvs": [
        "NM_001130089.2:c.1129G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123561.1:p.Asp377Asn",
        "hgvsWellDefined": "NP_001123561.1:p.Asp377Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712317"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828741420",
      "coordinates": [
        {
          "allele": "A",
          "end": 1185,
          "referenceAllele": "G",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006215",
      "geneNCBI_id": 3735,
      "geneSymbol": "KARS1",
      "hgvs": [
        "NM_001378148.1:c.577G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365077.1:p.Asp193Asn",
        "hgvsWellDefined": "NP_001365077.1:p.Asp193Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103823",
      "coordinates": [
        {
          "allele": "A",
          "end": 1071,
          "referenceAllele": "G",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006215",
      "geneNCBI_id": 3735,
      "geneSymbol": "KARS1",
      "hgvs": [
        "NM_005548.3:c.1045G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005539.1:p.Asp349Asn",
        "hgvsWellDefined": "NP_005539.1:p.Asp349Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727647",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302445.8:c.1045G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005548.3:c.1045G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303043.3:p.Asp349Asn"
          },
          "RefSeq": {
            "hgvs": "NP_005539.1:p.Asp349Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}