{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA376375933",
  "communityStandardTitle": [
    "NM_014263.4(YME1L1):c.445C>G (p.Arg149Gly)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.27425300G>C?assembly=hg19",
        "id": "chr10:g.27425300G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.27136371G>C?assembly=hg38",
        "id": "chr10:g.27136371G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519312",
        "rs": 1057519312
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 27136371,
          "referenceAllele": "G",
          "start": 27136370
        }
      ],
      "hgvs": [
        "NC_000010.11:g.27136371G>C",
        "CM000672.2:g.27136371G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 27425300,
          "referenceAllele": "G",
          "start": 27425299
        }
      ],
      "hgvs": [
        "NC_000010.10:g.27425300G>C",
        "CM000672.1:g.27425300G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "C",
          "end": 27465306,
          "referenceAllele": "G",
          "start": 27465305
        }
      ],
      "hgvs": [
        "NC_000010.9:g.27465306G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 23908,
          "referenceAllele": "C",
          "start": 23907
        }
      ],
      "hgvs": [
        "NG_047122.1:g.23908C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616643"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 619,
          "referenceAllele": "C",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012843",
      "geneNCBI_id": 10730,
      "geneSymbol": "YME1L1",
      "hgvs": [
        "ENST00000376016.8:c.445C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365184.3:p.Arg149Gly",
        "hgvsWellDefined": "ENSP00000365184.3:p.Arg149Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751704",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376016.8:c.445C>G"
          },
          "RefSeq": {
            "hgvs": "NM_014263.4:c.445C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365184.3:p.Arg149Gly"
          },
          "RefSeq": {
            "hgvs": "NP_055078.1:p.Arg149Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 765,
          "referenceAllele": "C",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012843",
      "geneNCBI_id": 10730,
      "geneSymbol": "YME1L1",
      "hgvs": [
        "ENST00000326799.7:c.616C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000318480.3:p.Arg206Gly",
        "hgvsWellDefined": "ENSP00000318480.3:p.Arg206Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 762,
          "referenceAllele": "C",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012843",
      "geneNCBI_id": 10730,
      "geneSymbol": "YME1L1",
      "hgvs": [
        "ENST00000375972.7:c.616C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365139.4:p.Arg206Gly",
        "hgvsWellDefined": "ENSP00000365139.4:p.Arg206Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270958"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 627,
          "referenceAllele": "C",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012843",
      "geneNCBI_id": 10730,
      "geneSymbol": "YME1L1",
      "hgvs": [
        "ENST00000376016.7:c.445C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365184.3:p.Arg149Gly",
        "hgvsWellDefined": "ENSP00000365184.3:p.Arg149Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270977"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 661,
          "referenceAllele": "C",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012843",
      "geneNCBI_id": 10730,
      "geneSymbol": "YME1L1",
      "hgvs": [
        "ENST00000396296.7:c.421C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379590.3:p.Arg141Gly",
        "hgvsWellDefined": "ENSP00000379590.3:p.Arg141Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277201"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 362,
          "referenceAllele": "C",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012843",
      "geneNCBI_id": 10730,
      "geneSymbol": "YME1L1",
      "hgvs": [
        "ENST00000427324.5:c.346C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398713.1:p.Arg116Gly",
        "hgvsWellDefined": "ENSP00000398713.1:p.Arg116Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289639"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 350,
          "endIntronDirection": "-",
          "endIntronOffset": 1389,
          "referenceAllele": "C",
          "start": 350,
          "startIntronDirection": "-",
          "startIntronOffset": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012843",
      "geneNCBI_id": 10730,
      "geneSymbol": "YME1L1",
      "hgvs": [
        "ENST00000491542.6:c.169-1390C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473557.1:n.169-1390C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 556,
          "referenceAllele": "C",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012843",
      "geneNCBI_id": 10730,
      "geneSymbol": "YME1L1",
      "hgvs": [
        "ENST00000613434.4:c.346C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481724.1:p.Arg116Gly",
        "hgvsWellDefined": "ENSP00000481724.1:p.Arg116Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401739"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 556,
          "referenceAllele": "C",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012843",
      "geneNCBI_id": 10730,
      "geneSymbol": "YME1L1",
      "hgvs": [
        "NM_001253866.1:c.346C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001240795.1:p.Arg116Gly",
        "hgvsWellDefined": "NP_001240795.1:p.Arg116Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018985"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077079029",
      "coordinates": [
        {
          "allele": "G",
          "end": 655,
          "referenceAllele": "C",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012843",
      "geneNCBI_id": 10730,
      "geneSymbol": "YME1L1",
      "hgvs": [
        "NM_014263.3:c.445C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055078.1:p.Arg149Gly",
        "hgvsWellDefined": "NP_055078.1:p.Arg149Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033028"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 826,
          "referenceAllele": "C",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012843",
      "geneNCBI_id": 10730,
      "geneSymbol": "YME1L1",
      "hgvs": [
        "NM_139312.2:c.616C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_647473.1:p.Arg206Gly",
        "hgvsWellDefined": "NP_647473.1:p.Arg206Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041057"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1585,
          "referenceAllele": "C",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012843",
      "geneNCBI_id": 10730,
      "geneSymbol": "YME1L1",
      "hgvs": [
        "XM_011519300.1:c.517C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517602.1:p.Arg173Gly",
        "hgvsWellDefined": "XP_011517602.1:p.Arg173Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086473"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1358,
          "referenceAllele": "C",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012843",
      "geneNCBI_id": 10730,
      "geneSymbol": "YME1L1",
      "hgvs": [
        "XM_011519300.3:c.517C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517602.1:p.Arg173Gly",
        "hgvsWellDefined": "XP_011517602.1:p.Arg173Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545303"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077079029",
      "coordinates": [
        {
          "allele": "G",
          "end": 619,
          "referenceAllele": "C",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012843",
      "geneNCBI_id": 10730,
      "geneSymbol": "YME1L1",
      "hgvs": [
        "NM_014263.4:c.445C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055078.1:p.Arg149Gly",
        "hgvsWellDefined": "NP_055078.1:p.Arg149Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697216",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376016.8:c.445C>G"
          },
          "RefSeq": {
            "hgvs": "NM_014263.4:c.445C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365184.3:p.Arg149Gly"
          },
          "RefSeq": {
            "hgvs": "NP_055078.1:p.Arg149Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012843",
      "geneNCBI_id": 10730,
      "geneSymbol": "YME1L1",
      "hgvs": [
        "NM_139312.3:c.616C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_647473.1:p.Arg206Gly",
        "hgvsWellDefined": "NP_647473.1:p.Arg206Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699871"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 520,
          "referenceAllele": "C",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012843",
      "geneNCBI_id": 10730,
      "geneSymbol": "YME1L1",
      "hgvs": [
        "NM_001253866.2:c.346C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001240795.1:p.Arg116Gly",
        "hgvsWellDefined": "NP_001240795.1:p.Arg116Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714660"
    }
  ],
  "type": "nucleotide"
}