{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA410781376",
  "communityStandardTitle": [
    "NM_006767.4(LZTR1):c.898G>A (p.Gly300Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1415822[alleleid]",
        "alleleId": 1415822,
        "preferredName": "NM_006767.4(LZTR1):c.898G>A (p.Gly300Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1394933",
        "RCV": [
          "RCV001927508"
        ],
        "variationId": 1394933
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.21346023G>A?assembly=hg19",
        "id": "chr22:g.21346023G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.20991734G>A?assembly=hg38",
        "id": "chr22:g.20991734G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1569156022",
        "rs": 1569156022
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-20991734-G-A?dataset=gnomad_r3",
        "id": "22-20991734-G-A",
        "variant": "22:20991734 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-20991734-G-A?dataset=gnomad_r4",
        "id": "22-20991734-G-A",
        "variant": "22:20991734 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 20991734,
          "referenceAllele": "G",
          "start": 20991733
        }
      ],
      "hgvs": [
        "NC_000022.11:g.20991734G>A",
        "CM000684.2:g.20991734G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 21346023,
          "referenceAllele": "G",
          "start": 21346022
        }
      ],
      "hgvs": [
        "NC_000022.10:g.21346023G>A",
        "CM000684.1:g.21346023G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 19676023,
          "referenceAllele": "G",
          "start": 19676022
        }
      ],
      "hgvs": [
        "NC_000022.9:g.19676023G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14466,
          "referenceAllele": "G",
          "start": 14465
        }
      ],
      "hgvs": [
        "NG_034193.1:g.14466G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005795"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 980,
          "referenceAllele": "G",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000700578.1:c.898G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515073.1:p.Gly300Arg",
        "hgvsWellDefined": "ENSP00000515073.1:p.Gly300Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911326"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 243,
          "referenceAllele": "G",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000495142.6:n.243G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757793"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 729,
          "referenceAllele": "G",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000642151.1:c.729G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766587"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 920,
          "referenceAllele": "G",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000643578.1:n.920G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767353"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 973,
          "referenceAllele": "G",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000646124.2:c.898G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496779.1:p.Gly300Arg",
        "hgvsWellDefined": "ENSP00000496779.1:p.Gly300Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768715",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.898G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.898G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:p.Gly300Arg"
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:p.Gly300Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 477,
          "referenceAllele": "G",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000646506.1:n.477G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1257,
          "referenceAllele": "G",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000215739.12:c.898G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000215739.8:p.Gly300Arg",
        "hgvsWellDefined": "ENSP00000215739.8:p.Gly300Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1044,
          "referenceAllele": "G",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000479606.5:n.1044G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 725,
          "referenceAllele": "G",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "ENST00000497716.5:n.725G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333887"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573253646",
      "coordinates": [
        {
          "allele": "A",
          "end": 1001,
          "referenceAllele": "G",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.3:c.898G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:p.Gly300Arg",
        "hgvsWellDefined": "NP_006758.2:p.Gly300Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031753"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573253646",
      "coordinates": [
        {
          "allele": "A",
          "end": 973,
          "referenceAllele": "G",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006742",
      "geneNCBI_id": 8216,
      "geneSymbol": "LZTR1",
      "hgvs": [
        "NM_006767.4:c.898G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006758.2:p.Gly300Arg",
        "hgvsWellDefined": "NP_006758.2:p.Gly300Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646124.2:c.898G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006767.4:c.898G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496779.1:p.Gly300Arg"
          },
          "RefSeq": {
            "hgvs": "NP_006758.2:p.Gly300Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}