{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6545737",
  "communityStandardTitle": [
    "NM_003482.4(KMT2D):c.14470G>A (p.Ala4824Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1472311[alleleid]",
        "alleleId": 1472311,
        "preferredName": "NM_003482.4(KMT2D):c.14470G>A (p.Ala4824Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1513256",
        "RCV": [
          "RCV002026083"
        ],
        "variationId": 1513256
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-49421837-C-T",
        "id": "12-49421837-C-T",
        "variant": "12:49421837 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49421837C>T?assembly=hg19",
        "id": "chr12:g.49421837C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49028054C>T?assembly=hg38",
        "id": "chr12:g.49028054C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/759709365",
        "rs": 759709365
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49421837-C-T?dataset=gnomad_r2_1",
        "id": "12-49421837-C-T",
        "variant": "12:49421837 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49028054-C-T?dataset=gnomad_r3",
        "id": "12-49028054-C-T",
        "variant": "12:49028054 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-49028054-C-T?dataset=gnomad_r4",
        "id": "12-49028054-C-T",
        "variant": "12:49028054 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 49028054,
          "referenceAllele": "C",
          "start": 49028053
        }
      ],
      "hgvs": [
        "NC_000012.12:g.49028054C>T",
        "CM000674.2:g.49028054C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 49421837,
          "referenceAllele": "C",
          "start": 49421836
        }
      ],
      "hgvs": [
        "NC_000012.11:g.49421837C>T",
        "CM000674.1:g.49421837C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "T",
          "end": 47708104,
          "referenceAllele": "C",
          "start": 47708103
        }
      ],
      "hgvs": [
        "NC_000012.10:g.47708104C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 32271,
          "referenceAllele": "G",
          "start": 32270
        }
      ],
      "hgvs": [
        "NG_027827.1:g.32271G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003992"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15689,
          "referenceAllele": "G",
          "start": 15688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000683543.2:c.14470G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506726.1:p.Ala4824Thr",
        "hgvsWellDefined": "ENSP00000506726.1:p.Ala4824Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828517"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14479,
          "referenceAllele": "G",
          "start": 14478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000685166.1:c.14479G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509386.1:p.Ala4827Thr",
        "hgvsWellDefined": "ENSP00000509386.1:p.Ala4827Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829915"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 431,
          "referenceAllele": "G",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000687241.1:c.431G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509842.1:n.431G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830995"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 88,
          "referenceAllele": "G",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000688411.1:c.88G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510146.1:p.Ala30Thr",
        "hgvsWellDefined": "ENSP00000510146.1:p.Ala30Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 88,
          "referenceAllele": "G",
          "start": 87
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000691463.1:c.88G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510624.1:p.Ala30Thr",
        "hgvsWellDefined": "ENSP00000510624.1:p.Ala30Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14467,
          "referenceAllele": "G",
          "start": 14466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000692637.1:c.14467G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509666.1:p.Ala4823Thr",
        "hgvsWellDefined": "ENSP00000509666.1:p.Ala4823Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833805"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15689,
          "referenceAllele": "G",
          "start": 15688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.12:c.14470G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Ala4824Thr",
        "hgvsWellDefined": "ENSP00000301067.7:p.Ala4824Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744808",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.14470G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.14470G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Ala4824Thr"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Ala4824Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14470,
          "referenceAllele": "G",
          "start": 14469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "ENST00000301067.11:c.14470G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301067.7:p.Ala4824Thr",
        "hgvsWellDefined": "ENSP00000301067.7:p.Ala4824Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254955"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573231837",
      "coordinates": [
        {
          "allele": "A",
          "end": 14470,
          "referenceAllele": "G",
          "start": 14469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.3:c.14470G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Ala4824Thr",
        "hgvsWellDefined": "NP_003473.3:p.Ala4824Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15764,
          "referenceAllele": "G",
          "start": 15763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.3:c.14470G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Ala4824Thr",
        "hgvsWellDefined": "XP_005269219.1:p.Ala4824Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15773,
          "referenceAllele": "G",
          "start": 15772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.2:c.14479G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Ala4827Thr",
        "hgvsWellDefined": "XP_006719677.1:p.Ala4827Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073234"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15760,
          "referenceAllele": "G",
          "start": 15759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.2:c.14467G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Ala4823Thr",
        "hgvsWellDefined": "XP_006719679.1:p.Ala4823Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073235"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15780,
          "referenceAllele": "G",
          "start": 15779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.1:c.14479G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Ala4827Thr",
        "hgvsWellDefined": "XP_011537072.1:p.Ala4827Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15777,
          "referenceAllele": "G",
          "start": 15776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.1:c.14476G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Ala4826Thr",
        "hgvsWellDefined": "XP_011537073.1:p.Ala4826Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15770,
          "referenceAllele": "G",
          "start": 15769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.1:c.14470G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Ala4824Thr",
        "hgvsWellDefined": "XP_011537074.1:p.Ala4824Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105726"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15767,
          "referenceAllele": "G",
          "start": 15766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.1:c.14467G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Ala4823Thr",
        "hgvsWellDefined": "XP_011537075.1:p.Ala4823Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105727"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15760,
          "referenceAllele": "G",
          "start": 15759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.1:c.14458G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Ala4820Thr",
        "hgvsWellDefined": "XP_011537076.1:p.Ala4820Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15717,
          "referenceAllele": "G",
          "start": 15716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538775.1:c.14413G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537077.1:p.Ala4805Thr",
        "hgvsWellDefined": "XP_011537077.1:p.Ala4805Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15687,
          "referenceAllele": "G",
          "start": 15686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.1:c.14386G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Ala4796Thr",
        "hgvsWellDefined": "XP_011537078.1:p.Ala4796Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16799,
          "referenceAllele": "G",
          "start": 16798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_944740.1:n.16799G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15749,
          "referenceAllele": "G",
          "start": 15748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.4:c.14470G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Ala4824Thr",
        "hgvsWellDefined": "XP_005269219.1:p.Ala4824Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15759,
          "referenceAllele": "G",
          "start": 15758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.4:c.14479G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Ala4827Thr",
        "hgvsWellDefined": "XP_006719677.1:p.Ala4827Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15746,
          "referenceAllele": "G",
          "start": 15745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.3:c.14467G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Ala4823Thr",
        "hgvsWellDefined": "XP_006719679.1:p.Ala4823Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15761,
          "referenceAllele": "G",
          "start": 15760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.2:c.14479G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Ala4827Thr",
        "hgvsWellDefined": "XP_011537072.1:p.Ala4827Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15758,
          "referenceAllele": "G",
          "start": 15757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.2:c.14476G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Ala4826Thr",
        "hgvsWellDefined": "XP_011537073.1:p.Ala4826Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15752,
          "referenceAllele": "G",
          "start": 15751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.2:c.14470G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Ala4824Thr",
        "hgvsWellDefined": "XP_011537074.1:p.Ala4824Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553414"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15749,
          "referenceAllele": "G",
          "start": 15748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.2:c.14467G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Ala4823Thr",
        "hgvsWellDefined": "XP_011537075.1:p.Ala4823Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15741,
          "referenceAllele": "G",
          "start": 15740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.2:c.14458G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Ala4820Thr",
        "hgvsWellDefined": "XP_011537076.1:p.Ala4820Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553416"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15668,
          "referenceAllele": "G",
          "start": 15667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.2:c.14386G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Ala4796Thr",
        "hgvsWellDefined": "XP_011537078.1:p.Ala4796Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553417"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15788,
          "referenceAllele": "G",
          "start": 15787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_001748874.1:n.15788G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596813"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573231837",
      "coordinates": [
        {
          "allele": "A",
          "end": 15689,
          "referenceAllele": "G",
          "start": 15688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.4:c.14470G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Ala4824Thr",
        "hgvsWellDefined": "NP_003473.3:p.Ala4824Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.14470G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.14470G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Ala4824Thr"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Ala4824Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}