{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA235796", "communityStandardTitle": [ "NM_006721.4(ADK):c.741T>A (p.Phe247Leu)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=188809[alleleid]", "alleleId": 188809, "preferredName": "NM_006721.4(ADK):c.741T>A (p.Phe247Leu)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/191003", "RCV": [ "RCV000171178", "RCV001332841" ], "variationId": 191003 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.76349054T>A?assembly=hg19", "id": "chr10:g.76349054T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.74589296T>A?assembly=hg38", "id": "chr10:g.74589296T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/786205458", "rs": 786205458 } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 74589296, "referenceAllele": "T", "start": 74589295 } ], "hgvs": [ "NC_000010.11:g.74589296T>A", "CM000672.2:g.74589296T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 76349054, "referenceAllele": "T", "start": 76349053 } ], "hgvs": [ "NC_000010.10:g.76349054T>A", "CM000672.1:g.76349054T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 76019060, "referenceAllele": "T", "start": 76019059 } ], "hgvs": [ "NC_000010.9:g.76019060T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "A", "end": 443112, "referenceAllele": "T", "start": 443111 } ], "hgvs": [ "NG_030484.1:g.443112T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS004955" }, { "coordinates": [ { "allele": "A", "end": 443112, "referenceAllele": "T", "start": 443111 } ], "hgvs": [ "NG_030484.2:g.443112T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673845" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 796, "referenceAllele": "T", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "ENST00000286621.7:c.741T>A" ], "proteinEffect": { "hgvs": "ENSP00000286621.3:p.Phe247Leu", "hgvsWellDefined": "ENSP00000286621.3:p.Phe247Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS743858" }, { "coordinates": [ { "allele": "A", "end": 800, "referenceAllele": "T", "start": 799 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "ENST00000372734.5:c.690T>A" ], "proteinEffect": { "hgvs": "ENSP00000361819.3:p.Phe230Leu", "hgvsWellDefined": "ENSP00000361819.3:p.Phe230Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS751073" }, { "coordinates": [ { "allele": "A", "end": 799, "referenceAllele": "T", "start": 798 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "ENST00000539909.6:c.741T>A" ], "proteinEffect": { "hgvs": "ENSP00000443965.2:p.Phe247Leu", "hgvsWellDefined": "ENSP00000443965.2:p.Phe247Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS759612", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000539909.6:c.741T>A" }, "RefSeq": { "hgvs": "NM_006721.4:c.741T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000443965.2:p.Phe247Leu" }, "RefSeq": { "hgvs": "NP_006712.2:p.Phe247Leu" } } } }, { "coordinates": [ { "allele": "A", "end": 793, "referenceAllele": "T", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "ENST00000541550.6:c.690T>A" ], "proteinEffect": { "hgvs": "ENSP00000438321.2:p.Phe230Leu", "hgvsWellDefined": "ENSP00000438321.2:p.Phe230Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS759667" }, { "coordinates": [ { "allele": "A", "end": 1207, "referenceAllele": "T", "start": 1206 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "ENST00000672394.1:c.465T>A" ], "proteinEffect": { "hgvs": "ENSP00000500390.1:p.Phe155Leu", "hgvsWellDefined": "ENSP00000500390.1:p.Phe155Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS773369" }, { "coordinates": [ { "allele": "A", "end": 647, "referenceAllele": "T", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "ENST00000672429.1:c.570T>A" ], "proteinEffect": { "hgvs": "ENSP00000500292.1:p.Phe190Leu", "hgvsWellDefined": "ENSP00000500292.1:p.Phe190Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS773383" }, { "coordinates": [ { "allele": "A", "end": 481, "referenceAllele": "T", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "ENST00000672604.1:c.481T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773430" }, { "coordinates": [ { "allele": "A", "end": 1075, "referenceAllele": "T", "start": 1074 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "ENST00000672920.1:c.*486T>A" ], "proteinEffect": { "hgvs": "ENSP00000500141.1:n.*486T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773542" }, { "coordinates": [ { "allele": "A", "end": 746, "referenceAllele": "T", "start": 745 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "ENST00000673027.1:c.636T>A" ], "proteinEffect": { "hgvs": "ENSP00000500201.1:p.Phe212Leu", "hgvsWellDefined": "ENSP00000500201.1:p.Phe212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS773574" }, { "coordinates": [ { "allele": "A", "end": 1346, "referenceAllele": "T", "start": 1345 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "ENST00000673310.1:c.*334T>A" ], "proteinEffect": { "hgvs": "ENSP00000500097.1:n.*334T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773645" }, { "coordinates": [ { "allele": "A", "end": 780, "referenceAllele": "T", "start": 779 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "ENST00000673352.1:c.741T>A" ], "proteinEffect": { "hgvs": "ENSP00000500056.1:p.Phe247Leu", "hgvsWellDefined": "ENSP00000500056.1:p.Phe247Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS773655" }, { "coordinates": [ { "allele": "A", "end": 791, "referenceAllele": "T", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "ENST00000286621.6:c.741T>A" ], "proteinEffect": { "hgvs": "ENSP00000286621.2:p.Phe247Leu", "hgvsWellDefined": "ENSP00000286621.2:p.Phe247Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS253379" }, { "coordinates": [ { "allele": "A", "end": 877, "referenceAllele": "T", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "ENST00000372734.3:c.690T>A" ], "proteinEffect": { "hgvs": "ENSP00000361819.3:p.Phe230Leu", "hgvsWellDefined": "ENSP00000361819.3:p.Phe230Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS269279" }, { "coordinates": [ { "allele": "A", "end": 664, "referenceAllele": "T", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "ENST00000539909.5:c.570T>A" ], "proteinEffect": { "hgvs": "ENSP00000443965.1:p.Phe190Leu", "hgvsWellDefined": "ENSP00000443965.1:p.Phe190Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS362121" }, { "coordinates": [ { "allele": "A", "end": 1020, "referenceAllele": "T", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "ENST00000541550.5:c.636T>A" ], "proteinEffect": { "hgvs": "ENSP00000438321.1:p.Phe212Leu", "hgvsWellDefined": "ENSP00000438321.1:p.Phe212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS362983" }, { "@id": "http://reg.genome.network/allele/PA2825544491", "coordinates": [ { "allele": "A", "end": 1074, "referenceAllele": "T", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "NM_001123.3:c.690T>A" ], "proteinEffect": { "hgvs": "NP_001114.2:p.Phe230Leu", "hgvsWellDefined": "NP_001114.2:p.Phe230Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS011435" }, { "@id": "http://reg.genome.network/allele/PA2826260937", "coordinates": [ { "allele": "A", "end": 1020, "referenceAllele": "T", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "NM_001202449.1:c.636T>A" ], "proteinEffect": { "hgvs": "NP_001189378.1:p.Phe212Leu", "hgvsWellDefined": "NP_001189378.1:p.Phe212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS017406" }, { "@id": "http://reg.genome.network/allele/PA2826260994", "coordinates": [ { "allele": "A", "end": 664, "referenceAllele": "T", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "NM_001202450.1:c.570T>A" ], "proteinEffect": { "hgvs": "NP_001189379.1:p.Phe190Leu", "hgvsWellDefined": "NP_001189379.1:p.Phe190Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS017407" }, { "@id": "http://reg.genome.network/allele/PA235797", "coordinates": [ { "allele": "A", "end": 835, "referenceAllele": "T", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "NM_006721.3:c.741T>A" ], "proteinEffect": { "hgvs": "NP_006712.2:p.Phe247Leu", "hgvsWellDefined": "NP_006712.2:p.Phe247Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS031710" }, { "coordinates": [ { "allele": "A", "end": 988, "referenceAllele": "T", "start": 987 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "XM_011539297.1:c.657T>A" ], "proteinEffect": { "hgvs": "XP_011537599.1:p.Phe219Leu", "hgvsWellDefined": "XP_011537599.1:p.Phe219Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS106247" }, { "coordinates": [ { "allele": "A", "end": 835, "referenceAllele": "T", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "XM_017015698.1:c.741T>A" ], "proteinEffect": { "hgvs": "XP_016871187.1:p.Phe247Leu", "hgvsWellDefined": "XP_016871187.1:p.Phe247Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS568338" }, { "coordinates": [ { "allele": "A", "end": 561, "referenceAllele": "T", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "XM_017015699.1:c.546T>A" ], "proteinEffect": { "hgvs": "XP_016871188.1:p.Phe182Leu", "hgvsWellDefined": "XP_016871188.1:p.Phe182Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS568339" }, { "coordinates": [ { "allele": "A", "end": 835, "referenceAllele": "T", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "XM_017015700.1:c.741T>A" ], "proteinEffect": { "hgvs": "XP_016871189.1:p.Phe247Leu", "hgvsWellDefined": "XP_016871189.1:p.Phe247Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS568340" }, { "coordinates": [ { "allele": "A", "end": 838, "referenceAllele": "T", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "XM_017015701.1:c.519T>A" ], "proteinEffect": { "hgvs": "XP_016871190.1:p.Phe173Leu", "hgvsWellDefined": "XP_016871190.1:p.Phe173Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS568341" }, { "coordinates": [ { "allele": "A", "end": 1009, "referenceAllele": "T", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "XM_017015702.1:c.690T>A" ], "proteinEffect": { "hgvs": "XP_016871191.1:p.Phe230Leu", "hgvsWellDefined": "XP_016871191.1:p.Phe230Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS568342" }, { "coordinates": [ { "allele": "A", "end": 493, "referenceAllele": "T", "start": 492 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "XM_017015703.2:c.465T>A" ], "proteinEffect": { "hgvs": "XP_016871192.1:p.Phe155Leu", "hgvsWellDefined": "XP_016871192.1:p.Phe155Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS568343" }, { "coordinates": [ { "allele": "A", "end": 664, "referenceAllele": "T", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "XM_017015705.1:c.570T>A" ], "proteinEffect": { "hgvs": "XP_016871194.1:p.Phe190Leu", "hgvsWellDefined": "XP_016871194.1:p.Phe190Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS568345" }, { "@id": "http://reg.genome.network/allele/PA2828312687", "coordinates": [ { "allele": "A", "end": 799, "referenceAllele": "T", "start": 798 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "NM_001369123.1:c.741T>A" ], "proteinEffect": { "hgvs": "NP_001356052.1:p.Phe247Leu", "hgvsWellDefined": "NP_001356052.1:p.Phe247Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS691560" }, { "@id": "http://reg.genome.network/allele/PA2828312723", "coordinates": [ { "allele": "A", "end": 629, "referenceAllele": "T", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "NM_001369124.1:c.519T>A" ], "proteinEffect": { "hgvs": "NP_001356053.1:p.Phe173Leu", "hgvsWellDefined": "NP_001356053.1:p.Phe173Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS691561" }, { "@id": "http://reg.genome.network/allele/PA235797", "coordinates": [ { "allele": "A", "end": 799, "referenceAllele": "T", "start": 798 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "NM_006721.4:c.741T>A" ], "proteinEffect": { "hgvs": "NP_006712.2:p.Phe247Leu", "hgvsWellDefined": "NP_006712.2:p.Phe247Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS696799", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000539909.6:c.741T>A" }, "RefSeq": { "hgvs": "NM_006721.4:c.741T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000443965.2:p.Phe247Leu" }, "RefSeq": { "hgvs": "NP_006712.2:p.Phe247Leu" } } } }, { "@id": "http://reg.genome.network/allele/PA2825544491", "coordinates": [ { "allele": "A", "end": 800, "referenceAllele": "T", "start": 799 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "NM_001123.4:c.690T>A" ], "proteinEffect": { "hgvs": "NP_001114.2:p.Phe230Leu", "hgvsWellDefined": "NP_001114.2:p.Phe230Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS712154" }, { "@id": "http://reg.genome.network/allele/PA2826260937", "coordinates": [ { "allele": "A", "end": 746, "referenceAllele": "T", "start": 745 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "NM_001202449.2:c.636T>A" ], "proteinEffect": { "hgvs": "NP_001189378.1:p.Phe212Leu", "hgvsWellDefined": "NP_001189378.1:p.Phe212Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS714089" }, { "@id": "http://reg.genome.network/allele/PA2826260994", "coordinates": [ { "allele": "A", "end": 628, "referenceAllele": "T", "start": 627 } ], "gene": "http://reg.genome.network/gene/GN000257", "geneNCBI_id": 132, "geneSymbol": "ADK", "hgvs": [ "NM_001202450.2:c.570T>A" ], "proteinEffect": { "hgvs": "NP_001189379.1:p.Phe190Leu", "hgvsWellDefined": "NP_001189379.1:p.Phe190Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS714090" } ], "type": "nucleotide" }