{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1729182153", "communityStandardTitle": [ "NM_000777.5(CYP3A5):c.299C= (p.Ser100=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/41279857", "rs": 41279857 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "G", "end": 99672599, "referenceAllele": "G", "start": 99672598 } ], "hgvs": [ "NC_000007.14:g.99672599G=", "CM000669.2:g.99672599G=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "G", "end": 99270222, "referenceAllele": "G", "start": 99270221 } ], "hgvs": [ "NC_000007.13:g.99270222G=", "CM000669.1:g.99270222G=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "G", "end": 99108158, "referenceAllele": "G", "start": 99108157 } ], "hgvs": [ "NC_000007.12:g.99108158G=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "C", "end": 12400, "referenceAllele": "C", "start": 12399 } ], "hgvs": [ "NG_007938.1:g.12400C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS000705" }, { "coordinates": [ { "allele": "C", "end": 12400, "referenceAllele": "C", "start": 12399 } ], "hgvs": [ "NG_007938.2:g.12400C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS733315" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 399, "referenceAllele": "C", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "ENST00000439761.3:c.299C=" ], "proteinEffect": { "hgvs": "ENSP00000401269.1:p.Ser100=" }, "referenceSequence": "http://reg.genome.network/refseq/RS755766" }, { "coordinates": [ { "allele": "C", "end": 399, "referenceAllele": "C", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "ENST00000646887.1:c.299C=" ], "proteinEffect": { "hgvs": "ENSP00000496704.1:p.Ser100=" }, "referenceSequence": "http://reg.genome.network/refseq/RS769117" }, { "coordinates": [ { "allele": "C", "end": 399, "referenceAllele": "C", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "ENST00000222982.8:c.299C=" ], "proteinEffect": { "hgvs": "ENSP00000222982.4:p.Ser100=" }, "referenceSequence": "http://reg.genome.network/refseq/RS248412", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000222982.8:c.299C=" }, "RefSeq": { "hgvs": "NM_000777.5:c.299C=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000222982.4:p.Ser100=" }, "RefSeq": { "hgvs": "NP_000768.1:p.Ser100=" } } } }, { "coordinates": [ { "allele": "C", "end": 920, "referenceAllele": "C", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "ENST00000339843.6:c.*698C=" ], "proteinEffect": { "hgvs": "ENSP00000343074.2:n.*698C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS260959" }, { "coordinates": [ { "allele": "C", "end": 399, "referenceAllele": "C", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "ENST00000439761.1:c.299C=" ], "proteinEffect": { "hgvs": "ENSP00000401269.1:p.Ser100=" }, "referenceSequence": "http://reg.genome.network/refseq/RS295585" }, { "coordinates": [ { "allele": "C", "end": 891, "referenceAllele": "C", "start": 890 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "ENST00000461920.5:n.891C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS306320" }, { "coordinates": [ { "allele": "C", "end": 501, "referenceAllele": "C", "start": 500 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "ENST00000463364.5:n.501C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS307415" }, { "coordinates": [ { "allele": "C", "end": 635, "referenceAllele": "C", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "ENST00000463907.5:n.635C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS307844" }, { "coordinates": [ { "allele": "C", "end": 531, "referenceAllele": "C", "start": 530 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "ENST00000466061.5:n.531C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS309521" }, { "coordinates": [ { "allele": "C", "end": 546, "referenceAllele": "C", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "ENST00000469622.5:n.546C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS312264" }, { "coordinates": [ { "allele": "C", "end": 747, "referenceAllele": "C", "start": 746 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "ENST00000469887.5:n.747C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS312458" }, { "coordinates": [ { "allele": "C", "end": 356, "referenceAllele": "C", "start": 355 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "ENST00000480723.5:n.356C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS320803" }, { "coordinates": [ { "allele": "C", "end": 899, "referenceAllele": "C", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "ENST00000481825.5:n.899C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS321663" }, { "@id": "http://reg.genome.network/allele/PA3073450095", "coordinates": [ { "allele": "C", "end": 429, "referenceAllele": "C", "start": 428 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "NM_000777.4:c.299C=" ], "proteinEffect": { "hgvs": "NP_000768.1:p.Ser100=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006806" }, { "coordinates": [ { "allele": "C", "end": 429, "referenceAllele": "C", "start": 428 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "NM_001190484.2:c.299C=" ], "proteinEffect": { "hgvs": "NP_001177413.1:p.Ser100=" }, "referenceSequence": "http://reg.genome.network/refseq/RS016199" }, { "coordinates": [ { "allele": "C", "end": 929, "referenceAllele": "C", "start": 928 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "NM_001291829.1:c.-41C=" ], "proteinEffect": { "hgvs": "NP_001278758.1:n.-41C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS024329" }, { "coordinates": [ { "allele": "C", "end": 689, "referenceAllele": "C", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "NM_001291830.1:c.269C=" ], "proteinEffect": { "hgvs": "NP_001278759.1:p.Ser90=" }, "referenceSequence": "http://reg.genome.network/refseq/RS024330" }, { "coordinates": [ { "allele": "C", "end": 948, "referenceAllele": "C", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "NR_033807.2:n.948C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS049142" }, { "coordinates": [ { "allele": "C", "end": 396, "referenceAllele": "C", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "XM_006715859.2:c.299C=" ], "proteinEffect": { "hgvs": "XP_006715922.1:p.Ser100=" }, "referenceSequence": "http://reg.genome.network/refseq/RS071389" }, { "coordinates": [ { "allele": "C", "end": 546, "referenceAllele": "C", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "XM_011515843.1:c.-41C=" ], "proteinEffect": { "hgvs": "XP_011514145.1:n.-41C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS083051" }, { "coordinates": [ { "allele": "C", "end": 413, "referenceAllele": "C", "start": 412 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "XM_011515844.1:c.-149C=" ], "proteinEffect": { "hgvs": "XP_011514146.1:n.-149C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS083052" }, { "coordinates": [ { "allele": "C", "end": 545, "referenceAllele": "C", "start": 544 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "XM_011515845.1:c.-251C=" ], "proteinEffect": { "hgvs": "XP_011514147.1:n.-251C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS083053" }, { "coordinates": [ { "allele": "C", "end": 356, "referenceAllele": "C", "start": 355 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "XM_011515846.1:c.-251C=" ], "proteinEffect": { "hgvs": "XP_011514148.1:n.-251C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS083054" }, { "coordinates": [ { "allele": "C", "end": 545, "referenceAllele": "C", "start": 544 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "XM_011515847.1:c.-359C=" ], "proteinEffect": { "hgvs": "XP_011514149.1:n.-359C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS083055" }, { "coordinates": [ { "allele": "C", "end": 424, "referenceAllele": "C", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "XR_927383.1:n.424C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS123839" }, { "coordinates": [ { "allele": "G", "end": 1466, "endIntronDirection": "+", "endIntronOffset": 48419, "referenceAllele": "G", "start": 1466, "startIntronDirection": "+", "startIntronOffset": 48418 } ], "gene": "http://reg.genome.network/gene/GN021961", "geneNCBI_id": 221785, "geneSymbol": "ZSCAN25", "hgvs": [ "XR_927402.1:n.1466+48419G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS123841" }, { "@id": "http://reg.genome.network/allele/PA3073450095", "coordinates": [ { "allele": "C", "end": 399, "referenceAllele": "C", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "NM_000777.5:c.299C=" ], "proteinEffect": { "hgvs": "NP_000768.1:p.Ser100=" }, "referenceSequence": "http://reg.genome.network/refseq/RS510850", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000222982.8:c.299C=" }, "RefSeq": { "hgvs": "NM_000777.5:c.299C=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000222982.4:p.Ser100=" }, "RefSeq": { "hgvs": "NP_000768.1:p.Ser100=" } } } }, { "coordinates": [ { "allele": "G", "end": 1465, "endIntronDirection": "+", "endIntronOffset": 48419, "referenceAllele": "G", "start": 1465, "startIntronDirection": "+", "startIntronOffset": 48418 } ], "gene": "http://reg.genome.network/gene/GN021961", "geneNCBI_id": 221785, "geneSymbol": "ZSCAN25", "hgvs": [ "XR_927402.2:n.1465+48419G=" ], "referenceSequence": "http://reg.genome.network/refseq/RS608541" }, { "coordinates": [ { "allele": "C", "end": 399, "referenceAllele": "C", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "NM_001190484.3:c.299C=" ], "proteinEffect": { "hgvs": "NP_001177413.1:p.Ser100=" }, "referenceSequence": "http://reg.genome.network/refseq/RS679122" }, { "coordinates": [ { "allele": "C", "end": 899, "referenceAllele": "C", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "NM_001291829.2:c.-41C=" ], "proteinEffect": { "hgvs": "NP_001278758.1:n.-41C=" }, "referenceSequence": "http://reg.genome.network/refseq/RS682873" }, { "coordinates": [ { "allele": "C", "end": 659, "referenceAllele": "C", "start": 658 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "NM_001291830.2:c.269C=" ], "proteinEffect": { "hgvs": "NP_001278759.1:p.Ser90=" }, "referenceSequence": "http://reg.genome.network/refseq/RS682874" }, { "coordinates": [ { "allele": "C", "end": 918, "referenceAllele": "C", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN002638", "geneNCBI_id": 1577, "geneSymbol": "CYP3A5", "hgvs": [ "NR_033807.3:n.918C=" ], "referenceSequence": "http://reg.genome.network/refseq/RS702171" } ], "type": "nucleotide" }