{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1945002640", "communityStandardTitle": [ "NM_001375380.1(EBF3):c.422A= (p.Tyr141=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519519", "rs": 1057519519 } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 129958997, "referenceAllele": "T", "start": 129958996 } ], "hgvs": [ "NC_000010.11:g.129958997T=", "CM000672.2:g.129958997T=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 131757261, "referenceAllele": "T", "start": 131757260 } ], "hgvs": [ "NC_000010.10:g.131757261T=", "CM000672.1:g.131757261T=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 131647251, "referenceAllele": "T", "start": 131647250 } ], "hgvs": [ "NC_000010.9:g.131647251T=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "A", "end": 9831, "referenceAllele": "A", "start": 9830 } ], "hgvs": [ "NG_030038.1:g.9831A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS004863" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 372, "referenceAllele": "A", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "ENST00000682649.1:n.372A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS827638" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "A", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "ENST00000355311.10:c.422A=" ], "proteinEffect": { "hgvs": "ENSP00000347463.4:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS748654" }, { "coordinates": [ { "allele": "A", "end": 949, "referenceAllele": "A", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "ENST00000368648.8:c.422A=" ], "proteinEffect": { "hgvs": "ENSP00000357637.3:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS750244" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "A", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "ENST00000440978.2:c.422A=" ], "proteinEffect": { "hgvs": "ENSP00000387543.2:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS755822", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000440978.2:c.422A=" }, "RefSeq": { "hgvs": "NM_001375380.1:c.422A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000387543.2:p.Tyr141=" }, "RefSeq": { "hgvs": "NP_001362309.1:p.Tyr141=" } } } }, { "coordinates": [ { "allele": "A", "end": 94, "referenceAllele": "A", "start": 93 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "ENST00000675373.1:n.94A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS775203" }, { "coordinates": [ { "allele": "A", "end": 495, "referenceAllele": "A", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "ENST00000355311.9:c.422A=" ], "proteinEffect": { "hgvs": "ENSP00000347463.4:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS263400" }, { "coordinates": [ { "allele": "A", "end": 495, "referenceAllele": "A", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "ENST00000368648.7:c.422A=" ], "proteinEffect": { "hgvs": "ENSP00000357637.3:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS267082" }, { "@id": "http://reg.genome.network/allele/PA3077079050", "coordinates": [ { "allele": "A", "end": 481, "referenceAllele": "A", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "NM_001005463.2:c.422A=" ], "proteinEffect": { "hgvs": "NP_001005463.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS007715" }, { "coordinates": [ { "allele": "A", "end": 934, "referenceAllele": "A", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "XM_005252667.2:c.422A=" ], "proteinEffect": { "hgvs": "XP_005252724.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS060024" }, { "coordinates": [ { "allele": "A", "end": 934, "referenceAllele": "A", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "XM_005252668.2:c.422A=" ], "proteinEffect": { "hgvs": "XP_005252725.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS060025" }, { "coordinates": [ { "allele": "A", "end": 933, "referenceAllele": "A", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "XM_005252669.2:c.422A=" ], "proteinEffect": { "hgvs": "XP_005252726.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS060026" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "A", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "XM_006717739.2:c.422A=" ], "proteinEffect": { "hgvs": "XP_006717802.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS072307" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "A", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "XM_006717740.2:c.422A=" ], "proteinEffect": { "hgvs": "XP_006717803.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS072308" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "A", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "XM_006717741.2:c.422A=" ], "proteinEffect": { "hgvs": "XP_006717804.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS072309" }, { "coordinates": [ { "allele": "A", "end": 934, "referenceAllele": "A", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "XM_006717742.2:c.422A=" ], "proteinEffect": { "hgvs": "XP_006717805.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS072310" }, { "coordinates": [ { "allele": "A", "end": 933, "referenceAllele": "A", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "XM_006717743.2:c.422A=" ], "proteinEffect": { "hgvs": "XP_006717806.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS072311" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "A", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "XM_006717744.2:c.422A=" ], "proteinEffect": { "hgvs": "XP_006717807.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS072312" }, { "coordinates": [ { "allele": "A", "end": 935, "referenceAllele": "A", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "XM_011539574.1:c.422A=" ], "proteinEffect": { "hgvs": "XP_011537876.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS106524" }, { "coordinates": [ { "allele": "A", "end": 934, "referenceAllele": "A", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "XM_011539576.1:c.422A=" ], "proteinEffect": { "hgvs": "XP_011537878.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS106526" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "A", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "XM_005252667.3:c.422A=" ], "proteinEffect": { "hgvs": "XP_005252724.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS533840" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "A", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "XM_005252668.3:c.422A=" ], "proteinEffect": { "hgvs": "XP_005252725.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS533841" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "A", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "XM_005252669.3:c.422A=" ], "proteinEffect": { "hgvs": "XP_005252726.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS533842" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "A", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "XM_006717739.3:c.422A=" ], "proteinEffect": { "hgvs": "XP_006717802.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS539473" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "A", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "XM_006717740.3:c.422A=" ], "proteinEffect": { "hgvs": "XP_006717803.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS539474" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "A", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "XM_006717741.3:c.422A=" ], "proteinEffect": { "hgvs": "XP_006717804.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS539475" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "A", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "XM_006717742.3:c.422A=" ], "proteinEffect": { "hgvs": "XP_006717805.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS539476" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "A", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "XM_006717743.3:c.422A=" ], "proteinEffect": { "hgvs": "XP_006717806.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS539477" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "A", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "XM_006717744.3:c.422A=" ], "proteinEffect": { "hgvs": "XP_006717807.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS539478" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "A", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "XM_011539574.2:c.422A=" ], "proteinEffect": { "hgvs": "XP_011537876.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS553716" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "A", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "XM_017016027.1:c.422A=" ], "proteinEffect": { "hgvs": "XP_016871516.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS568576" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "A", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "XR_001747076.1:n.928A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS595289" }, { "@id": "http://reg.genome.network/allele/PA3077079050", "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "A", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "NM_001005463.3:c.422A=" ], "proteinEffect": { "hgvs": "NP_001005463.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS675195" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "A", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "NM_001375379.1:c.422A=" ], "proteinEffect": { "hgvs": "NP_001362308.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS693501" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "A", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "NM_001375380.1:c.422A=" ], "proteinEffect": { "hgvs": "NP_001362309.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS693502", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000440978.2:c.422A=" }, "RefSeq": { "hgvs": "NM_001375380.1:c.422A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000387543.2:p.Tyr141=" }, "RefSeq": { "hgvs": "NP_001362309.1:p.Tyr141=" } } } }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "A", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "NM_001375389.1:c.422A=" ], "proteinEffect": { "hgvs": "NP_001362318.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS693504" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "A", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "NM_001375390.1:c.422A=" ], "proteinEffect": { "hgvs": "NP_001362319.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS693505" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "A", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "NM_001375391.1:c.422A=" ], "proteinEffect": { "hgvs": "NP_001362320.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS693506" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "A", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN019087", "geneNCBI_id": 253738, "geneSymbol": "EBF3", "hgvs": [ "NM_001375392.1:c.422A=" ], "proteinEffect": { "hgvs": "NP_001362321.1:p.Tyr141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS693507" } ], "type": "nucleotide" }