Canonical Allele Identifier: CA10171686
Community Standard Title: NM_005243.4(EWSR1):c.1294+6A>T
Gene: EWSR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.29296374A>T , CM000684.2:g.29296374A>T GRCh38
NC_000022.10:g.29692364A>T , CM000684.1:g.29692364A>T GRCh37
NC_000022.9:g.28022364A>T NCBI36
NG_023240.1:g.33367A>T

Transcript Alleles

HGVS Amino-acid Change
NM_005243.4:c.1294+6A>T MANE Select NP_005234.1:n.1294+6A>T
ENST00000397938.7:c.1294+6A>T MANE Select ENSP00000381031.2:n.1294+6A>T
NM_001163285.1:c.1291+6A>T NP_001156757.1:n.1291+6A>T
NM_001163285.2:c.1291+6A>T NP_001156757.1:n.1291+6A>T
NM_001163286.1:c.1126+6A>T NP_001156758.1:n.1126+6A>T
NM_001163286.2:c.1126+6A>T NP_001156758.1:n.1126+6A>T
NM_005243.3:c.1294+6A>T NP_005234.1:n.1294+6A>T
NM_013986.3:c.1309+6A>T NP_053733.2:n.1309+6A>T
NM_013986.4:c.1309+6A>T NP_053733.2:n.1309+6A>T
ENST00000331029.11:c.1180+6A>T ENSP00000330516.7:n.1180+6A>T
ENST00000332035.10:c.1126+6A>T ENSP00000331699.6:n.1126+6A>T
ENST00000332050.10:c.1186+6A>T ENSP00000330896.7:n.1186+6A>T
ENST00000360091.3:c.260+6A>T
ENST00000397938.6:c.1294+6A>T ENSP00000381031.2:n.1294+6A>T
ENST00000406548.5:c.1291+6A>T ENSP00000385726.1:n.1291+6A>T
ENST00000414183.6:c.1309+6A>T ENSP00000400142.2:n.1309+6A>T
ENST00000469669.5:n.1589+6A>T
ENST00000479135.5:n.6244+6A>T
ENST00000483629.5:n.490+6A>T
ENST00000610553.1:n.843+6A>T
ENST00000629659.2:c.1078+6A>T ENSP00000486709.1:n.1078+6A>T
XM_005261389.2:c.1294+6A>T XP_005261446.1:n.1294+6A>T
XM_005261389.4:c.1294+6A>T XP_005261446.1:n.1294+6A>T
XM_005261390.3:c.1126+6A>T XP_005261447.1:n.1126+6A>T
XM_005261390.4:c.1126+6A>T XP_005261447.1:n.1126+6A>T
XM_011529995.1:c.1297+6A>T XP_011528297.1:n.1297+6A>T
XM_011529995.3:c.1297+6A>T XP_011528297.1:n.1297+6A>T
XM_011529996.1:c.1294+6A>T XP_011528298.1:n.1294+6A>T
XM_011529996.3:c.1294+6A>T XP_011528298.1:n.1294+6A>T
XM_011529997.1:c.1297+6A>T XP_011528299.1:n.1297+6A>T
XM_011529997.2:c.1297+6A>T XP_011528299.1:n.1297+6A>T
XM_011529998.1:c.1294+6A>T XP_011528300.1:n.1294+6A>T
XM_011529998.2:c.1294+6A>T XP_011528300.1:n.1294+6A>T
XM_011529999.1:c.1297+6A>T XP_011528301.1:n.1297+6A>T
XM_011529999.3:c.1297+6A>T XP_011528301.1:n.1297+6A>T
XM_011530000.1:c.1297+6A>T XP_011528302.1:n.1297+6A>T
XM_011530000.2:c.1297+6A>T XP_011528302.1:n.1297+6A>T
XM_011530001.1:c.1129+6A>T XP_011528303.1:n.1129+6A>T
XM_011530001.2:c.1129+6A>T XP_011528303.1:n.1129+6A>T
XM_011530002.1:c.1078+6A>T XP_011528304.1:n.1078+6A>T
XM_011530002.3:c.1078+6A>T XP_011528304.1:n.1078+6A>T
XM_017028644.2:c.1291+6A>T XP_016884133.1:n.1291+6A>T
XM_017028645.2:c.1294+6A>T XP_016884134.1:n.1294+6A>T
XM_017028646.2:c.1294+6A>T XP_016884135.1:n.1294+6A>T
XM_017028647.2:c.1291+6A>T XP_016884136.1:n.1291+6A>T
XM_017028648.2:c.1291+6A>T XP_016884137.1:n.1291+6A>T
XM_017028649.2:c.1297+6A>T XP_016884138.1:n.1297+6A>T
XM_017028650.2:c.1297+6A>T XP_016884139.1:n.1297+6A>T
XM_017028651.2:c.1294+6A>T XP_016884140.1:n.1294+6A>T
XM_017028652.2:c.1294+6A>T XP_016884141.1:n.1294+6A>T
XM_017028653.2:c.1291+6A>T XP_016884142.1:n.1291+6A>T
XM_017028654.1:c.1126+6A>T XP_016884143.1:n.1126+6A>T
XM_017028655.1:c.1123+6A>T XP_016884144.1:n.1123+6A>T
XM_017028656.2:c.1294+6A>T XP_016884145.1:n.1294+6A>T
XM_017028657.2:c.1090+6A>T XP_016884146.1:n.1090+6A>T
XM_017028658.1:c.1126+6A>T XP_016884147.1:n.1126+6A>T
XM_017028659.1:c.1123+6A>T XP_016884148.1:n.1123+6A>T
XM_017028660.2:c.1291+6A>T XP_016884149.1:n.1291+6A>T
XM_017028661.2:c.1087+6A>T XP_016884150.1:n.1087+6A>T
XM_017028662.2:c.1123+6A>T XP_016884151.1:n.1123+6A>T
XM_017028663.1:c.1123+6A>T XP_016884152.1:n.1123+6A>T
XM_017028664.2:c.277+6A>T XP_016884153.1:n.277+6A>T
XM_017028665.2:c.277+6A>T XP_016884154.1:n.277+6A>T
XM_017028666.2:c.277+6A>T XP_016884155.1:n.277+6A>T
XM_024452180.1:c.1078+6A>T XP_024307948.1:n.1078+6A>T
XM_024452181.1:c.1075+6A>T XP_024307949.1:n.1075+6A>T
XR_002958676.1:n.1329A>T