Canonical Allele Identifier: CA412777227
Community Standard Title: NM_001291415.2(KDM6A):c.4243C>T (p.Arg1415Ter)
Gene: KDM6A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.45110160C>T , CM000685.2:g.45110160C>T GRCh38
NC_000023.10:g.44969405C>T , CM000685.1:g.44969405C>T GRCh37
NC_000023.9:g.44854349C>T NCBI36
NG_016260.1:g.241983C>T , LRG_616:g.241983C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001291415.2:c.4243C>T MANE Select NP_001278344.1:p.Arg1415Ter
ENST00000611820.5:c.4243C>T MANE Select ENSP00000483595.2:p.Arg1415Ter
NM_001291415.1:c.4243C>T , LRG_616t1:c.4243C>T NP_001278344.1:p.Arg1415Ter
NM_001291416.1:c.4108C>T NP_001278345.1:p.Arg1370Ter
NM_001291416.2:c.4108C>T NP_001278345.1:p.Arg1370Ter
NM_001291417.1:c.3952C>T NP_001278346.1:p.Arg1318Ter
NM_001291417.2:c.3952C>T NP_001278346.1:p.Arg1318Ter
NM_001291418.1:c.3850C>T NP_001278347.1:p.Arg1284Ter
NM_001291418.2:c.3850C>T NP_001278347.1:p.Arg1284Ter
NM_001291421.1:c.3199C>T NP_001278350.1:p.Arg1067Ter
NM_001291421.2:c.3199C>T NP_001278350.1:p.Arg1067Ter
NM_021140.3:c.4087C>T NP_066963.2:p.Arg1363Ter
NM_021140.4:c.4087C>T NP_066963.2:p.Arg1363Ter
NR_111960.1:n.4351C>T
NR_111960.2:n.4338C>T
ENST00000377967.8:c.4087C>T ENSP00000367203.4:p.Arg1363Ter
ENST00000377967.9:c.4087C>T ENSP00000367203.4:p.Arg1363Ter
ENST00000382899.8:c.4036C>T ENSP00000372355.5:p.Arg1346Ter
ENST00000382899.9:c.4108C>T ENSP00000372355.6:p.Arg1370Ter
ENST00000414389.5:c.2879C>T
ENST00000431196.2:c.365C>T
ENST00000431196.3:c.365C>T
ENST00000433797.5:c.3014C>T
ENST00000479423.1:n.679C>T
ENST00000479423.2:n.3395C>T
ENST00000536777.5:c.3880C>T ENSP00000437405.2:p.Arg1294Ter
ENST00000536777.6:c.3952C>T ENSP00000437405.3:p.Arg1318Ter
ENST00000543216.5:c.*92C>T ENSP00000443078.2:n.*92C>T
ENST00000543216.6:c.3850C>T ENSP00000443078.3:p.Arg1284Ter
ENST00000611820.4:c.4171C>T ENSP00000483595.1:p.Arg1391Ter
ENST00000621147.4:c.2757C>T ENSP00000478793.1:n.2757C>T
ENST00000674541.1:c.*3375C>T ENSP00000501919.1:n.*3375C>T
ENST00000674564.1:c.*92C>T ENSP00000502150.1:n.*92C>T
ENST00000674586.1:c.4165C>T ENSP00000502660.1:p.Arg1389Ter
ENST00000674659.1:c.*3325C>T ENSP00000502255.1:n.*3325C>T
ENST00000674739.1:n.5145C>T
ENST00000674867.1:c.3949C>T ENSP00000502060.1:p.Arg1317Ter
ENST00000675157.1:n.3694C>T
ENST00000675182.1:n.4127C>T
ENST00000675514.1:c.*638C>T ENSP00000502759.1:n.*638C>T
ENST00000675525.1:n.6209C>T
ENST00000675546.1:n.10867C>T
ENST00000675577.1:c.3985C>T ENSP00000501855.1:p.Arg1329Ter
ENST00000675816.1:n.5131C>T
ENST00000676062.1:c.*269C>T ENSP00000502311.1:n.*269C>T
ENST00000676085.1:c.*3273C>T ENSP00000501752.1:n.*3273C>T
ENST00000676133.1:c.*4140C>T ENSP00000502586.1:n.*4140C>T
ENST00000676343.1:c.*195C>T ENSP00000501761.1:n.*195C>T
ENST00000676389.1:n.4530C>T
ENST00000682908.1:c.3987C>T ENSP00000508158.1:n.3987C>T
ENST00000683021.1:c.4006C>T ENSP00000507416.1:p.Arg1336Ter
ENST00000683425.1:c.*3570C>T ENSP00000507291.1:n.*3570C>T
ENST00000684352.1:c.4017C>T ENSP00000508379.1:n.4017C>T
XM_005272656.3:c.4141C>T XP_005272713.1:p.Arg1381Ter
XM_005272656.5:c.4141C>T XP_005272713.1:p.Arg1381Ter
XM_005272659.3:c.3985C>T XP_005272716.1:p.Arg1329Ter
XM_005272659.5:c.3985C>T XP_005272716.1:p.Arg1329Ter
XM_011543957.1:c.4408C>T XP_011542259.1:p.Arg1470Ter
XM_011543958.1:c.4351C>T XP_011542260.1:p.Arg1451Ter
XM_011543958.3:c.4351C>T XP_011542260.1:p.Arg1451Ter
XM_011543959.1:c.4306C>T XP_011542261.1:p.Arg1436Ter
XM_011543960.1:c.4300C>T XP_011542262.1:p.Arg1434Ter
XM_011543961.1:c.4273C>T XP_011542263.1:p.Arg1425Ter
XM_011543962.1:c.4252C>T XP_011542264.1:p.Arg1418Ter
XM_011543963.1:c.4216C>T XP_011542265.1:p.Arg1406Ter
XM_011543963.3:c.4216C>T XP_011542265.1:p.Arg1406Ter
XM_011543964.1:c.4195C>T XP_011542266.1:p.Arg1399Ter
XM_011543964.3:c.4195C>T XP_011542266.1:p.Arg1399Ter
XM_011543965.1:c.4171C>T XP_011542267.1:p.Arg1391Ter
XM_011543966.1:c.4150C>T XP_011542268.1:p.Arg1384Ter
XM_011543967.1:c.4144C>T XP_011542269.1:p.Arg1382Ter
XM_011543968.1:c.4117C>T XP_011542270.1:p.Arg1373Ter
XM_011543969.1:c.4114C>T XP_011542271.1:p.Arg1372Ter
XM_011543969.3:c.4114C>T XP_011542271.1:p.Arg1372Ter
XM_011543970.1:c.4093C>T XP_011542272.1:p.Arg1365Ter
XM_011543970.3:c.4093C>T XP_011542272.1:p.Arg1365Ter
XM_011543971.1:c.4063C>T XP_011542273.1:p.Arg1355Ter
XM_011543972.1:c.4060C>T XP_011542274.1:p.Arg1354Ter
XM_011543972.3:c.4060C>T XP_011542274.1:p.Arg1354Ter
XM_011543973.1:c.4009C>T XP_011542275.1:p.Arg1337Ter
XM_011543975.1:c.3598C>T XP_011542277.1:p.Arg1200Ter
XM_011543975.2:c.3598C>T XP_011542277.1:p.Arg1200Ter
XM_017029783.2:c.4006C>T XP_016885272.1:p.Arg1336Ter
XM_017029784.1:c.3463C>T XP_016885273.1:p.Arg1155Ter
XM_017029785.1:c.3097C>T XP_016885274.1:p.Arg1033Ter
XM_024452438.1:c.4249C>T XP_024308206.1:p.Arg1417Ter
XM_024452439.1:c.3826C>T XP_024308207.1:p.Arg1276Ter
XR_002958804.1:n.4785C>T