Canonical Allele Identifier: CA412808076

Gene: KDM6A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45090749C>T , CM000685.2:g.45090749C>T	GRCh38
NC_000023.10:g.44949994C>T , CM000685.1:g.44949994C>T	GRCh37
NC_000023.9:g.44834938C>T	NCBI36
NG_016260.1:g.222572C>T , LRG_616:g.222572C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001291415.2:c.3919C>T MANE Select	NP_001278344.1:p.Arg1307Trp
ENST00000611820.5:c.3919C>T MANE Select	ENSP00000483595.2:p.Arg1307Trp
NM_001291415.1:c.3919C>T , LRG_616t1:c.3919C>T	NP_001278344.1:p.Arg1307Trp
NM_001291416.1:c.3784C>T	NP_001278345.1:p.Arg1262Trp
NM_001291416.2:c.3784C>T	NP_001278345.1:p.Arg1262Trp
NM_001291417.1:c.3628C>T	NP_001278346.1:p.Arg1210Trp
NM_001291417.2:c.3628C>T	NP_001278346.1:p.Arg1210Trp
NM_001291418.1:c.3526C>T	NP_001278347.1:p.Arg1176Trp
NM_001291418.2:c.3526C>T	NP_001278347.1:p.Arg1176Trp
NM_001291421.1:c.2875C>T	NP_001278350.1:p.Arg959Trp
NM_001291421.2:c.2875C>T	NP_001278350.1:p.Arg959Trp
NM_021140.3:c.3763C>T	NP_066963.2:p.Arg1255Trp
NM_021140.4:c.3763C>T	NP_066963.2:p.Arg1255Trp
NR_111960.1:n.4059C>T
NR_111960.2:n.4046C>T
ENST00000377967.8:c.3763C>T	ENSP00000367203.4:p.Arg1255Trp
ENST00000377967.9:c.3763C>T	ENSP00000367203.4:p.Arg1255Trp
ENST00000382899.8:c.3712C>T	ENSP00000372355.5:p.Arg1238Trp
ENST00000382899.9:c.3784C>T	ENSP00000372355.6:p.Arg1262Trp
ENST00000414389.5:c.2555C>T
ENST00000433797.5:c.2690C>T
ENST00000536777.5:c.3556C>T	ENSP00000437405.2:p.Arg1186Trp
ENST00000536777.6:c.3628C>T	ENSP00000437405.3:p.Arg1210Trp
ENST00000543216.5:c.3610C>T	ENSP00000443078.2:p.Arg1204Trp
ENST00000543216.6:c.3526C>T	ENSP00000443078.3:p.Arg1176Trp
ENST00000611820.4:c.3847C>T	ENSP00000483595.1:p.Arg1283Trp
ENST00000621147.4:c.2595+12256C>T	ENSP00000478793.1:n.2595+12256C>T
ENST00000674541.1:c.*3051C>T	ENSP00000501919.1:n.*3051C>T
ENST00000674564.1:c.3682C>T	ENSP00000502150.1:p.Arg1228Trp
ENST00000674586.1:c.3841C>T	ENSP00000502660.1:p.Arg1281Trp
ENST00000674659.1:c.*3001C>T	ENSP00000502255.1:n.*3001C>T
ENST00000674739.1:n.4821C>T
ENST00000674867.1:c.3625C>T	ENSP00000502060.1:p.Arg1209Trp
ENST00000675157.1:n.3370C>T
ENST00000675182.1:n.3803C>T
ENST00000675514.1:c.*314C>T	ENSP00000502759.1:n.*314C>T
ENST00000675525.1:n.5885C>T
ENST00000675546.1:n.10543C>T
ENST00000675577.1:c.3661C>T	ENSP00000501855.1:p.Arg1221Trp
ENST00000675816.1:n.3939C>T
ENST00000676062.1:c.3784C>T	ENSP00000502311.1:p.Arg1262Trp
ENST00000676085.1:c.*2949C>T	ENSP00000501752.1:n.*2949C>T
ENST00000676133.1:c.*3816C>T	ENSP00000502586.1:n.*3816C>T
ENST00000676343.1:c.3757+819C>T	ENSP00000501761.1:n.3757+819C>T
ENST00000676389.1:n.4206C>T
ENST00000682908.1:c.3663C>T	ENSP00000508158.1:n.3663C>T
ENST00000683021.1:c.3682C>T	ENSP00000507416.1:p.Arg1228Trp
ENST00000683425.1:c.*3246C>T	ENSP00000507291.1:n.*3246C>T
ENST00000684352.1:c.3693C>T	ENSP00000508379.1:n.3693C>T
XM_005272656.3:c.3817C>T	XP_005272713.1:p.Arg1273Trp
XM_005272656.5:c.3817C>T	XP_005272713.1:p.Arg1273Trp
XM_005272659.3:c.3661C>T	XP_005272716.1:p.Arg1221Trp
XM_005272659.5:c.3661C>T	XP_005272716.1:p.Arg1221Trp
XM_011543957.1:c.3976C>T	XP_011542259.1:p.Arg1326Trp
XM_011543958.1:c.3919C>T	XP_011542260.1:p.Arg1307Trp
XM_011543958.3:c.3919C>T	XP_011542260.1:p.Arg1307Trp
XM_011543959.1:c.3874C>T	XP_011542261.1:p.Arg1292Trp
XM_011543960.1:c.3976C>T	XP_011542262.1:p.Arg1326Trp
XM_011543961.1:c.3841C>T	XP_011542263.1:p.Arg1281Trp
XM_011543962.1:c.3820C>T	XP_011542264.1:p.Arg1274Trp
XM_011543963.1:c.3784C>T	XP_011542265.1:p.Arg1262Trp
XM_011543963.3:c.3784C>T	XP_011542265.1:p.Arg1262Trp
XM_011543964.1:c.3763C>T	XP_011542266.1:p.Arg1255Trp
XM_011543964.3:c.3763C>T	XP_011542266.1:p.Arg1255Trp
XM_011543965.1:c.3739C>T	XP_011542267.1:p.Arg1247Trp
XM_011543966.1:c.3718C>T	XP_011542268.1:p.Arg1240Trp
XM_011543967.1:c.3820C>T	XP_011542269.1:p.Arg1274Trp
XM_011543968.1:c.3685C>T	XP_011542270.1:p.Arg1229Trp
XM_011543969.1:c.3682C>T	XP_011542271.1:p.Arg1228Trp
XM_011543969.3:c.3682C>T	XP_011542271.1:p.Arg1228Trp
XM_011543970.1:c.3661C>T	XP_011542272.1:p.Arg1221Trp
XM_011543970.3:c.3661C>T	XP_011542272.1:p.Arg1221Trp
XM_011543971.1:c.3739C>T	XP_011542273.1:p.Arg1247Trp
XM_011543972.1:c.3628C>T	XP_011542274.1:p.Arg1210Trp
XM_011543972.3:c.3628C>T	XP_011542274.1:p.Arg1210Trp
XM_011543973.1:c.3685C>T	XP_011542275.1:p.Arg1229Trp
XM_011543974.1:c.3763C>T	XP_011542276.1:p.Arg1255Trp
XM_011543974.2:c.3763C>T	XP_011542276.1:p.Arg1255Trp
XM_011543975.1:c.3166C>T	XP_011542277.1:p.Arg1056Trp
XM_011543975.2:c.3166C>T	XP_011542277.1:p.Arg1056Trp
XM_017029783.2:c.3682C>T	XP_016885272.1:p.Arg1228Trp
XM_017029784.1:c.3031C>T	XP_016885273.1:p.Arg1011Trp
XM_017029785.1:c.2773C>T	XP_016885274.1:p.Arg925Trp
XM_024452438.1:c.3817C>T	XP_024308206.1:p.Arg1273Trp
XM_024452439.1:c.3394C>T	XP_024308207.1:p.Arg1132Trp
XR_002958804.1:n.4289C>T
XR_949018.1:n.4353C>T