Canonical Allele Identifier: CA412808134

Gene: KDM6A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45090755G>T , CM000685.2:g.45090755G>T	GRCh38
NC_000023.10:g.44950000G>T , CM000685.1:g.44950000G>T	GRCh37
NC_000023.9:g.44834944G>T	NCBI36
NG_016260.1:g.222578G>T , LRG_616:g.222578G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001291415.2:c.3925G>T MANE Select	NP_001278344.1:p.Glu1309Ter
ENST00000611820.5:c.3925G>T MANE Select	ENSP00000483595.2:p.Glu1309Ter
NM_001291415.1:c.3925G>T , LRG_616t1:c.3925G>T	NP_001278344.1:p.Glu1309Ter
NM_001291416.1:c.3790G>T	NP_001278345.1:p.Glu1264Ter
NM_001291416.2:c.3790G>T	NP_001278345.1:p.Glu1264Ter
NM_001291417.1:c.3634G>T	NP_001278346.1:p.Glu1212Ter
NM_001291417.2:c.3634G>T	NP_001278346.1:p.Glu1212Ter
NM_001291418.1:c.3532G>T	NP_001278347.1:p.Glu1178Ter
NM_001291418.2:c.3532G>T	NP_001278347.1:p.Glu1178Ter
NM_001291421.1:c.2881G>T	NP_001278350.1:p.Glu961Ter
NM_001291421.2:c.2881G>T	NP_001278350.1:p.Glu961Ter
NM_021140.3:c.3769G>T	NP_066963.2:p.Glu1257Ter
NM_021140.4:c.3769G>T	NP_066963.2:p.Glu1257Ter
NR_111960.1:n.4065G>T
NR_111960.2:n.4052G>T
ENST00000377967.8:c.3769G>T	ENSP00000367203.4:p.Glu1257Ter
ENST00000377967.9:c.3769G>T	ENSP00000367203.4:p.Glu1257Ter
ENST00000382899.8:c.3718G>T	ENSP00000372355.5:p.Glu1240Ter
ENST00000382899.9:c.3790G>T	ENSP00000372355.6:p.Glu1264Ter
ENST00000414389.5:c.2561G>T
ENST00000433797.5:c.2696G>T
ENST00000536777.5:c.3562G>T	ENSP00000437405.2:p.Glu1188Ter
ENST00000536777.6:c.3634G>T	ENSP00000437405.3:p.Glu1212Ter
ENST00000543216.5:c.3616G>T	ENSP00000443078.2:p.Glu1206Ter
ENST00000543216.6:c.3532G>T	ENSP00000443078.3:p.Glu1178Ter
ENST00000611820.4:c.3853G>T	ENSP00000483595.1:p.Glu1285Ter
ENST00000621147.4:c.2595+12262G>T	ENSP00000478793.1:n.2595+12262G>T
ENST00000674541.1:c.*3057G>T	ENSP00000501919.1:n.*3057G>T
ENST00000674564.1:c.3688G>T	ENSP00000502150.1:p.Glu1230Ter
ENST00000674586.1:c.3847G>T	ENSP00000502660.1:p.Glu1283Ter
ENST00000674659.1:c.*3007G>T	ENSP00000502255.1:n.*3007G>T
ENST00000674739.1:n.4827G>T
ENST00000674867.1:c.3631G>T	ENSP00000502060.1:p.Glu1211Ter
ENST00000675157.1:n.3376G>T
ENST00000675182.1:n.3809G>T
ENST00000675514.1:c.*320G>T	ENSP00000502759.1:n.*320G>T
ENST00000675525.1:n.5891G>T
ENST00000675546.1:n.10549G>T
ENST00000675577.1:c.3667G>T	ENSP00000501855.1:p.Glu1223Ter
ENST00000675816.1:n.3945G>T
ENST00000676062.1:c.3790G>T	ENSP00000502311.1:p.Glu1264Ter
ENST00000676085.1:c.*2955G>T	ENSP00000501752.1:n.*2955G>T
ENST00000676133.1:c.*3822G>T	ENSP00000502586.1:n.*3822G>T
ENST00000676343.1:c.3757+825G>T	ENSP00000501761.1:n.3757+825G>T
ENST00000676389.1:n.4212G>T
ENST00000682908.1:c.3669G>T	ENSP00000508158.1:n.3669G>T
ENST00000683021.1:c.3688G>T	ENSP00000507416.1:p.Glu1230Ter
ENST00000683425.1:c.*3252G>T	ENSP00000507291.1:n.*3252G>T
ENST00000684352.1:c.3699G>T	ENSP00000508379.1:n.3699G>T
XM_005272656.3:c.3823G>T	XP_005272713.1:p.Glu1275Ter
XM_005272656.5:c.3823G>T	XP_005272713.1:p.Glu1275Ter
XM_005272659.3:c.3667G>T	XP_005272716.1:p.Glu1223Ter
XM_005272659.5:c.3667G>T	XP_005272716.1:p.Glu1223Ter
XM_011543957.1:c.3982G>T	XP_011542259.1:p.Glu1328Ter
XM_011543958.1:c.3925G>T	XP_011542260.1:p.Glu1309Ter
XM_011543958.3:c.3925G>T	XP_011542260.1:p.Glu1309Ter
XM_011543959.1:c.3880G>T	XP_011542261.1:p.Glu1294Ter
XM_011543960.1:c.3982G>T	XP_011542262.1:p.Glu1328Ter
XM_011543961.1:c.3847G>T	XP_011542263.1:p.Glu1283Ter
XM_011543962.1:c.3826G>T	XP_011542264.1:p.Glu1276Ter
XM_011543963.1:c.3790G>T	XP_011542265.1:p.Glu1264Ter
XM_011543963.3:c.3790G>T	XP_011542265.1:p.Glu1264Ter
XM_011543964.1:c.3769G>T	XP_011542266.1:p.Glu1257Ter
XM_011543964.3:c.3769G>T	XP_011542266.1:p.Glu1257Ter
XM_011543965.1:c.3745G>T	XP_011542267.1:p.Glu1249Ter
XM_011543966.1:c.3724G>T	XP_011542268.1:p.Glu1242Ter
XM_011543967.1:c.3826G>T	XP_011542269.1:p.Glu1276Ter
XM_011543968.1:c.3691G>T	XP_011542270.1:p.Glu1231Ter
XM_011543969.1:c.3688G>T	XP_011542271.1:p.Glu1230Ter
XM_011543969.3:c.3688G>T	XP_011542271.1:p.Glu1230Ter
XM_011543970.1:c.3667G>T	XP_011542272.1:p.Glu1223Ter
XM_011543970.3:c.3667G>T	XP_011542272.1:p.Glu1223Ter
XM_011543971.1:c.3745G>T	XP_011542273.1:p.Glu1249Ter
XM_011543972.1:c.3634G>T	XP_011542274.1:p.Glu1212Ter
XM_011543972.3:c.3634G>T	XP_011542274.1:p.Glu1212Ter
XM_011543973.1:c.3691G>T	XP_011542275.1:p.Glu1231Ter
XM_011543974.1:c.3769G>T	XP_011542276.1:p.Glu1257Ter
XM_011543974.2:c.3769G>T	XP_011542276.1:p.Glu1257Ter
XM_011543975.1:c.3172G>T	XP_011542277.1:p.Glu1058Ter
XM_011543975.2:c.3172G>T	XP_011542277.1:p.Glu1058Ter
XM_017029783.2:c.3688G>T	XP_016885272.1:p.Glu1230Ter
XM_017029784.1:c.3037G>T	XP_016885273.1:p.Glu1013Ter
XM_017029785.1:c.2779G>T	XP_016885274.1:p.Glu927Ter
XM_024452438.1:c.3823G>T	XP_024308206.1:p.Glu1275Ter
XM_024452439.1:c.3400G>T	XP_024308207.1:p.Glu1134Ter
XR_002958804.1:n.4295G>T
XR_949018.1:n.4359G>T