Canonical Allele Identifier: CA412805234

Gene: KDM6A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45085957G>A , CM000685.2:g.45085957G>A	GRCh38
NC_000023.10:g.44945202G>A , CM000685.1:g.44945202G>A	GRCh37
NC_000023.9:g.44830146G>A	NCBI36
NG_016260.1:g.217780G>A , LRG_616:g.217780G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001291415.2:c.3682G>A MANE Select	NP_001278344.1:p.Val1228Ile
ENST00000611820.5:c.3682G>A MANE Select	ENSP00000483595.2:p.Val1228Ile
NM_001291415.1:c.3682G>A , LRG_616t1:c.3682G>A	NP_001278344.1:p.Val1228Ile
NM_001291416.1:c.3547G>A	NP_001278345.1:p.Val1183Ile
NM_001291416.2:c.3547G>A	NP_001278345.1:p.Val1183Ile
NM_001291417.1:c.3391G>A	NP_001278346.1:p.Val1131Ile
NM_001291417.2:c.3391G>A	NP_001278346.1:p.Val1131Ile
NM_001291418.1:c.3289G>A	NP_001278347.1:p.Val1097Ile
NM_001291418.2:c.3289G>A	NP_001278347.1:p.Val1097Ile
NM_001291421.1:c.2638G>A	NP_001278350.1:p.Val880Ile
NM_001291421.2:c.2638G>A	NP_001278350.1:p.Val880Ile
NM_021140.3:c.3526G>A	NP_066963.2:p.Val1176Ile
NM_021140.4:c.3526G>A	NP_066963.2:p.Val1176Ile
NR_111960.1:n.3822G>A
NR_111960.2:n.3809G>A
ENST00000377967.8:c.3526G>A	ENSP00000367203.4:p.Val1176Ile
ENST00000377967.9:c.3526G>A	ENSP00000367203.4:p.Val1176Ile
ENST00000382899.8:c.3475G>A	ENSP00000372355.5:p.Val1159Ile
ENST00000382899.9:c.3547G>A	ENSP00000372355.6:p.Val1183Ile
ENST00000414389.5:c.2318G>A
ENST00000433797.5:c.2453G>A
ENST00000484732.1:n.372G>A
ENST00000536777.5:c.3319G>A	ENSP00000437405.2:p.Val1107Ile
ENST00000536777.6:c.3391G>A	ENSP00000437405.3:p.Val1131Ile
ENST00000543216.5:c.3373G>A	ENSP00000443078.2:p.Val1125Ile
ENST00000543216.6:c.3289G>A	ENSP00000443078.3:p.Val1097Ile
ENST00000611820.4:c.3610G>A	ENSP00000483595.1:p.Val1204Ile
ENST00000621147.4:c.2595+7464G>A	ENSP00000478793.1:n.2595+7464G>A
ENST00000674541.1:c.*2814G>A	ENSP00000501919.1:n.*2814G>A
ENST00000674564.1:c.3445G>A	ENSP00000502150.1:p.Val1149Ile
ENST00000674586.1:c.3604G>A	ENSP00000502660.1:p.Val1202Ile
ENST00000674659.1:c.*2764G>A	ENSP00000502255.1:n.*2764G>A
ENST00000674739.1:n.4584G>A
ENST00000674867.1:c.3388G>A	ENSP00000502060.1:p.Val1130Ile
ENST00000675157.1:n.3133G>A
ENST00000675182.1:n.3566G>A
ENST00000675514.1:c.*77G>A	ENSP00000502759.1:n.*77G>A
ENST00000675525.1:n.5648G>A
ENST00000675546.1:n.10306G>A
ENST00000675577.1:c.3424G>A	ENSP00000501855.1:p.Val1142Ile
ENST00000675816.1:n.3702G>A
ENST00000676026.1:n.1899G>A
ENST00000676062.1:c.3547G>A	ENSP00000502311.1:p.Val1183Ile
ENST00000676085.1:c.*2712G>A	ENSP00000501752.1:n.*2712G>A
ENST00000676133.1:c.*3579G>A	ENSP00000502586.1:n.*3579G>A
ENST00000676343.1:c.3547G>A	ENSP00000501761.1:p.Val1183Ile
ENST00000676389.1:n.3969G>A
ENST00000682908.1:c.3426G>A	ENSP00000508158.1:n.3426G>A
ENST00000683021.1:c.3445G>A	ENSP00000507416.1:p.Val1149Ile
ENST00000683425.1:c.*3009G>A	ENSP00000507291.1:n.*3009G>A
ENST00000684352.1:c.3456G>A	ENSP00000508379.1:n.3456G>A
XM_005272656.3:c.3580G>A	XP_005272713.1:p.Val1194Ile
XM_005272656.5:c.3580G>A	XP_005272713.1:p.Val1194Ile
XM_005272659.3:c.3424G>A	XP_005272716.1:p.Val1142Ile
XM_005272659.5:c.3424G>A	XP_005272716.1:p.Val1142Ile
XM_011543957.1:c.3739G>A	XP_011542259.1:p.Val1247Ile
XM_011543958.1:c.3682G>A	XP_011542260.1:p.Val1228Ile
XM_011543958.3:c.3682G>A	XP_011542260.1:p.Val1228Ile
XM_011543959.1:c.3637G>A	XP_011542261.1:p.Val1213Ile
XM_011543960.1:c.3739G>A	XP_011542262.1:p.Val1247Ile
XM_011543961.1:c.3604G>A	XP_011542263.1:p.Val1202Ile
XM_011543962.1:c.3583G>A	XP_011542264.1:p.Val1195Ile
XM_011543963.1:c.3547G>A	XP_011542265.1:p.Val1183Ile
XM_011543963.3:c.3547G>A	XP_011542265.1:p.Val1183Ile
XM_011543964.1:c.3526G>A	XP_011542266.1:p.Val1176Ile
XM_011543964.3:c.3526G>A	XP_011542266.1:p.Val1176Ile
XM_011543965.1:c.3502G>A	XP_011542267.1:p.Val1168Ile
XM_011543966.1:c.3481G>A	XP_011542268.1:p.Val1161Ile
XM_011543967.1:c.3583G>A	XP_011542269.1:p.Val1195Ile
XM_011543968.1:c.3448G>A	XP_011542270.1:p.Val1150Ile
XM_011543969.1:c.3445G>A	XP_011542271.1:p.Val1149Ile
XM_011543969.3:c.3445G>A	XP_011542271.1:p.Val1149Ile
XM_011543970.1:c.3424G>A	XP_011542272.1:p.Val1142Ile
XM_011543970.3:c.3424G>A	XP_011542272.1:p.Val1142Ile
XM_011543971.1:c.3502G>A	XP_011542273.1:p.Val1168Ile
XM_011543972.1:c.3391G>A	XP_011542274.1:p.Val1131Ile
XM_011543972.3:c.3391G>A	XP_011542274.1:p.Val1131Ile
XM_011543973.1:c.3448G>A	XP_011542275.1:p.Val1150Ile
XM_011543974.1:c.3526G>A	XP_011542276.1:p.Val1176Ile
XM_011543974.2:c.3526G>A	XP_011542276.1:p.Val1176Ile
XM_011543975.1:c.2929G>A	XP_011542277.1:p.Val977Ile
XM_011543975.2:c.2929G>A	XP_011542277.1:p.Val977Ile
XM_011543976.1:c.3646+2349G>A	XP_011542278.1:n.3646+2349G>A
XM_017029783.2:c.3445G>A	XP_016885272.1:p.Val1149Ile
XM_017029784.1:c.2794G>A	XP_016885273.1:p.Val932Ile
XM_017029785.1:c.2536G>A	XP_016885274.1:p.Val846Ile
XM_024452438.1:c.3580G>A	XP_024308206.1:p.Val1194Ile
XM_024452439.1:c.3157G>A	XP_024308207.1:p.Val1053Ile
XR_002958804.1:n.4052G>A
XR_949018.1:n.4116G>A