Canonical Allele Identifier: CA412805210

Gene: KDM6A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45085952G>A , CM000685.2:g.45085952G>A	GRCh38
NC_000023.10:g.44945197G>A , CM000685.1:g.44945197G>A	GRCh37
NC_000023.9:g.44830141G>A	NCBI36
NG_016260.1:g.217775G>A , LRG_616:g.217775G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001291415.2:c.3677G>A MANE Select	NP_001278344.1:p.Trp1226Ter
ENST00000611820.5:c.3677G>A MANE Select	ENSP00000483595.2:p.Trp1226Ter
NM_001291415.1:c.3677G>A , LRG_616t1:c.3677G>A	NP_001278344.1:p.Trp1226Ter
NM_001291416.1:c.3542G>A	NP_001278345.1:p.Trp1181Ter
NM_001291416.2:c.3542G>A	NP_001278345.1:p.Trp1181Ter
NM_001291417.1:c.3386G>A	NP_001278346.1:p.Trp1129Ter
NM_001291417.2:c.3386G>A	NP_001278346.1:p.Trp1129Ter
NM_001291418.1:c.3284G>A	NP_001278347.1:p.Trp1095Ter
NM_001291418.2:c.3284G>A	NP_001278347.1:p.Trp1095Ter
NM_001291421.1:c.2633G>A	NP_001278350.1:p.Trp878Ter
NM_001291421.2:c.2633G>A	NP_001278350.1:p.Trp878Ter
NM_021140.3:c.3521G>A	NP_066963.2:p.Trp1174Ter
NM_021140.4:c.3521G>A	NP_066963.2:p.Trp1174Ter
NR_111960.1:n.3817G>A
NR_111960.2:n.3804G>A
ENST00000377967.8:c.3521G>A	ENSP00000367203.4:p.Trp1174Ter
ENST00000377967.9:c.3521G>A	ENSP00000367203.4:p.Trp1174Ter
ENST00000382899.8:c.3470G>A	ENSP00000372355.5:p.Trp1157Ter
ENST00000382899.9:c.3542G>A	ENSP00000372355.6:p.Trp1181Ter
ENST00000414389.5:c.2313G>A
ENST00000433797.5:c.2448G>A
ENST00000484732.1:n.367G>A
ENST00000536777.5:c.3314G>A	ENSP00000437405.2:p.Trp1105Ter
ENST00000536777.6:c.3386G>A	ENSP00000437405.3:p.Trp1129Ter
ENST00000543216.5:c.3368G>A	ENSP00000443078.2:p.Trp1123Ter
ENST00000543216.6:c.3284G>A	ENSP00000443078.3:p.Trp1095Ter
ENST00000611820.4:c.3605G>A	ENSP00000483595.1:p.Trp1202Ter
ENST00000621147.4:c.2595+7459G>A	ENSP00000478793.1:n.2595+7459G>A
ENST00000674541.1:c.*2809G>A	ENSP00000501919.1:n.*2809G>A
ENST00000674564.1:c.3440G>A	ENSP00000502150.1:p.Trp1147Ter
ENST00000674586.1:c.3599G>A	ENSP00000502660.1:p.Trp1200Ter
ENST00000674659.1:c.*2759G>A	ENSP00000502255.1:n.*2759G>A
ENST00000674739.1:n.4579G>A
ENST00000674867.1:c.3383G>A	ENSP00000502060.1:p.Trp1128Ter
ENST00000675157.1:n.3128G>A
ENST00000675182.1:n.3561G>A
ENST00000675514.1:c.*72G>A	ENSP00000502759.1:n.*72G>A
ENST00000675525.1:n.5643G>A
ENST00000675546.1:n.10301G>A
ENST00000675577.1:c.3419G>A	ENSP00000501855.1:p.Trp1140Ter
ENST00000675816.1:n.3697G>A
ENST00000676026.1:n.1894G>A
ENST00000676062.1:c.3542G>A	ENSP00000502311.1:p.Trp1181Ter
ENST00000676085.1:c.*2707G>A	ENSP00000501752.1:n.*2707G>A
ENST00000676133.1:c.*3574G>A	ENSP00000502586.1:n.*3574G>A
ENST00000676343.1:c.3542G>A	ENSP00000501761.1:p.Trp1181Ter
ENST00000676389.1:n.3964G>A
ENST00000682908.1:c.3421G>A	ENSP00000508158.1:n.3421G>A
ENST00000683021.1:c.3440G>A	ENSP00000507416.1:p.Trp1147Ter
ENST00000683425.1:c.*3004G>A	ENSP00000507291.1:n.*3004G>A
ENST00000684352.1:c.3451G>A	ENSP00000508379.1:n.3451G>A
XM_005272656.3:c.3575G>A	XP_005272713.1:p.Trp1192Ter
XM_005272656.5:c.3575G>A	XP_005272713.1:p.Trp1192Ter
XM_005272659.3:c.3419G>A	XP_005272716.1:p.Trp1140Ter
XM_005272659.5:c.3419G>A	XP_005272716.1:p.Trp1140Ter
XM_011543957.1:c.3734G>A	XP_011542259.1:p.Trp1245Ter
XM_011543958.1:c.3677G>A	XP_011542260.1:p.Trp1226Ter
XM_011543958.3:c.3677G>A	XP_011542260.1:p.Trp1226Ter
XM_011543959.1:c.3632G>A	XP_011542261.1:p.Trp1211Ter
XM_011543960.1:c.3734G>A	XP_011542262.1:p.Trp1245Ter
XM_011543961.1:c.3599G>A	XP_011542263.1:p.Trp1200Ter
XM_011543962.1:c.3578G>A	XP_011542264.1:p.Trp1193Ter
XM_011543963.1:c.3542G>A	XP_011542265.1:p.Trp1181Ter
XM_011543963.3:c.3542G>A	XP_011542265.1:p.Trp1181Ter
XM_011543964.1:c.3521G>A	XP_011542266.1:p.Trp1174Ter
XM_011543964.3:c.3521G>A	XP_011542266.1:p.Trp1174Ter
XM_011543965.1:c.3497G>A	XP_011542267.1:p.Trp1166Ter
XM_011543966.1:c.3476G>A	XP_011542268.1:p.Trp1159Ter
XM_011543967.1:c.3578G>A	XP_011542269.1:p.Trp1193Ter
XM_011543968.1:c.3443G>A	XP_011542270.1:p.Trp1148Ter
XM_011543969.1:c.3440G>A	XP_011542271.1:p.Trp1147Ter
XM_011543969.3:c.3440G>A	XP_011542271.1:p.Trp1147Ter
XM_011543970.1:c.3419G>A	XP_011542272.1:p.Trp1140Ter
XM_011543970.3:c.3419G>A	XP_011542272.1:p.Trp1140Ter
XM_011543971.1:c.3497G>A	XP_011542273.1:p.Trp1166Ter
XM_011543972.1:c.3386G>A	XP_011542274.1:p.Trp1129Ter
XM_011543972.3:c.3386G>A	XP_011542274.1:p.Trp1129Ter
XM_011543973.1:c.3443G>A	XP_011542275.1:p.Trp1148Ter
XM_011543974.1:c.3521G>A	XP_011542276.1:p.Trp1174Ter
XM_011543974.2:c.3521G>A	XP_011542276.1:p.Trp1174Ter
XM_011543975.1:c.2924G>A	XP_011542277.1:p.Trp975Ter
XM_011543975.2:c.2924G>A	XP_011542277.1:p.Trp975Ter
XM_011543976.1:c.3646+2344G>A	XP_011542278.1:n.3646+2344G>A
XM_017029783.2:c.3440G>A	XP_016885272.1:p.Trp1147Ter
XM_017029784.1:c.2789G>A	XP_016885273.1:p.Trp930Ter
XM_017029785.1:c.2531G>A	XP_016885274.1:p.Trp844Ter
XM_024452438.1:c.3575G>A	XP_024308206.1:p.Trp1192Ter
XM_024452439.1:c.3152G>A	XP_024308207.1:p.Trp1051Ter
XR_002958804.1:n.4047G>A
XR_949018.1:n.4111G>A