Canonical Allele Identifier: CA412804999

Gene: KDM6A

Linked Data

• ClinVar Variation Id: 545087
• ClinVar RCV Id: RCV000656306 ; RCV000690858
• dbSNP Id: rs1556350571
• MyVariant Identifiers: chrX:g.44945134G>A (hg19) ; chrX:g.45085889G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45085889G>A , CM000685.2:g.45085889G>A	GRCh38
NC_000023.10:g.44945134G>A , CM000685.1:g.44945134G>A	GRCh37
NC_000023.9:g.44830078G>A	NCBI36
NG_016260.1:g.217712G>A , LRG_616:g.217712G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682908.1:c.3358G>A	ENSP00000508158.1:n.3358G>A
ENST00000683021.1:c.3377G>A	ENSP00000507416.1:p.Cys1126Tyr
ENST00000683425.1:c.*2941G>A	ENSP00000507291.1:n.*2941G>A
ENST00000684352.1:c.3388G>A	ENSP00000508379.1:n.3388G>A
ENST00000377967.9:c.3458G>A	ENSP00000367203.4:p.Cys1153Tyr
ENST00000382899.9:c.3479G>A	ENSP00000372355.6:p.Cys1160Tyr
ENST00000536777.6:c.3323G>A	ENSP00000437405.3:p.Cys1108Tyr
ENST00000543216.6:c.3221G>A	ENSP00000443078.3:p.Cys1074Tyr
ENST00000611820.5:c.3614G>A MANE Select	ENSP00000483595.2:p.Cys1205Tyr
ENST00000674541.1:c.*2746G>A	ENSP00000501919.1:n.*2746G>A
ENST00000674564.1:c.3377G>A	ENSP00000502150.1:p.Cys1126Tyr
ENST00000674586.1:c.3536G>A	ENSP00000502660.1:p.Cys1179Tyr
ENST00000674659.1:c.*2696G>A	ENSP00000502255.1:n.*2696G>A
ENST00000674739.1:n.4516G>A
ENST00000674867.1:c.3320G>A	ENSP00000502060.1:p.Cys1107Tyr
ENST00000675157.1:n.3065G>A
ENST00000675182.1:n.3498G>A
ENST00000675514.1:c.*9G>A	ENSP00000502759.1:n.*9G>A
ENST00000675525.1:n.5580G>A
ENST00000675546.1:n.10238G>A
ENST00000675577.1:c.3356G>A	ENSP00000501855.1:p.Cys1119Tyr
ENST00000675816.1:n.3634G>A
ENST00000676026.1:n.1831G>A
ENST00000676062.1:c.3479G>A	ENSP00000502311.1:p.Cys1160Tyr
ENST00000676085.1:c.*2644G>A	ENSP00000501752.1:n.*2644G>A
ENST00000676133.1:c.*3511G>A	ENSP00000502586.1:n.*3511G>A
ENST00000676343.1:c.3479G>A	ENSP00000501761.1:p.Cys1160Tyr
ENST00000676389.1:n.3901G>A
ENST00000377967.8:c.3458G>A	ENSP00000367203.4:p.Cys1153Tyr
ENST00000382899.8:c.3407G>A	ENSP00000372355.5:p.Cys1136Tyr
ENST00000414389.5:c.2250G>A
ENST00000433797.5:c.2385G>A
ENST00000484732.1:n.304G>A
ENST00000536777.5:c.3251G>A	ENSP00000437405.2:p.Cys1084Tyr
ENST00000543216.5:c.3305G>A	ENSP00000443078.2:p.Cys1102Tyr
ENST00000611820.4:c.3542G>A	ENSP00000483595.1:p.Cys1181Tyr
ENST00000621147.4:c.2595+7396G>A	ENSP00000478793.1:n.2595+7396G>A
NM_001291415.1:c.3614G>A , LRG_616t1:c.3614G>A	NP_001278344.1:p.Cys1205Tyr
NM_001291416.1:c.3479G>A	NP_001278345.1:p.Cys1160Tyr
NM_001291417.1:c.3323G>A	NP_001278346.1:p.Cys1108Tyr
NM_001291418.1:c.3221G>A	NP_001278347.1:p.Cys1074Tyr
NM_001291421.1:c.2570G>A	NP_001278350.1:p.Cys857Tyr
NM_021140.3:c.3458G>A	NP_066963.2:p.Cys1153Tyr
NR_111960.1:n.3754G>A
XM_005272656.3:c.3512G>A	XP_005272713.1:p.Cys1171Tyr
XM_005272659.3:c.3356G>A	XP_005272716.1:p.Cys1119Tyr
XM_011543957.1:c.3671G>A	XP_011542259.1:p.Cys1224Tyr
XM_011543958.1:c.3614G>A	XP_011542260.1:p.Cys1205Tyr
XM_011543959.1:c.3569G>A	XP_011542261.1:p.Cys1190Tyr
XM_011543960.1:c.3671G>A	XP_011542262.1:p.Cys1224Tyr
XM_011543961.1:c.3536G>A	XP_011542263.1:p.Cys1179Tyr
XM_011543962.1:c.3515G>A	XP_011542264.1:p.Cys1172Tyr
XM_011543963.1:c.3479G>A	XP_011542265.1:p.Cys1160Tyr
XM_011543964.1:c.3458G>A	XP_011542266.1:p.Cys1153Tyr
XM_011543965.1:c.3434G>A	XP_011542267.1:p.Cys1145Tyr
XM_011543966.1:c.3413G>A	XP_011542268.1:p.Cys1138Tyr
XM_011543967.1:c.3515G>A	XP_011542269.1:p.Cys1172Tyr
XM_011543968.1:c.3380G>A	XP_011542270.1:p.Cys1127Tyr
XM_011543969.1:c.3377G>A	XP_011542271.1:p.Cys1126Tyr
XM_011543970.1:c.3356G>A	XP_011542272.1:p.Cys1119Tyr
XM_011543971.1:c.3434G>A	XP_011542273.1:p.Cys1145Tyr
XM_011543972.1:c.3323G>A	XP_011542274.1:p.Cys1108Tyr
XM_011543973.1:c.3380G>A	XP_011542275.1:p.Cys1127Tyr
XM_011543974.1:c.3458G>A	XP_011542276.1:p.Cys1153Tyr
XM_011543975.1:c.2861G>A	XP_011542277.1:p.Cys954Tyr
XM_011543976.1:c.3646+2281G>A	XP_011542278.1:n.3646+2281G>A
XR_949018.1:n.4048G>A
XM_005272656.5:c.3512G>A	XP_005272713.1:p.Cys1171Tyr
XM_005272659.5:c.3356G>A	XP_005272716.1:p.Cys1119Tyr
XM_011543958.3:c.3614G>A	XP_011542260.1:p.Cys1205Tyr
XM_011543963.3:c.3479G>A	XP_011542265.1:p.Cys1160Tyr
XM_011543964.3:c.3458G>A	XP_011542266.1:p.Cys1153Tyr
XM_011543969.3:c.3377G>A	XP_011542271.1:p.Cys1126Tyr
XM_011543970.3:c.3356G>A	XP_011542272.1:p.Cys1119Tyr
XM_011543972.3:c.3323G>A	XP_011542274.1:p.Cys1108Tyr
XM_011543974.2:c.3458G>A	XP_011542276.1:p.Cys1153Tyr
XM_011543975.2:c.2861G>A	XP_011542277.1:p.Cys954Tyr
XM_017029783.2:c.3377G>A	XP_016885272.1:p.Cys1126Tyr
XM_017029784.1:c.2726G>A	XP_016885273.1:p.Cys909Tyr
XM_017029785.1:c.2468G>A	XP_016885274.1:p.Cys823Tyr
XM_024452438.1:c.3512G>A	XP_024308206.1:p.Cys1171Tyr
XM_024452439.1:c.3089G>A	XP_024308207.1:p.Cys1030Tyr
XR_002958804.1:n.3984G>A
NM_001291415.2:c.3614G>A MANE Select	NP_001278344.1:p.Cys1205Tyr
NM_001291416.2:c.3479G>A	NP_001278345.1:p.Cys1160Tyr
NM_001291417.2:c.3323G>A	NP_001278346.1:p.Cys1108Tyr
NM_001291418.2:c.3221G>A	NP_001278347.1:p.Cys1074Tyr
NM_001291421.2:c.2570G>A	NP_001278350.1:p.Cys857Tyr
NM_021140.4:c.3458G>A	NP_066963.2:p.Cys1153Tyr
NR_111960.2:n.3741G>A