Canonical Allele Identifier: CA206562

Gene: KDM6A

Linked Data

• ClinVar Variation Id: 211257
• ClinVar RCV Id: RCV000193227 ; RCV000493253
• dbSNP Id: rs797045644
• MyVariant Identifiers: chrX:g.44949074A>G (hg19) ; chrX:g.45089829A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45089829A>G , CM000685.2:g.45089829A>G	GRCh38
NC_000023.10:g.44949074A>G , CM000685.1:g.44949074A>G	GRCh37
NC_000023.9:g.44834018A>G	NCBI36
NG_016260.1:g.221652A>G , LRG_616:g.221652A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682908.1:c.3535A>G	ENSP00000508158.1:n.3535A>G
ENST00000683021.1:c.3554A>G	ENSP00000507416.1:p.Gln1185Arg
ENST00000683425.1:c.*3118A>G	ENSP00000507291.1:n.*3118A>G
ENST00000684352.1:c.3565A>G	ENSP00000508379.1:n.3565A>G
ENST00000377967.9:c.3635A>G	ENSP00000367203.4:p.Gln1212Arg
ENST00000382899.9:c.3656A>G	ENSP00000372355.6:p.Gln1219Arg
ENST00000536777.6:c.3500A>G	ENSP00000437405.3:p.Gln1167Arg
ENST00000543216.6:c.3398A>G	ENSP00000443078.3:p.Gln1133Arg
ENST00000611820.5:c.3791A>G MANE Select	ENSP00000483595.2:p.Gln1264Arg
ENST00000674541.1:c.*2923A>G	ENSP00000501919.1:n.*2923A>G
ENST00000674564.1:c.3554A>G	ENSP00000502150.1:p.Gln1185Arg
ENST00000674586.1:c.3713A>G	ENSP00000502660.1:p.Gln1238Arg
ENST00000674659.1:c.*2873A>G	ENSP00000502255.1:n.*2873A>G
ENST00000674739.1:n.4693A>G
ENST00000674867.1:c.3497A>G	ENSP00000502060.1:p.Gln1166Arg
ENST00000675157.1:n.3242A>G
ENST00000675182.1:n.3675A>G
ENST00000675514.1:c.*186A>G	ENSP00000502759.1:n.*186A>G
ENST00000675525.1:n.5757A>G
ENST00000675546.1:n.10415A>G
ENST00000675577.1:c.3533A>G	ENSP00000501855.1:p.Gln1178Arg
ENST00000675816.1:n.3811A>G
ENST00000676062.1:c.3656A>G	ENSP00000502311.1:p.Gln1219Arg
ENST00000676085.1:c.*2821A>G	ENSP00000501752.1:n.*2821A>G
ENST00000676133.1:c.*3688A>G	ENSP00000502586.1:n.*3688A>G
ENST00000676343.1:c.3656A>G	ENSP00000501761.1:p.Gln1219Arg
ENST00000676389.1:n.4078A>G
ENST00000377967.8:c.3635A>G	ENSP00000367203.4:p.Gln1212Arg
ENST00000382899.8:c.3584A>G	ENSP00000372355.5:p.Gln1195Arg
ENST00000414389.5:c.2427A>G
ENST00000433797.5:c.2562A>G
ENST00000536777.5:c.3428A>G	ENSP00000437405.2:p.Gln1143Arg
ENST00000543216.5:c.3482A>G	ENSP00000443078.2:p.Gln1161Arg
ENST00000611820.4:c.3719A>G	ENSP00000483595.1:p.Gln1240Arg
ENST00000621147.4:c.2595+11336A>G	ENSP00000478793.1:n.2595+11336A>G
NM_001291415.1:c.3791A>G , LRG_616t1:c.3791A>G	NP_001278344.1:p.Gln1264Arg
NM_001291416.1:c.3656A>G	NP_001278345.1:p.Gln1219Arg
NM_001291417.1:c.3500A>G	NP_001278346.1:p.Gln1167Arg
NM_001291418.1:c.3398A>G	NP_001278347.1:p.Gln1133Arg
NM_001291421.1:c.2747A>G	NP_001278350.1:p.Gln916Arg
NM_021140.3:c.3635A>G	NP_066963.2:p.Gln1212Arg
NR_111960.1:n.3931A>G
XM_005272656.3:c.3689A>G	XP_005272713.1:p.Gln1230Arg
XM_005272659.3:c.3533A>G	XP_005272716.1:p.Gln1178Arg
XM_011543957.1:c.3848A>G	XP_011542259.1:p.Gln1283Arg
XM_011543958.1:c.3791A>G	XP_011542260.1:p.Gln1264Arg
XM_011543959.1:c.3746A>G	XP_011542261.1:p.Gln1249Arg
XM_011543960.1:c.3848A>G	XP_011542262.1:p.Gln1283Arg
XM_011543961.1:c.3713A>G	XP_011542263.1:p.Gln1238Arg
XM_011543962.1:c.3692A>G	XP_011542264.1:p.Gln1231Arg
XM_011543963.1:c.3656A>G	XP_011542265.1:p.Gln1219Arg
XM_011543964.1:c.3635A>G	XP_011542266.1:p.Gln1212Arg
XM_011543965.1:c.3611A>G	XP_011542267.1:p.Gln1204Arg
XM_011543966.1:c.3590A>G	XP_011542268.1:p.Gln1197Arg
XM_011543967.1:c.3692A>G	XP_011542269.1:p.Gln1231Arg
XM_011543968.1:c.3557A>G	XP_011542270.1:p.Gln1186Arg
XM_011543969.1:c.3554A>G	XP_011542271.1:p.Gln1185Arg
XM_011543970.1:c.3533A>G	XP_011542272.1:p.Gln1178Arg
XM_011543971.1:c.3611A>G	XP_011542273.1:p.Gln1204Arg
XM_011543972.1:c.3500A>G	XP_011542274.1:p.Gln1167Arg
XM_011543973.1:c.3557A>G	XP_011542275.1:p.Gln1186Arg
XM_011543974.1:c.3635A>G	XP_011542276.1:p.Gln1212Arg
XM_011543975.1:c.3038A>G	XP_011542277.1:p.Gln1013Arg
XM_011543976.1:c.*76A>G	XP_011542278.1:n.*76A>G
XR_949018.1:n.4225A>G
XM_005272656.5:c.3689A>G	XP_005272713.1:p.Gln1230Arg
XM_005272659.5:c.3533A>G	XP_005272716.1:p.Gln1178Arg
XM_011543958.3:c.3791A>G	XP_011542260.1:p.Gln1264Arg
XM_011543963.3:c.3656A>G	XP_011542265.1:p.Gln1219Arg
XM_011543964.3:c.3635A>G	XP_011542266.1:p.Gln1212Arg
XM_011543969.3:c.3554A>G	XP_011542271.1:p.Gln1185Arg
XM_011543970.3:c.3533A>G	XP_011542272.1:p.Gln1178Arg
XM_011543972.3:c.3500A>G	XP_011542274.1:p.Gln1167Arg
XM_011543974.2:c.3635A>G	XP_011542276.1:p.Gln1212Arg
XM_011543975.2:c.3038A>G	XP_011542277.1:p.Gln1013Arg
XM_017029783.2:c.3554A>G	XP_016885272.1:p.Gln1185Arg
XM_017029784.1:c.2903A>G	XP_016885273.1:p.Gln968Arg
XM_017029785.1:c.2645A>G	XP_016885274.1:p.Gln882Arg
XM_024452438.1:c.3689A>G	XP_024308206.1:p.Gln1230Arg
XM_024452439.1:c.3266A>G	XP_024308207.1:p.Gln1089Arg
XR_002958804.1:n.4161A>G
NM_001291415.2:c.3791A>G MANE Select	NP_001278344.1:p.Gln1264Arg
NM_001291416.2:c.3656A>G	NP_001278345.1:p.Gln1219Arg
NM_001291417.2:c.3500A>G	NP_001278346.1:p.Gln1167Arg
NM_001291418.2:c.3398A>G	NP_001278347.1:p.Gln1133Arg
NM_001291421.2:c.2747A>G	NP_001278350.1:p.Gln916Arg
NM_021140.4:c.3635A>G	NP_066963.2:p.Gln1212Arg
NR_111960.2:n.3918A>G