Canonical Allele Identifier: CA412807224

Gene: KDM6A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45089849T>A , CM000685.2:g.45089849T>A	GRCh38
NC_000023.10:g.44949094T>A , CM000685.1:g.44949094T>A	GRCh37
NC_000023.9:g.44834038T>A	NCBI36
NG_016260.1:g.221672T>A , LRG_616:g.221672T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001291415.2:c.3811T>A MANE Select	NP_001278344.1:p.Trp1271Arg
ENST00000611820.5:c.3811T>A MANE Select	ENSP00000483595.2:p.Trp1271Arg
NM_001291415.1:c.3811T>A , LRG_616t1:c.3811T>A	NP_001278344.1:p.Trp1271Arg
NM_001291416.1:c.3676T>A	NP_001278345.1:p.Trp1226Arg
NM_001291416.2:c.3676T>A	NP_001278345.1:p.Trp1226Arg
NM_001291417.1:c.3520T>A	NP_001278346.1:p.Trp1174Arg
NM_001291417.2:c.3520T>A	NP_001278346.1:p.Trp1174Arg
NM_001291418.1:c.3418T>A	NP_001278347.1:p.Trp1140Arg
NM_001291418.2:c.3418T>A	NP_001278347.1:p.Trp1140Arg
NM_001291421.1:c.2767T>A	NP_001278350.1:p.Trp923Arg
NM_001291421.2:c.2767T>A	NP_001278350.1:p.Trp923Arg
NM_021140.3:c.3655T>A	NP_066963.2:p.Trp1219Arg
NM_021140.4:c.3655T>A	NP_066963.2:p.Trp1219Arg
NR_111960.1:n.3951T>A
NR_111960.2:n.3938T>A
ENST00000377967.8:c.3655T>A	ENSP00000367203.4:p.Trp1219Arg
ENST00000377967.9:c.3655T>A	ENSP00000367203.4:p.Trp1219Arg
ENST00000382899.8:c.3604T>A	ENSP00000372355.5:p.Trp1202Arg
ENST00000382899.9:c.3676T>A	ENSP00000372355.6:p.Trp1226Arg
ENST00000414389.5:c.2447T>A
ENST00000433797.5:c.2582T>A
ENST00000536777.5:c.3448T>A	ENSP00000437405.2:p.Trp1150Arg
ENST00000536777.6:c.3520T>A	ENSP00000437405.3:p.Trp1174Arg
ENST00000543216.5:c.3502T>A	ENSP00000443078.2:p.Trp1168Arg
ENST00000543216.6:c.3418T>A	ENSP00000443078.3:p.Trp1140Arg
ENST00000611820.4:c.3739T>A	ENSP00000483595.1:p.Trp1247Arg
ENST00000621147.4:c.2595+11356T>A	ENSP00000478793.1:n.2595+11356T>A
ENST00000674541.1:c.*2943T>A	ENSP00000501919.1:n.*2943T>A
ENST00000674564.1:c.3574T>A	ENSP00000502150.1:p.Trp1192Arg
ENST00000674586.1:c.3733T>A	ENSP00000502660.1:p.Trp1245Arg
ENST00000674659.1:c.*2893T>A	ENSP00000502255.1:n.*2893T>A
ENST00000674739.1:n.4713T>A
ENST00000674867.1:c.3517T>A	ENSP00000502060.1:p.Trp1173Arg
ENST00000675157.1:n.3262T>A
ENST00000675182.1:n.3695T>A
ENST00000675514.1:c.*206T>A	ENSP00000502759.1:n.*206T>A
ENST00000675525.1:n.5777T>A
ENST00000675546.1:n.10435T>A
ENST00000675577.1:c.3553T>A	ENSP00000501855.1:p.Trp1185Arg
ENST00000675816.1:n.3831T>A
ENST00000676062.1:c.3676T>A	ENSP00000502311.1:p.Trp1226Arg
ENST00000676085.1:c.*2841T>A	ENSP00000501752.1:n.*2841T>A
ENST00000676133.1:c.*3708T>A	ENSP00000502586.1:n.*3708T>A
ENST00000676343.1:c.3676T>A	ENSP00000501761.1:p.Trp1226Arg
ENST00000676389.1:n.4098T>A
ENST00000682908.1:c.3555T>A	ENSP00000508158.1:n.3555T>A
ENST00000683021.1:c.3574T>A	ENSP00000507416.1:p.Trp1192Arg
ENST00000683425.1:c.*3138T>A	ENSP00000507291.1:n.*3138T>A
ENST00000684352.1:c.3585T>A	ENSP00000508379.1:n.3585T>A
XM_005272656.3:c.3709T>A	XP_005272713.1:p.Trp1237Arg
XM_005272656.5:c.3709T>A	XP_005272713.1:p.Trp1237Arg
XM_005272659.3:c.3553T>A	XP_005272716.1:p.Trp1185Arg
XM_005272659.5:c.3553T>A	XP_005272716.1:p.Trp1185Arg
XM_011543957.1:c.3868T>A	XP_011542259.1:p.Trp1290Arg
XM_011543958.1:c.3811T>A	XP_011542260.1:p.Trp1271Arg
XM_011543958.3:c.3811T>A	XP_011542260.1:p.Trp1271Arg
XM_011543959.1:c.3766T>A	XP_011542261.1:p.Trp1256Arg
XM_011543960.1:c.3868T>A	XP_011542262.1:p.Trp1290Arg
XM_011543961.1:c.3733T>A	XP_011542263.1:p.Trp1245Arg
XM_011543962.1:c.3712T>A	XP_011542264.1:p.Trp1238Arg
XM_011543963.1:c.3676T>A	XP_011542265.1:p.Trp1226Arg
XM_011543963.3:c.3676T>A	XP_011542265.1:p.Trp1226Arg
XM_011543964.1:c.3655T>A	XP_011542266.1:p.Trp1219Arg
XM_011543964.3:c.3655T>A	XP_011542266.1:p.Trp1219Arg
XM_011543965.1:c.3631T>A	XP_011542267.1:p.Trp1211Arg
XM_011543966.1:c.3610T>A	XP_011542268.1:p.Trp1204Arg
XM_011543967.1:c.3712T>A	XP_011542269.1:p.Trp1238Arg
XM_011543968.1:c.3577T>A	XP_011542270.1:p.Trp1193Arg
XM_011543969.1:c.3574T>A	XP_011542271.1:p.Trp1192Arg
XM_011543969.3:c.3574T>A	XP_011542271.1:p.Trp1192Arg
XM_011543970.1:c.3553T>A	XP_011542272.1:p.Trp1185Arg
XM_011543970.3:c.3553T>A	XP_011542272.1:p.Trp1185Arg
XM_011543971.1:c.3631T>A	XP_011542273.1:p.Trp1211Arg
XM_011543972.1:c.3520T>A	XP_011542274.1:p.Trp1174Arg
XM_011543972.3:c.3520T>A	XP_011542274.1:p.Trp1174Arg
XM_011543973.1:c.3577T>A	XP_011542275.1:p.Trp1193Arg
XM_011543974.1:c.3655T>A	XP_011542276.1:p.Trp1219Arg
XM_011543974.2:c.3655T>A	XP_011542276.1:p.Trp1219Arg
XM_011543975.1:c.3058T>A	XP_011542277.1:p.Trp1020Arg
XM_011543975.2:c.3058T>A	XP_011542277.1:p.Trp1020Arg
XM_017029783.2:c.3574T>A	XP_016885272.1:p.Trp1192Arg
XM_017029784.1:c.2923T>A	XP_016885273.1:p.Trp975Arg
XM_017029785.1:c.2665T>A	XP_016885274.1:p.Trp889Arg
XM_024452438.1:c.3709T>A	XP_024308206.1:p.Trp1237Arg
XM_024452439.1:c.3286T>A	XP_024308207.1:p.Trp1096Arg
XR_002958804.1:n.4181T>A
XR_949018.1:n.4245T>A