Canonical Allele Identifier: CA412807107

Gene: KDM6A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45089831C>T , CM000685.2:g.45089831C>T	GRCh38
NC_000023.10:g.44949076C>T , CM000685.1:g.44949076C>T	GRCh37
NC_000023.9:g.44834020C>T	NCBI36
NG_016260.1:g.221654C>T , LRG_616:g.221654C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001291415.2:c.3793C>T MANE Select	NP_001278344.1:p.Arg1265Ter
ENST00000611820.5:c.3793C>T MANE Select	ENSP00000483595.2:p.Arg1265Ter
NM_001291415.1:c.3793C>T , LRG_616t1:c.3793C>T	NP_001278344.1:p.Arg1265Ter
NM_001291416.1:c.3658C>T	NP_001278345.1:p.Arg1220Ter
NM_001291416.2:c.3658C>T	NP_001278345.1:p.Arg1220Ter
NM_001291417.1:c.3502C>T	NP_001278346.1:p.Arg1168Ter
NM_001291417.2:c.3502C>T	NP_001278346.1:p.Arg1168Ter
NM_001291418.1:c.3400C>T	NP_001278347.1:p.Arg1134Ter
NM_001291418.2:c.3400C>T	NP_001278347.1:p.Arg1134Ter
NM_001291421.1:c.2749C>T	NP_001278350.1:p.Arg917Ter
NM_001291421.2:c.2749C>T	NP_001278350.1:p.Arg917Ter
NM_021140.3:c.3637C>T	NP_066963.2:p.Arg1213Ter
NM_021140.4:c.3637C>T	NP_066963.2:p.Arg1213Ter
NR_111960.1:n.3933C>T
NR_111960.2:n.3920C>T
ENST00000377967.8:c.3637C>T	ENSP00000367203.4:p.Arg1213Ter
ENST00000377967.9:c.3637C>T	ENSP00000367203.4:p.Arg1213Ter
ENST00000382899.8:c.3586C>T	ENSP00000372355.5:p.Arg1196Ter
ENST00000382899.9:c.3658C>T	ENSP00000372355.6:p.Arg1220Ter
ENST00000414389.5:c.2429C>T
ENST00000433797.5:c.2564C>T
ENST00000536777.5:c.3430C>T	ENSP00000437405.2:p.Arg1144Ter
ENST00000536777.6:c.3502C>T	ENSP00000437405.3:p.Arg1168Ter
ENST00000543216.5:c.3484C>T	ENSP00000443078.2:p.Arg1162Ter
ENST00000543216.6:c.3400C>T	ENSP00000443078.3:p.Arg1134Ter
ENST00000611820.4:c.3721C>T	ENSP00000483595.1:p.Arg1241Ter
ENST00000621147.4:c.2595+11338C>T	ENSP00000478793.1:n.2595+11338C>T
ENST00000674541.1:c.*2925C>T	ENSP00000501919.1:n.*2925C>T
ENST00000674564.1:c.3556C>T	ENSP00000502150.1:p.Arg1186Ter
ENST00000674586.1:c.3715C>T	ENSP00000502660.1:p.Arg1239Ter
ENST00000674659.1:c.*2875C>T	ENSP00000502255.1:n.*2875C>T
ENST00000674739.1:n.4695C>T
ENST00000674867.1:c.3499C>T	ENSP00000502060.1:p.Arg1167Ter
ENST00000675157.1:n.3244C>T
ENST00000675182.1:n.3677C>T
ENST00000675514.1:c.*188C>T	ENSP00000502759.1:n.*188C>T
ENST00000675525.1:n.5759C>T
ENST00000675546.1:n.10417C>T
ENST00000675577.1:c.3535C>T	ENSP00000501855.1:p.Arg1179Ter
ENST00000675816.1:n.3813C>T
ENST00000676062.1:c.3658C>T	ENSP00000502311.1:p.Arg1220Ter
ENST00000676085.1:c.*2823C>T	ENSP00000501752.1:n.*2823C>T
ENST00000676133.1:c.*3690C>T	ENSP00000502586.1:n.*3690C>T
ENST00000676343.1:c.3658C>T	ENSP00000501761.1:p.Arg1220Ter
ENST00000676389.1:n.4080C>T
ENST00000682908.1:c.3537C>T	ENSP00000508158.1:n.3537C>T
ENST00000683021.1:c.3556C>T	ENSP00000507416.1:p.Arg1186Ter
ENST00000683425.1:c.*3120C>T	ENSP00000507291.1:n.*3120C>T
ENST00000684352.1:c.3567C>T	ENSP00000508379.1:n.3567C>T
XM_005272656.3:c.3691C>T	XP_005272713.1:p.Arg1231Ter
XM_005272656.5:c.3691C>T	XP_005272713.1:p.Arg1231Ter
XM_005272659.3:c.3535C>T	XP_005272716.1:p.Arg1179Ter
XM_005272659.5:c.3535C>T	XP_005272716.1:p.Arg1179Ter
XM_011543957.1:c.3850C>T	XP_011542259.1:p.Arg1284Ter
XM_011543958.1:c.3793C>T	XP_011542260.1:p.Arg1265Ter
XM_011543958.3:c.3793C>T	XP_011542260.1:p.Arg1265Ter
XM_011543959.1:c.3748C>T	XP_011542261.1:p.Arg1250Ter
XM_011543960.1:c.3850C>T	XP_011542262.1:p.Arg1284Ter
XM_011543961.1:c.3715C>T	XP_011542263.1:p.Arg1239Ter
XM_011543962.1:c.3694C>T	XP_011542264.1:p.Arg1232Ter
XM_011543963.1:c.3658C>T	XP_011542265.1:p.Arg1220Ter
XM_011543963.3:c.3658C>T	XP_011542265.1:p.Arg1220Ter
XM_011543964.1:c.3637C>T	XP_011542266.1:p.Arg1213Ter
XM_011543964.3:c.3637C>T	XP_011542266.1:p.Arg1213Ter
XM_011543965.1:c.3613C>T	XP_011542267.1:p.Arg1205Ter
XM_011543966.1:c.3592C>T	XP_011542268.1:p.Arg1198Ter
XM_011543967.1:c.3694C>T	XP_011542269.1:p.Arg1232Ter
XM_011543968.1:c.3559C>T	XP_011542270.1:p.Arg1187Ter
XM_011543969.1:c.3556C>T	XP_011542271.1:p.Arg1186Ter
XM_011543969.3:c.3556C>T	XP_011542271.1:p.Arg1186Ter
XM_011543970.1:c.3535C>T	XP_011542272.1:p.Arg1179Ter
XM_011543970.3:c.3535C>T	XP_011542272.1:p.Arg1179Ter
XM_011543971.1:c.3613C>T	XP_011542273.1:p.Arg1205Ter
XM_011543972.1:c.3502C>T	XP_011542274.1:p.Arg1168Ter
XM_011543972.3:c.3502C>T	XP_011542274.1:p.Arg1168Ter
XM_011543973.1:c.3559C>T	XP_011542275.1:p.Arg1187Ter
XM_011543974.1:c.3637C>T	XP_011542276.1:p.Arg1213Ter
XM_011543974.2:c.3637C>T	XP_011542276.1:p.Arg1213Ter
XM_011543975.1:c.3040C>T	XP_011542277.1:p.Arg1014Ter
XM_011543975.2:c.3040C>T	XP_011542277.1:p.Arg1014Ter
XM_011543976.1:c.*78C>T	XP_011542278.1:n.*78C>T
XM_017029783.2:c.3556C>T	XP_016885272.1:p.Arg1186Ter
XM_017029784.1:c.2905C>T	XP_016885273.1:p.Arg969Ter
XM_017029785.1:c.2647C>T	XP_016885274.1:p.Arg883Ter
XM_024452438.1:c.3691C>T	XP_024308206.1:p.Arg1231Ter
XM_024452439.1:c.3268C>T	XP_024308207.1:p.Arg1090Ter
XR_002958804.1:n.4163C>T
XR_949018.1:n.4227C>T