Canonical Allele Identifier: CA412790411

Gene: KDM6A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45063728C>T , CM000685.2:g.45063728C>T	GRCh38
NC_000023.10:g.44922973C>T , CM000685.1:g.44922973C>T	GRCh37
NC_000023.9:g.44807917C>T	NCBI36
NG_016260.1:g.195551C>T , LRG_616:g.195551C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001291415.2:c.1990C>T MANE Select	NP_001278344.1:p.Arg664Ter
ENST00000611820.5:c.1990C>T MANE Select	ENSP00000483595.2:p.Arg664Ter
NM_001291415.1:c.1990C>T , LRG_616t1:c.1990C>T	NP_001278344.1:p.Arg664Ter
NM_001291416.1:c.1855C>T	NP_001278345.1:p.Arg619Ter
NM_001291416.2:c.1855C>T	NP_001278345.1:p.Arg619Ter
NM_001291417.1:c.1699C>T	NP_001278346.1:p.Arg567Ter
NM_001291417.2:c.1699C>T	NP_001278346.1:p.Arg567Ter
NM_001291418.1:c.1597C>T	NP_001278347.1:p.Arg533Ter
NM_001291418.2:c.1597C>T	NP_001278347.1:p.Arg533Ter
NM_001291421.1:c.946C>T	NP_001278350.1:p.Arg316Ter
NM_001291421.2:c.946C>T	NP_001278350.1:p.Arg316Ter
NM_021140.3:c.1834C>T	NP_066963.2:p.Arg612Ter
NM_021140.4:c.1834C>T	NP_066963.2:p.Arg612Ter
NR_111960.1:n.2130C>T
NR_111960.2:n.2117C>T
ENST00000377967.8:c.1834C>T	ENSP00000367203.4:p.Arg612Ter
ENST00000377967.9:c.1834C>T	ENSP00000367203.4:p.Arg612Ter
ENST00000382899.8:c.1783C>T	ENSP00000372355.5:p.Arg595Ter
ENST00000382899.9:c.1855C>T	ENSP00000372355.6:p.Arg619Ter
ENST00000414389.5:c.626C>T
ENST00000433797.5:c.761C>T
ENST00000536777.5:c.1627C>T	ENSP00000437405.2:p.Arg543Ter
ENST00000536777.6:c.1699C>T	ENSP00000437405.3:p.Arg567Ter
ENST00000543216.5:c.1681C>T	ENSP00000443078.2:p.Arg561Ter
ENST00000543216.6:c.1597C>T	ENSP00000443078.3:p.Arg533Ter
ENST00000611820.4:c.1918C>T	ENSP00000483595.1:p.Arg640Ter
ENST00000621147.4:c.1503C>T	ENSP00000478793.1:n.1503C>T
ENST00000621147.5:c.1503C>T	ENSP00000478793.1:n.1503C>T
ENST00000674541.1:c.*1122C>T	ENSP00000501919.1:n.*1122C>T
ENST00000674564.1:c.1753C>T	ENSP00000502150.1:p.Arg585Ter
ENST00000674586.1:c.1912C>T	ENSP00000502660.1:p.Arg638Ter
ENST00000674659.1:c.*1278C>T	ENSP00000502255.1:n.*1278C>T
ENST00000674739.1:n.2892C>T
ENST00000674867.1:c.1696C>T	ENSP00000502060.1:p.Arg566Ter
ENST00000675157.1:n.1441C>T
ENST00000675182.1:n.1874C>T
ENST00000675440.1:n.2010C>T
ENST00000675514.1:c.1834C>T	ENSP00000502759.1:p.Arg612Ter
ENST00000675525.1:n.3956C>T
ENST00000675546.1:n.2201C>T
ENST00000675577.1:c.1732C>T	ENSP00000501855.1:p.Arg578Ter
ENST00000675816.1:n.2010C>T
ENST00000676062.1:c.1855C>T	ENSP00000502311.1:p.Arg619Ter
ENST00000676085.1:c.*1020C>T	ENSP00000501752.1:n.*1020C>T
ENST00000676133.1:c.*1424C>T	ENSP00000502586.1:n.*1424C>T
ENST00000676343.1:c.1855C>T	ENSP00000501761.1:p.Arg619Ter
ENST00000676389.1:n.1814C>T
ENST00000682908.1:c.1734C>T	ENSP00000508158.1:n.1734C>T
ENST00000683021.1:c.1753C>T	ENSP00000507416.1:p.Arg585Ter
ENST00000683425.1:c.*1317C>T	ENSP00000507291.1:n.*1317C>T
ENST00000684352.1:c.1855C>T	ENSP00000508379.1:p.Arg619Ter
XM_005272656.3:c.1888C>T	XP_005272713.1:p.Arg630Ter
XM_005272656.5:c.1888C>T	XP_005272713.1:p.Arg630Ter
XM_005272659.3:c.1732C>T	XP_005272716.1:p.Arg578Ter
XM_005272659.5:c.1732C>T	XP_005272716.1:p.Arg578Ter
XM_011543957.1:c.2047C>T	XP_011542259.1:p.Arg683Ter
XM_011543958.1:c.1990C>T	XP_011542260.1:p.Arg664Ter
XM_011543958.3:c.1990C>T	XP_011542260.1:p.Arg664Ter
XM_011543959.1:c.1945C>T	XP_011542261.1:p.Arg649Ter
XM_011543960.1:c.2047C>T	XP_011542262.1:p.Arg683Ter
XM_011543961.1:c.1912C>T	XP_011542263.1:p.Arg638Ter
XM_011543962.1:c.1891C>T	XP_011542264.1:p.Arg631Ter
XM_011543963.1:c.1855C>T	XP_011542265.1:p.Arg619Ter
XM_011543963.3:c.1855C>T	XP_011542265.1:p.Arg619Ter
XM_011543964.1:c.1834C>T	XP_011542266.1:p.Arg612Ter
XM_011543964.3:c.1834C>T	XP_011542266.1:p.Arg612Ter
XM_011543965.1:c.1810C>T	XP_011542267.1:p.Arg604Ter
XM_011543966.1:c.1789C>T	XP_011542268.1:p.Arg597Ter
XM_011543967.1:c.1891C>T	XP_011542269.1:p.Arg631Ter
XM_011543968.1:c.1756C>T	XP_011542270.1:p.Arg586Ter
XM_011543969.1:c.1753C>T	XP_011542271.1:p.Arg585Ter
XM_011543969.3:c.1753C>T	XP_011542271.1:p.Arg585Ter
XM_011543970.1:c.1732C>T	XP_011542272.1:p.Arg578Ter
XM_011543970.3:c.1732C>T	XP_011542272.1:p.Arg578Ter
XM_011543971.1:c.1810C>T	XP_011542273.1:p.Arg604Ter
XM_011543972.1:c.1699C>T	XP_011542274.1:p.Arg567Ter
XM_011543972.3:c.1699C>T	XP_011542274.1:p.Arg567Ter
XM_011543973.1:c.1756C>T	XP_011542275.1:p.Arg586Ter
XM_011543974.1:c.1834C>T	XP_011542276.1:p.Arg612Ter
XM_011543974.2:c.1834C>T	XP_011542276.1:p.Arg612Ter
XM_011543975.1:c.1237C>T	XP_011542277.1:p.Arg413Ter
XM_011543975.2:c.1237C>T	XP_011542277.1:p.Arg413Ter
XM_011543976.1:c.2047C>T	XP_011542278.1:p.Arg683Ter
XM_017029783.2:c.1753C>T	XP_016885272.1:p.Arg585Ter
XM_017029784.1:c.1102C>T	XP_016885273.1:p.Arg368Ter
XM_017029785.1:c.844C>T	XP_016885274.1:p.Arg282Ter
XM_024452438.1:c.1888C>T	XP_024308206.1:p.Arg630Ter
XM_024452439.1:c.1465C>T	XP_024308207.1:p.Arg489Ter
XR_002958804.1:n.2360C>T
XR_949018.1:n.2424C>T