Canonical Allele Identifier: CA329046540

Gene: KDM6A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45063729G>A , CM000685.2:g.45063729G>A	GRCh38
NC_000023.10:g.44922974G>A , CM000685.1:g.44922974G>A	GRCh37
NC_000023.9:g.44807918G>A	NCBI36
NG_016260.1:g.195552G>A , LRG_616:g.195552G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001291415.2:c.1991G>A MANE Select	NP_001278344.1:p.Arg664Gln
ENST00000611820.5:c.1991G>A MANE Select	ENSP00000483595.2:p.Arg664Gln
NM_001291415.1:c.1991G>A , LRG_616t1:c.1991G>A	NP_001278344.1:p.Arg664Gln
NM_001291416.1:c.1856G>A	NP_001278345.1:p.Arg619Gln
NM_001291416.2:c.1856G>A	NP_001278345.1:p.Arg619Gln
NM_001291417.1:c.1700G>A	NP_001278346.1:p.Arg567Gln
NM_001291417.2:c.1700G>A	NP_001278346.1:p.Arg567Gln
NM_001291418.1:c.1598G>A	NP_001278347.1:p.Arg533Gln
NM_001291418.2:c.1598G>A	NP_001278347.1:p.Arg533Gln
NM_001291421.1:c.947G>A	NP_001278350.1:p.Arg316Gln
NM_001291421.2:c.947G>A	NP_001278350.1:p.Arg316Gln
NM_021140.3:c.1835G>A	NP_066963.2:p.Arg612Gln
NM_021140.4:c.1835G>A	NP_066963.2:p.Arg612Gln
NR_111960.1:n.2131G>A
NR_111960.2:n.2118G>A
ENST00000377967.8:c.1835G>A	ENSP00000367203.4:p.Arg612Gln
ENST00000377967.9:c.1835G>A	ENSP00000367203.4:p.Arg612Gln
ENST00000382899.8:c.1784G>A	ENSP00000372355.5:p.Arg595Gln
ENST00000382899.9:c.1856G>A	ENSP00000372355.6:p.Arg619Gln
ENST00000414389.5:c.627G>A
ENST00000433797.5:c.762G>A
ENST00000536777.5:c.1628G>A	ENSP00000437405.2:p.Arg543Gln
ENST00000536777.6:c.1700G>A	ENSP00000437405.3:p.Arg567Gln
ENST00000543216.5:c.1682G>A	ENSP00000443078.2:p.Arg561Gln
ENST00000543216.6:c.1598G>A	ENSP00000443078.3:p.Arg533Gln
ENST00000611820.4:c.1919G>A	ENSP00000483595.1:p.Arg640Gln
ENST00000621147.4:c.1504G>A	ENSP00000478793.1:n.1504G>A
ENST00000621147.5:c.1504G>A	ENSP00000478793.1:n.1504G>A
ENST00000674541.1:c.*1123G>A	ENSP00000501919.1:n.*1123G>A
ENST00000674564.1:c.1754G>A	ENSP00000502150.1:p.Arg585Gln
ENST00000674586.1:c.1913G>A	ENSP00000502660.1:p.Arg638Gln
ENST00000674659.1:c.*1279G>A	ENSP00000502255.1:n.*1279G>A
ENST00000674739.1:n.2893G>A
ENST00000674867.1:c.1697G>A	ENSP00000502060.1:p.Arg566Gln
ENST00000675157.1:n.1442G>A
ENST00000675182.1:n.1875G>A
ENST00000675440.1:n.2011G>A
ENST00000675514.1:c.1835G>A	ENSP00000502759.1:p.Arg612Gln
ENST00000675525.1:n.3957G>A
ENST00000675546.1:n.2202G>A
ENST00000675577.1:c.1733G>A	ENSP00000501855.1:p.Arg578Gln
ENST00000675816.1:n.2011G>A
ENST00000676062.1:c.1856G>A	ENSP00000502311.1:p.Arg619Gln
ENST00000676085.1:c.*1021G>A	ENSP00000501752.1:n.*1021G>A
ENST00000676133.1:c.*1425G>A	ENSP00000502586.1:n.*1425G>A
ENST00000676343.1:c.1856G>A	ENSP00000501761.1:p.Arg619Gln
ENST00000676389.1:n.1815G>A
ENST00000682908.1:c.1735G>A	ENSP00000508158.1:n.1735G>A
ENST00000683021.1:c.1754G>A	ENSP00000507416.1:p.Arg585Gln
ENST00000683425.1:c.*1318G>A	ENSP00000507291.1:n.*1318G>A
ENST00000684352.1:c.1856G>A	ENSP00000508379.1:p.Arg619Gln
XM_005272656.3:c.1889G>A	XP_005272713.1:p.Arg630Gln
XM_005272656.5:c.1889G>A	XP_005272713.1:p.Arg630Gln
XM_005272659.3:c.1733G>A	XP_005272716.1:p.Arg578Gln
XM_005272659.5:c.1733G>A	XP_005272716.1:p.Arg578Gln
XM_011543957.1:c.2048G>A	XP_011542259.1:p.Arg683Gln
XM_011543958.1:c.1991G>A	XP_011542260.1:p.Arg664Gln
XM_011543958.3:c.1991G>A	XP_011542260.1:p.Arg664Gln
XM_011543959.1:c.1946G>A	XP_011542261.1:p.Arg649Gln
XM_011543960.1:c.2048G>A	XP_011542262.1:p.Arg683Gln
XM_011543961.1:c.1913G>A	XP_011542263.1:p.Arg638Gln
XM_011543962.1:c.1892G>A	XP_011542264.1:p.Arg631Gln
XM_011543963.1:c.1856G>A	XP_011542265.1:p.Arg619Gln
XM_011543963.3:c.1856G>A	XP_011542265.1:p.Arg619Gln
XM_011543964.1:c.1835G>A	XP_011542266.1:p.Arg612Gln
XM_011543964.3:c.1835G>A	XP_011542266.1:p.Arg612Gln
XM_011543965.1:c.1811G>A	XP_011542267.1:p.Arg604Gln
XM_011543966.1:c.1790G>A	XP_011542268.1:p.Arg597Gln
XM_011543967.1:c.1892G>A	XP_011542269.1:p.Arg631Gln
XM_011543968.1:c.1757G>A	XP_011542270.1:p.Arg586Gln
XM_011543969.1:c.1754G>A	XP_011542271.1:p.Arg585Gln
XM_011543969.3:c.1754G>A	XP_011542271.1:p.Arg585Gln
XM_011543970.1:c.1733G>A	XP_011542272.1:p.Arg578Gln
XM_011543970.3:c.1733G>A	XP_011542272.1:p.Arg578Gln
XM_011543971.1:c.1811G>A	XP_011542273.1:p.Arg604Gln
XM_011543972.1:c.1700G>A	XP_011542274.1:p.Arg567Gln
XM_011543972.3:c.1700G>A	XP_011542274.1:p.Arg567Gln
XM_011543973.1:c.1757G>A	XP_011542275.1:p.Arg586Gln
XM_011543974.1:c.1835G>A	XP_011542276.1:p.Arg612Gln
XM_011543974.2:c.1835G>A	XP_011542276.1:p.Arg612Gln
XM_011543975.1:c.1238G>A	XP_011542277.1:p.Arg413Gln
XM_011543975.2:c.1238G>A	XP_011542277.1:p.Arg413Gln
XM_011543976.1:c.2048G>A	XP_011542278.1:p.Arg683Gln
XM_017029783.2:c.1754G>A	XP_016885272.1:p.Arg585Gln
XM_017029784.1:c.1103G>A	XP_016885273.1:p.Arg368Gln
XM_017029785.1:c.845G>A	XP_016885274.1:p.Arg282Gln
XM_024452438.1:c.1889G>A	XP_024308206.1:p.Arg630Gln
XM_024452439.1:c.1466G>A	XP_024308207.1:p.Arg489Gln
XR_002958804.1:n.2361G>A
XR_949018.1:n.2425G>A