Canonical Allele Identifier: CA10392447

Gene: KDM6A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45063756G>A , CM000685.2:g.45063756G>A	GRCh38
NC_000023.10:g.44923001G>A , CM000685.1:g.44923001G>A	GRCh37
NC_000023.9:g.44807945G>A	NCBI36
NG_016260.1:g.195579G>A , LRG_616:g.195579G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001291415.2:c.2018G>A MANE Select	NP_001278344.1:p.Arg673His
ENST00000611820.5:c.2018G>A MANE Select	ENSP00000483595.2:p.Arg673His
NM_001291415.1:c.2018G>A , LRG_616t1:c.2018G>A	NP_001278344.1:p.Arg673His
NM_001291416.1:c.1883G>A	NP_001278345.1:p.Arg628His
NM_001291416.2:c.1883G>A	NP_001278345.1:p.Arg628His
NM_001291417.1:c.1727G>A	NP_001278346.1:p.Arg576His
NM_001291417.2:c.1727G>A	NP_001278346.1:p.Arg576His
NM_001291418.1:c.1625G>A	NP_001278347.1:p.Arg542His
NM_001291418.2:c.1625G>A	NP_001278347.1:p.Arg542His
NM_001291421.1:c.974G>A	NP_001278350.1:p.Arg325His
NM_001291421.2:c.974G>A	NP_001278350.1:p.Arg325His
NM_021140.3:c.1862G>A	NP_066963.2:p.Arg621His
NM_021140.4:c.1862G>A	NP_066963.2:p.Arg621His
NR_111960.1:n.2158G>A
NR_111960.2:n.2145G>A
ENST00000377967.8:c.1862G>A	ENSP00000367203.4:p.Arg621His
ENST00000377967.9:c.1862G>A	ENSP00000367203.4:p.Arg621His
ENST00000382899.8:c.1811G>A	ENSP00000372355.5:p.Arg604His
ENST00000382899.9:c.1883G>A	ENSP00000372355.6:p.Arg628His
ENST00000414389.5:c.654G>A
ENST00000433797.5:c.789G>A
ENST00000536777.5:c.1655G>A	ENSP00000437405.2:p.Arg552His
ENST00000536777.6:c.1727G>A	ENSP00000437405.3:p.Arg576His
ENST00000543216.5:c.1709G>A	ENSP00000443078.2:p.Arg570His
ENST00000543216.6:c.1625G>A	ENSP00000443078.3:p.Arg542His
ENST00000611820.4:c.1946G>A	ENSP00000483595.1:p.Arg649His
ENST00000621147.4:c.1531G>A	ENSP00000478793.1:n.1531G>A
ENST00000621147.5:c.1531G>A	ENSP00000478793.1:n.1531G>A
ENST00000674541.1:c.*1150G>A	ENSP00000501919.1:n.*1150G>A
ENST00000674564.1:c.1781G>A	ENSP00000502150.1:p.Arg594His
ENST00000674586.1:c.1940G>A	ENSP00000502660.1:p.Arg647His
ENST00000674659.1:c.*1306G>A	ENSP00000502255.1:n.*1306G>A
ENST00000674739.1:n.2920G>A
ENST00000674867.1:c.1724G>A	ENSP00000502060.1:p.Arg575His
ENST00000675157.1:n.1469G>A
ENST00000675182.1:n.1902G>A
ENST00000675440.1:n.2038G>A
ENST00000675514.1:c.1862G>A	ENSP00000502759.1:p.Arg621His
ENST00000675525.1:n.3984G>A
ENST00000675546.1:n.2229G>A
ENST00000675577.1:c.1760G>A	ENSP00000501855.1:p.Arg587His
ENST00000675816.1:n.2038G>A
ENST00000676062.1:c.1883G>A	ENSP00000502311.1:p.Arg628His
ENST00000676085.1:c.*1048G>A	ENSP00000501752.1:n.*1048G>A
ENST00000676133.1:c.*1452G>A	ENSP00000502586.1:n.*1452G>A
ENST00000676343.1:c.1883G>A	ENSP00000501761.1:p.Arg628His
ENST00000676389.1:n.1842G>A
ENST00000682908.1:c.1762G>A	ENSP00000508158.1:n.1762G>A
ENST00000683021.1:c.1781G>A	ENSP00000507416.1:p.Arg594His
ENST00000683425.1:c.*1345G>A	ENSP00000507291.1:n.*1345G>A
ENST00000684352.1:c.1883G>A	ENSP00000508379.1:p.Arg628His
XM_005272656.3:c.1916G>A	XP_005272713.1:p.Arg639His
XM_005272656.5:c.1916G>A	XP_005272713.1:p.Arg639His
XM_005272659.3:c.1760G>A	XP_005272716.1:p.Arg587His
XM_005272659.5:c.1760G>A	XP_005272716.1:p.Arg587His
XM_011543957.1:c.2075G>A	XP_011542259.1:p.Arg692His
XM_011543958.1:c.2018G>A	XP_011542260.1:p.Arg673His
XM_011543958.3:c.2018G>A	XP_011542260.1:p.Arg673His
XM_011543959.1:c.1973G>A	XP_011542261.1:p.Arg658His
XM_011543960.1:c.2075G>A	XP_011542262.1:p.Arg692His
XM_011543961.1:c.1940G>A	XP_011542263.1:p.Arg647His
XM_011543962.1:c.1919G>A	XP_011542264.1:p.Arg640His
XM_011543963.1:c.1883G>A	XP_011542265.1:p.Arg628His
XM_011543963.3:c.1883G>A	XP_011542265.1:p.Arg628His
XM_011543964.1:c.1862G>A	XP_011542266.1:p.Arg621His
XM_011543964.3:c.1862G>A	XP_011542266.1:p.Arg621His
XM_011543965.1:c.1838G>A	XP_011542267.1:p.Arg613His
XM_011543966.1:c.1817G>A	XP_011542268.1:p.Arg606His
XM_011543967.1:c.1919G>A	XP_011542269.1:p.Arg640His
XM_011543968.1:c.1784G>A	XP_011542270.1:p.Arg595His
XM_011543969.1:c.1781G>A	XP_011542271.1:p.Arg594His
XM_011543969.3:c.1781G>A	XP_011542271.1:p.Arg594His
XM_011543970.1:c.1760G>A	XP_011542272.1:p.Arg587His
XM_011543970.3:c.1760G>A	XP_011542272.1:p.Arg587His
XM_011543971.1:c.1838G>A	XP_011542273.1:p.Arg613His
XM_011543972.1:c.1727G>A	XP_011542274.1:p.Arg576His
XM_011543972.3:c.1727G>A	XP_011542274.1:p.Arg576His
XM_011543973.1:c.1784G>A	XP_011542275.1:p.Arg595His
XM_011543974.1:c.1862G>A	XP_011542276.1:p.Arg621His
XM_011543974.2:c.1862G>A	XP_011542276.1:p.Arg621His
XM_011543975.1:c.1265G>A	XP_011542277.1:p.Arg422His
XM_011543975.2:c.1265G>A	XP_011542277.1:p.Arg422His
XM_011543976.1:c.2075G>A	XP_011542278.1:p.Arg692His
XM_017029783.2:c.1781G>A	XP_016885272.1:p.Arg594His
XM_017029784.1:c.1130G>A	XP_016885273.1:p.Arg377His
XM_017029785.1:c.872G>A	XP_016885274.1:p.Arg291His
XM_024452438.1:c.1916G>A	XP_024308206.1:p.Arg639His
XM_024452439.1:c.1493G>A	XP_024308207.1:p.Arg498His
XR_002958804.1:n.2388G>A
XR_949018.1:n.2452G>A