Canonical Allele Identifier: CA10392451

Gene: KDM6A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45063776G>A , CM000685.2:g.45063776G>A	GRCh38
NC_000023.10:g.44923021G>A , CM000685.1:g.44923021G>A	GRCh37
NC_000023.9:g.44807965G>A	NCBI36
NG_016260.1:g.195599G>A , LRG_616:g.195599G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001291415.2:c.2038G>A MANE Select	NP_001278344.1:p.Ala680Thr
ENST00000611820.5:c.2038G>A MANE Select	ENSP00000483595.2:p.Ala680Thr
NM_001291415.1:c.2038G>A , LRG_616t1:c.2038G>A	NP_001278344.1:p.Ala680Thr
NM_001291416.1:c.1903G>A	NP_001278345.1:p.Ala635Thr
NM_001291416.2:c.1903G>A	NP_001278345.1:p.Ala635Thr
NM_001291417.1:c.1747G>A	NP_001278346.1:p.Ala583Thr
NM_001291417.2:c.1747G>A	NP_001278346.1:p.Ala583Thr
NM_001291418.1:c.1645G>A	NP_001278347.1:p.Ala549Thr
NM_001291418.2:c.1645G>A	NP_001278347.1:p.Ala549Thr
NM_001291421.1:c.994G>A	NP_001278350.1:p.Ala332Thr
NM_001291421.2:c.994G>A	NP_001278350.1:p.Ala332Thr
NM_021140.3:c.1882G>A	NP_066963.2:p.Ala628Thr
NM_021140.4:c.1882G>A	NP_066963.2:p.Ala628Thr
NR_111960.1:n.2178G>A
NR_111960.2:n.2165G>A
ENST00000377967.8:c.1882G>A	ENSP00000367203.4:p.Ala628Thr
ENST00000377967.9:c.1882G>A	ENSP00000367203.4:p.Ala628Thr
ENST00000382899.8:c.1831G>A	ENSP00000372355.5:p.Ala611Thr
ENST00000382899.9:c.1903G>A	ENSP00000372355.6:p.Ala635Thr
ENST00000414389.5:c.674G>A
ENST00000433797.5:c.809G>A
ENST00000536777.5:c.1675G>A	ENSP00000437405.2:p.Ala559Thr
ENST00000536777.6:c.1747G>A	ENSP00000437405.3:p.Ala583Thr
ENST00000543216.5:c.1729G>A	ENSP00000443078.2:p.Ala577Thr
ENST00000543216.6:c.1645G>A	ENSP00000443078.3:p.Ala549Thr
ENST00000611820.4:c.1966G>A	ENSP00000483595.1:p.Ala656Thr
ENST00000621147.4:c.1551G>A	ENSP00000478793.1:n.1551G>A
ENST00000621147.5:c.1551G>A	ENSP00000478793.1:n.1551G>A
ENST00000674541.1:c.*1170G>A	ENSP00000501919.1:n.*1170G>A
ENST00000674564.1:c.1801G>A	ENSP00000502150.1:p.Ala601Thr
ENST00000674586.1:c.1960G>A	ENSP00000502660.1:p.Ala654Thr
ENST00000674659.1:c.*1326G>A	ENSP00000502255.1:n.*1326G>A
ENST00000674739.1:n.2940G>A
ENST00000674867.1:c.1744G>A	ENSP00000502060.1:p.Ala582Thr
ENST00000675157.1:n.1489G>A
ENST00000675182.1:n.1922G>A
ENST00000675440.1:n.2058G>A
ENST00000675514.1:c.1882G>A	ENSP00000502759.1:p.Ala628Thr
ENST00000675525.1:n.4004G>A
ENST00000675546.1:n.2249G>A
ENST00000675577.1:c.1780G>A	ENSP00000501855.1:p.Ala594Thr
ENST00000675816.1:n.2058G>A
ENST00000676062.1:c.1903G>A	ENSP00000502311.1:p.Ala635Thr
ENST00000676085.1:c.*1068G>A	ENSP00000501752.1:n.*1068G>A
ENST00000676133.1:c.*1472G>A	ENSP00000502586.1:n.*1472G>A
ENST00000676343.1:c.1903G>A	ENSP00000501761.1:p.Ala635Thr
ENST00000676389.1:n.1862G>A
ENST00000682908.1:c.1782G>A	ENSP00000508158.1:n.1782G>A
ENST00000683021.1:c.1801G>A	ENSP00000507416.1:p.Ala601Thr
ENST00000683425.1:c.*1365G>A	ENSP00000507291.1:n.*1365G>A
ENST00000684352.1:c.1903G>A	ENSP00000508379.1:p.Ala635Thr
XM_005272656.3:c.1936G>A	XP_005272713.1:p.Ala646Thr
XM_005272656.5:c.1936G>A	XP_005272713.1:p.Ala646Thr
XM_005272659.3:c.1780G>A	XP_005272716.1:p.Ala594Thr
XM_005272659.5:c.1780G>A	XP_005272716.1:p.Ala594Thr
XM_011543957.1:c.2095G>A	XP_011542259.1:p.Ala699Thr
XM_011543958.1:c.2038G>A	XP_011542260.1:p.Ala680Thr
XM_011543958.3:c.2038G>A	XP_011542260.1:p.Ala680Thr
XM_011543959.1:c.1993G>A	XP_011542261.1:p.Ala665Thr
XM_011543960.1:c.2095G>A	XP_011542262.1:p.Ala699Thr
XM_011543961.1:c.1960G>A	XP_011542263.1:p.Ala654Thr
XM_011543962.1:c.1939G>A	XP_011542264.1:p.Ala647Thr
XM_011543963.1:c.1903G>A	XP_011542265.1:p.Ala635Thr
XM_011543963.3:c.1903G>A	XP_011542265.1:p.Ala635Thr
XM_011543964.1:c.1882G>A	XP_011542266.1:p.Ala628Thr
XM_011543964.3:c.1882G>A	XP_011542266.1:p.Ala628Thr
XM_011543965.1:c.1858G>A	XP_011542267.1:p.Ala620Thr
XM_011543966.1:c.1837G>A	XP_011542268.1:p.Ala613Thr
XM_011543967.1:c.1939G>A	XP_011542269.1:p.Ala647Thr
XM_011543968.1:c.1804G>A	XP_011542270.1:p.Ala602Thr
XM_011543969.1:c.1801G>A	XP_011542271.1:p.Ala601Thr
XM_011543969.3:c.1801G>A	XP_011542271.1:p.Ala601Thr
XM_011543970.1:c.1780G>A	XP_011542272.1:p.Ala594Thr
XM_011543970.3:c.1780G>A	XP_011542272.1:p.Ala594Thr
XM_011543971.1:c.1858G>A	XP_011542273.1:p.Ala620Thr
XM_011543972.1:c.1747G>A	XP_011542274.1:p.Ala583Thr
XM_011543972.3:c.1747G>A	XP_011542274.1:p.Ala583Thr
XM_011543973.1:c.1804G>A	XP_011542275.1:p.Ala602Thr
XM_011543974.1:c.1882G>A	XP_011542276.1:p.Ala628Thr
XM_011543974.2:c.1882G>A	XP_011542276.1:p.Ala628Thr
XM_011543975.1:c.1285G>A	XP_011542277.1:p.Ala429Thr
XM_011543975.2:c.1285G>A	XP_011542277.1:p.Ala429Thr
XM_011543976.1:c.2095G>A	XP_011542278.1:p.Ala699Thr
XM_017029783.2:c.1801G>A	XP_016885272.1:p.Ala601Thr
XM_017029784.1:c.1150G>A	XP_016885273.1:p.Ala384Thr
XM_017029785.1:c.892G>A	XP_016885274.1:p.Ala298Thr
XM_024452438.1:c.1936G>A	XP_024308206.1:p.Ala646Thr
XM_024452439.1:c.1513G>A	XP_024308207.1:p.Ala505Thr
XR_002958804.1:n.2408G>A
XR_949018.1:n.2472G>A