Canonical Allele Identifier: CA10392440

Gene: KDM6A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45063690C>T , CM000685.2:g.45063690C>T	GRCh38
NC_000023.10:g.44922935C>T , CM000685.1:g.44922935C>T	GRCh37
NC_000023.9:g.44807879C>T	NCBI36
NG_016260.1:g.195513C>T , LRG_616:g.195513C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001291415.2:c.1952C>T MANE Select	NP_001278344.1:p.Thr651Ile
ENST00000611820.5:c.1952C>T MANE Select	ENSP00000483595.2:p.Thr651Ile
NM_001291415.1:c.1952C>T , LRG_616t1:c.1952C>T	NP_001278344.1:p.Thr651Ile
NM_001291416.1:c.1817C>T	NP_001278345.1:p.Thr606Ile
NM_001291416.2:c.1817C>T	NP_001278345.1:p.Thr606Ile
NM_001291417.1:c.1661C>T	NP_001278346.1:p.Thr554Ile
NM_001291417.2:c.1661C>T	NP_001278346.1:p.Thr554Ile
NM_001291418.1:c.1559C>T	NP_001278347.1:p.Thr520Ile
NM_001291418.2:c.1559C>T	NP_001278347.1:p.Thr520Ile
NM_001291421.1:c.908C>T	NP_001278350.1:p.Thr303Ile
NM_001291421.2:c.908C>T	NP_001278350.1:p.Thr303Ile
NM_021140.3:c.1796C>T	NP_066963.2:p.Thr599Ile
NM_021140.4:c.1796C>T	NP_066963.2:p.Thr599Ile
NR_111960.1:n.2092C>T
NR_111960.2:n.2079C>T
ENST00000377967.8:c.1796C>T	ENSP00000367203.4:p.Thr599Ile
ENST00000377967.9:c.1796C>T	ENSP00000367203.4:p.Thr599Ile
ENST00000382899.8:c.1745C>T	ENSP00000372355.5:p.Thr582Ile
ENST00000382899.9:c.1817C>T	ENSP00000372355.6:p.Thr606Ile
ENST00000414389.5:c.588C>T
ENST00000433797.5:c.723C>T
ENST00000536777.5:c.1589C>T	ENSP00000437405.2:p.Thr530Ile
ENST00000536777.6:c.1661C>T	ENSP00000437405.3:p.Thr554Ile
ENST00000543216.5:c.1643C>T	ENSP00000443078.2:p.Thr548Ile
ENST00000543216.6:c.1559C>T	ENSP00000443078.3:p.Thr520Ile
ENST00000611820.4:c.1880C>T	ENSP00000483595.1:p.Thr627Ile
ENST00000621147.4:c.1465C>T	ENSP00000478793.1:n.1465C>T
ENST00000621147.5:c.1465C>T	ENSP00000478793.1:n.1465C>T
ENST00000674541.1:c.*1084C>T	ENSP00000501919.1:n.*1084C>T
ENST00000674564.1:c.1715C>T	ENSP00000502150.1:p.Thr572Ile
ENST00000674586.1:c.1874C>T	ENSP00000502660.1:p.Thr625Ile
ENST00000674659.1:c.*1240C>T	ENSP00000502255.1:n.*1240C>T
ENST00000674739.1:n.2854C>T
ENST00000674867.1:c.1658C>T	ENSP00000502060.1:p.Thr553Ile
ENST00000675157.1:n.1403C>T
ENST00000675182.1:n.1836C>T
ENST00000675440.1:n.1972C>T
ENST00000675514.1:c.1796C>T	ENSP00000502759.1:p.Thr599Ile
ENST00000675525.1:n.3918C>T
ENST00000675546.1:n.2163C>T
ENST00000675577.1:c.1694C>T	ENSP00000501855.1:p.Thr565Ile
ENST00000675816.1:n.1972C>T
ENST00000676062.1:c.1817C>T	ENSP00000502311.1:p.Thr606Ile
ENST00000676085.1:c.*982C>T	ENSP00000501752.1:n.*982C>T
ENST00000676133.1:c.*1386C>T	ENSP00000502586.1:n.*1386C>T
ENST00000676343.1:c.1817C>T	ENSP00000501761.1:p.Thr606Ile
ENST00000676389.1:n.1776C>T
ENST00000682908.1:c.1696C>T	ENSP00000508158.1:n.1696C>T
ENST00000683021.1:c.1715C>T	ENSP00000507416.1:p.Thr572Ile
ENST00000683425.1:c.*1279C>T	ENSP00000507291.1:n.*1279C>T
ENST00000684352.1:c.1817C>T	ENSP00000508379.1:p.Thr606Ile
XM_005272656.3:c.1850C>T	XP_005272713.1:p.Thr617Ile
XM_005272656.5:c.1850C>T	XP_005272713.1:p.Thr617Ile
XM_005272659.3:c.1694C>T	XP_005272716.1:p.Thr565Ile
XM_005272659.5:c.1694C>T	XP_005272716.1:p.Thr565Ile
XM_011543957.1:c.2009C>T	XP_011542259.1:p.Thr670Ile
XM_011543958.1:c.1952C>T	XP_011542260.1:p.Thr651Ile
XM_011543958.3:c.1952C>T	XP_011542260.1:p.Thr651Ile
XM_011543959.1:c.1907C>T	XP_011542261.1:p.Thr636Ile
XM_011543960.1:c.2009C>T	XP_011542262.1:p.Thr670Ile
XM_011543961.1:c.1874C>T	XP_011542263.1:p.Thr625Ile
XM_011543962.1:c.1853C>T	XP_011542264.1:p.Thr618Ile
XM_011543963.1:c.1817C>T	XP_011542265.1:p.Thr606Ile
XM_011543963.3:c.1817C>T	XP_011542265.1:p.Thr606Ile
XM_011543964.1:c.1796C>T	XP_011542266.1:p.Thr599Ile
XM_011543964.3:c.1796C>T	XP_011542266.1:p.Thr599Ile
XM_011543965.1:c.1772C>T	XP_011542267.1:p.Thr591Ile
XM_011543966.1:c.1751C>T	XP_011542268.1:p.Thr584Ile
XM_011543967.1:c.1853C>T	XP_011542269.1:p.Thr618Ile
XM_011543968.1:c.1718C>T	XP_011542270.1:p.Thr573Ile
XM_011543969.1:c.1715C>T	XP_011542271.1:p.Thr572Ile
XM_011543969.3:c.1715C>T	XP_011542271.1:p.Thr572Ile
XM_011543970.1:c.1694C>T	XP_011542272.1:p.Thr565Ile
XM_011543970.3:c.1694C>T	XP_011542272.1:p.Thr565Ile
XM_011543971.1:c.1772C>T	XP_011542273.1:p.Thr591Ile
XM_011543972.1:c.1661C>T	XP_011542274.1:p.Thr554Ile
XM_011543972.3:c.1661C>T	XP_011542274.1:p.Thr554Ile
XM_011543973.1:c.1718C>T	XP_011542275.1:p.Thr573Ile
XM_011543974.1:c.1796C>T	XP_011542276.1:p.Thr599Ile
XM_011543974.2:c.1796C>T	XP_011542276.1:p.Thr599Ile
XM_011543975.1:c.1199C>T	XP_011542277.1:p.Thr400Ile
XM_011543975.2:c.1199C>T	XP_011542277.1:p.Thr400Ile
XM_011543976.1:c.2009C>T	XP_011542278.1:p.Thr670Ile
XM_017029783.2:c.1715C>T	XP_016885272.1:p.Thr572Ile
XM_017029784.1:c.1064C>T	XP_016885273.1:p.Thr355Ile
XM_017029785.1:c.806C>T	XP_016885274.1:p.Thr269Ile
XM_024452438.1:c.1850C>T	XP_024308206.1:p.Thr617Ile
XM_024452439.1:c.1427C>T	XP_024308207.1:p.Thr476Ile
XR_002958804.1:n.2322C>T
XR_949018.1:n.2386C>T