Canonical Allele Identifier: CA412794608

Gene: KDM6A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45069990C>T , CM000685.2:g.45069990C>T	GRCh38
NC_000023.10:g.44929235C>T , CM000685.1:g.44929235C>T	GRCh37
NC_000023.9:g.44814179C>T	NCBI36
NG_016260.1:g.201813C>T , LRG_616:g.201813C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001291415.2:c.2491C>T MANE Select	NP_001278344.1:p.Gln831Ter
ENST00000611820.5:c.2491C>T MANE Select	ENSP00000483595.2:p.Gln831Ter
NM_001291415.1:c.2491C>T , LRG_616t1:c.2491C>T	NP_001278344.1:p.Gln831Ter
NM_001291416.1:c.2356C>T	NP_001278345.1:p.Gln786Ter
NM_001291416.2:c.2356C>T	NP_001278345.1:p.Gln786Ter
NM_001291417.1:c.2200C>T	NP_001278346.1:p.Gln734Ter
NM_001291417.2:c.2200C>T	NP_001278346.1:p.Gln734Ter
NM_001291418.1:c.2098C>T	NP_001278347.1:p.Gln700Ter
NM_001291418.2:c.2098C>T	NP_001278347.1:p.Gln700Ter
NM_001291421.1:c.1447C>T	NP_001278350.1:p.Gln483Ter
NM_001291421.2:c.1447C>T	NP_001278350.1:p.Gln483Ter
NM_021140.3:c.2335C>T	NP_066963.2:p.Gln779Ter
NM_021140.4:c.2335C>T	NP_066963.2:p.Gln779Ter
NR_111960.1:n.2631C>T
NR_111960.2:n.2618C>T
ENST00000377967.8:c.2335C>T	ENSP00000367203.4:p.Gln779Ter
ENST00000377967.9:c.2335C>T	ENSP00000367203.4:p.Gln779Ter
ENST00000382899.8:c.2284C>T	ENSP00000372355.5:p.Gln762Ter
ENST00000382899.9:c.2356C>T	ENSP00000372355.6:p.Gln786Ter
ENST00000414389.5:c.1127C>T
ENST00000433797.5:c.1262C>T
ENST00000536777.5:c.2128C>T	ENSP00000437405.2:p.Gln710Ter
ENST00000536777.6:c.2200C>T	ENSP00000437405.3:p.Gln734Ter
ENST00000543216.5:c.2182C>T	ENSP00000443078.2:p.Gln728Ter
ENST00000543216.6:c.2098C>T	ENSP00000443078.3:p.Gln700Ter
ENST00000611820.4:c.2419C>T	ENSP00000483595.1:p.Gln807Ter
ENST00000621147.4:c.2004C>T	ENSP00000478793.1:n.2004C>T
ENST00000621147.5:c.2004C>T	ENSP00000478793.1:n.2004C>T
ENST00000674541.1:c.*1623C>T	ENSP00000501919.1:n.*1623C>T
ENST00000674564.1:c.2254C>T	ENSP00000502150.1:p.Gln752Ter
ENST00000674586.1:c.2413C>T	ENSP00000502660.1:p.Gln805Ter
ENST00000674659.1:c.*1779C>T	ENSP00000502255.1:n.*1779C>T
ENST00000674739.1:n.3393C>T
ENST00000674867.1:c.2197C>T	ENSP00000502060.1:p.Gln733Ter
ENST00000675157.1:n.1942C>T
ENST00000675182.1:n.2375C>T
ENST00000675440.1:n.2511C>T
ENST00000675514.1:c.2335C>T	ENSP00000502759.1:p.Gln779Ter
ENST00000675525.1:n.4457C>T
ENST00000675546.1:n.2702C>T
ENST00000675577.1:c.2233C>T	ENSP00000501855.1:p.Gln745Ter
ENST00000675816.1:n.2511C>T
ENST00000676062.1:c.2356C>T	ENSP00000502311.1:p.Gln786Ter
ENST00000676085.1:c.*1521C>T	ENSP00000501752.1:n.*1521C>T
ENST00000676133.1:c.*2388C>T	ENSP00000502586.1:n.*2388C>T
ENST00000676343.1:c.2356C>T	ENSP00000501761.1:p.Gln786Ter
ENST00000676389.1:n.2778C>T
ENST00000682908.1:c.2235C>T	ENSP00000508158.1:n.2235C>T
ENST00000683021.1:c.2254C>T	ENSP00000507416.1:p.Gln752Ter
ENST00000683425.1:c.*1818C>T	ENSP00000507291.1:n.*1818C>T
ENST00000684352.1:c.2356C>T	ENSP00000508379.1:p.Gln786Ter
XM_005272656.3:c.2389C>T	XP_005272713.1:p.Gln797Ter
XM_005272656.5:c.2389C>T	XP_005272713.1:p.Gln797Ter
XM_005272659.3:c.2233C>T	XP_005272716.1:p.Gln745Ter
XM_005272659.5:c.2233C>T	XP_005272716.1:p.Gln745Ter
XM_011543957.1:c.2548C>T	XP_011542259.1:p.Gln850Ter
XM_011543958.1:c.2491C>T	XP_011542260.1:p.Gln831Ter
XM_011543958.3:c.2491C>T	XP_011542260.1:p.Gln831Ter
XM_011543959.1:c.2446C>T	XP_011542261.1:p.Gln816Ter
XM_011543960.1:c.2548C>T	XP_011542262.1:p.Gln850Ter
XM_011543961.1:c.2413C>T	XP_011542263.1:p.Gln805Ter
XM_011543962.1:c.2392C>T	XP_011542264.1:p.Gln798Ter
XM_011543963.1:c.2356C>T	XP_011542265.1:p.Gln786Ter
XM_011543963.3:c.2356C>T	XP_011542265.1:p.Gln786Ter
XM_011543964.1:c.2335C>T	XP_011542266.1:p.Gln779Ter
XM_011543964.3:c.2335C>T	XP_011542266.1:p.Gln779Ter
XM_011543965.1:c.2311C>T	XP_011542267.1:p.Gln771Ter
XM_011543966.1:c.2290C>T	XP_011542268.1:p.Gln764Ter
XM_011543967.1:c.2392C>T	XP_011542269.1:p.Gln798Ter
XM_011543968.1:c.2257C>T	XP_011542270.1:p.Gln753Ter
XM_011543969.1:c.2254C>T	XP_011542271.1:p.Gln752Ter
XM_011543969.3:c.2254C>T	XP_011542271.1:p.Gln752Ter
XM_011543970.1:c.2233C>T	XP_011542272.1:p.Gln745Ter
XM_011543970.3:c.2233C>T	XP_011542272.1:p.Gln745Ter
XM_011543971.1:c.2311C>T	XP_011542273.1:p.Gln771Ter
XM_011543972.1:c.2200C>T	XP_011542274.1:p.Gln734Ter
XM_011543972.3:c.2200C>T	XP_011542274.1:p.Gln734Ter
XM_011543973.1:c.2257C>T	XP_011542275.1:p.Gln753Ter
XM_011543974.1:c.2335C>T	XP_011542276.1:p.Gln779Ter
XM_011543974.2:c.2335C>T	XP_011542276.1:p.Gln779Ter
XM_011543975.1:c.1738C>T	XP_011542277.1:p.Gln580Ter
XM_011543975.2:c.1738C>T	XP_011542277.1:p.Gln580Ter
XM_011543976.1:c.2548C>T	XP_011542278.1:p.Gln850Ter
XM_017029783.2:c.2254C>T	XP_016885272.1:p.Gln752Ter
XM_017029784.1:c.1603C>T	XP_016885273.1:p.Gln535Ter
XM_017029785.1:c.1345C>T	XP_016885274.1:p.Gln449Ter
XM_024452438.1:c.2389C>T	XP_024308206.1:p.Gln797Ter
XM_024452439.1:c.1966C>T	XP_024308207.1:p.Gln656Ter
XR_002958804.1:n.2861C>T
XR_949018.1:n.2925C>T