Canonical Allele Identifier: CA412794069

Gene: KDM6A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45069904A>T , CM000685.2:g.45069904A>T	GRCh38
NC_000023.10:g.44929149A>T , CM000685.1:g.44929149A>T	GRCh37
NC_000023.9:g.44814093A>T	NCBI36
NG_016260.1:g.201727A>T , LRG_616:g.201727A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001291415.2:c.2405A>T MANE Select	NP_001278344.1:p.His802Leu
ENST00000611820.5:c.2405A>T MANE Select	ENSP00000483595.2:p.His802Leu
NM_001291415.1:c.2405A>T , LRG_616t1:c.2405A>T	NP_001278344.1:p.His802Leu
NM_001291416.1:c.2270A>T	NP_001278345.1:p.His757Leu
NM_001291416.2:c.2270A>T	NP_001278345.1:p.His757Leu
NM_001291417.1:c.2114A>T	NP_001278346.1:p.His705Leu
NM_001291417.2:c.2114A>T	NP_001278346.1:p.His705Leu
NM_001291418.1:c.2012A>T	NP_001278347.1:p.His671Leu
NM_001291418.2:c.2012A>T	NP_001278347.1:p.His671Leu
NM_001291421.1:c.1361A>T	NP_001278350.1:p.His454Leu
NM_001291421.2:c.1361A>T	NP_001278350.1:p.His454Leu
NM_021140.3:c.2249A>T	NP_066963.2:p.His750Leu
NM_021140.4:c.2249A>T	NP_066963.2:p.His750Leu
NR_111960.1:n.2545A>T
NR_111960.2:n.2532A>T
ENST00000377967.8:c.2249A>T	ENSP00000367203.4:p.His750Leu
ENST00000377967.9:c.2249A>T	ENSP00000367203.4:p.His750Leu
ENST00000382899.8:c.2198A>T	ENSP00000372355.5:p.His733Leu
ENST00000382899.9:c.2270A>T	ENSP00000372355.6:p.His757Leu
ENST00000414389.5:c.1041A>T
ENST00000433797.5:c.1176A>T
ENST00000536777.5:c.2042A>T	ENSP00000437405.2:p.His681Leu
ENST00000536777.6:c.2114A>T	ENSP00000437405.3:p.His705Leu
ENST00000543216.5:c.2096A>T	ENSP00000443078.2:p.His699Leu
ENST00000543216.6:c.2012A>T	ENSP00000443078.3:p.His671Leu
ENST00000611820.4:c.2333A>T	ENSP00000483595.1:p.His778Leu
ENST00000621147.4:c.1918A>T	ENSP00000478793.1:n.1918A>T
ENST00000621147.5:c.1918A>T	ENSP00000478793.1:n.1918A>T
ENST00000674541.1:c.*1537A>T	ENSP00000501919.1:n.*1537A>T
ENST00000674564.1:c.2168A>T	ENSP00000502150.1:p.His723Leu
ENST00000674586.1:c.2327A>T	ENSP00000502660.1:p.His776Leu
ENST00000674659.1:c.*1693A>T	ENSP00000502255.1:n.*1693A>T
ENST00000674739.1:n.3307A>T
ENST00000674867.1:c.2111A>T	ENSP00000502060.1:p.His704Leu
ENST00000675157.1:n.1856A>T
ENST00000675182.1:n.2289A>T
ENST00000675440.1:n.2425A>T
ENST00000675514.1:c.2249A>T	ENSP00000502759.1:p.His750Leu
ENST00000675525.1:n.4371A>T
ENST00000675546.1:n.2616A>T
ENST00000675577.1:c.2147A>T	ENSP00000501855.1:p.His716Leu
ENST00000675816.1:n.2425A>T
ENST00000676062.1:c.2270A>T	ENSP00000502311.1:p.His757Leu
ENST00000676085.1:c.*1435A>T	ENSP00000501752.1:n.*1435A>T
ENST00000676133.1:c.*2302A>T	ENSP00000502586.1:n.*2302A>T
ENST00000676343.1:c.2270A>T	ENSP00000501761.1:p.His757Leu
ENST00000676389.1:n.2692A>T
ENST00000682908.1:c.2149A>T	ENSP00000508158.1:n.2149A>T
ENST00000683021.1:c.2168A>T	ENSP00000507416.1:p.His723Leu
ENST00000683425.1:c.*1732A>T	ENSP00000507291.1:n.*1732A>T
ENST00000684352.1:c.2270A>T	ENSP00000508379.1:p.His757Leu
XM_005272656.3:c.2303A>T	XP_005272713.1:p.His768Leu
XM_005272656.5:c.2303A>T	XP_005272713.1:p.His768Leu
XM_005272659.3:c.2147A>T	XP_005272716.1:p.His716Leu
XM_005272659.5:c.2147A>T	XP_005272716.1:p.His716Leu
XM_011543957.1:c.2462A>T	XP_011542259.1:p.His821Leu
XM_011543958.1:c.2405A>T	XP_011542260.1:p.His802Leu
XM_011543958.3:c.2405A>T	XP_011542260.1:p.His802Leu
XM_011543959.1:c.2360A>T	XP_011542261.1:p.His787Leu
XM_011543960.1:c.2462A>T	XP_011542262.1:p.His821Leu
XM_011543961.1:c.2327A>T	XP_011542263.1:p.His776Leu
XM_011543962.1:c.2306A>T	XP_011542264.1:p.His769Leu
XM_011543963.1:c.2270A>T	XP_011542265.1:p.His757Leu
XM_011543963.3:c.2270A>T	XP_011542265.1:p.His757Leu
XM_011543964.1:c.2249A>T	XP_011542266.1:p.His750Leu
XM_011543964.3:c.2249A>T	XP_011542266.1:p.His750Leu
XM_011543965.1:c.2225A>T	XP_011542267.1:p.His742Leu
XM_011543966.1:c.2204A>T	XP_011542268.1:p.His735Leu
XM_011543967.1:c.2306A>T	XP_011542269.1:p.His769Leu
XM_011543968.1:c.2171A>T	XP_011542270.1:p.His724Leu
XM_011543969.1:c.2168A>T	XP_011542271.1:p.His723Leu
XM_011543969.3:c.2168A>T	XP_011542271.1:p.His723Leu
XM_011543970.1:c.2147A>T	XP_011542272.1:p.His716Leu
XM_011543970.3:c.2147A>T	XP_011542272.1:p.His716Leu
XM_011543971.1:c.2225A>T	XP_011542273.1:p.His742Leu
XM_011543972.1:c.2114A>T	XP_011542274.1:p.His705Leu
XM_011543972.3:c.2114A>T	XP_011542274.1:p.His705Leu
XM_011543973.1:c.2171A>T	XP_011542275.1:p.His724Leu
XM_011543974.1:c.2249A>T	XP_011542276.1:p.His750Leu
XM_011543974.2:c.2249A>T	XP_011542276.1:p.His750Leu
XM_011543975.1:c.1652A>T	XP_011542277.1:p.His551Leu
XM_011543975.2:c.1652A>T	XP_011542277.1:p.His551Leu
XM_011543976.1:c.2462A>T	XP_011542278.1:p.His821Leu
XM_017029783.2:c.2168A>T	XP_016885272.1:p.His723Leu
XM_017029784.1:c.1517A>T	XP_016885273.1:p.His506Leu
XM_017029785.1:c.1259A>T	XP_016885274.1:p.His420Leu
XM_024452438.1:c.2303A>T	XP_024308206.1:p.His768Leu
XM_024452439.1:c.1880A>T	XP_024308207.1:p.His627Leu
XR_002958804.1:n.2775A>T
XR_949018.1:n.2839A>T