Canonical Allele Identifier: CA412802292

Gene: KDM6A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45079352G>A , CM000685.2:g.45079352G>A	GRCh38
NC_000023.10:g.44938597G>A , CM000685.1:g.44938597G>A	GRCh37
NC_000023.9:g.44823541G>A	NCBI36
NG_016260.1:g.211175G>A , LRG_616:g.211175G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001291415.2:c.3300+1G>A MANE Select	NP_001278344.1:n.3300+1G>A
ENST00000611820.5:c.3300+1G>A MANE Select	ENSP00000483595.2:n.3300+1G>A
NM_001291415.1:c.3300+1G>A , LRG_616t1:c.3300+1G>A	NP_001278344.1:n.3300+1G>A
NM_001291416.1:c.3165+1G>A	NP_001278345.1:n.3165+1G>A
NM_001291416.2:c.3165+1G>A	NP_001278345.1:n.3165+1G>A
NM_001291417.1:c.3009+1G>A	NP_001278346.1:n.3009+1G>A
NM_001291417.2:c.3009+1G>A	NP_001278346.1:n.3009+1G>A
NM_001291418.1:c.2907+1G>A	NP_001278347.1:n.2907+1G>A
NM_001291418.2:c.2907+1G>A	NP_001278347.1:n.2907+1G>A
NM_001291421.1:c.2256+1G>A	NP_001278350.1:n.2256+1G>A
NM_001291421.2:c.2256+1G>A	NP_001278350.1:n.2256+1G>A
NM_021140.3:c.3144+1G>A	NP_066963.2:n.3144+1G>A
NM_021140.4:c.3144+1G>A	NP_066963.2:n.3144+1G>A
NR_111960.1:n.3440+1G>A
NR_111960.2:n.3427+1G>A
ENST00000377967.8:c.3144+1G>A	ENSP00000367203.4:n.3144+1G>A
ENST00000377967.9:c.3144+1G>A	ENSP00000367203.4:n.3144+1G>A
ENST00000382899.8:c.3093+1G>A	ENSP00000372355.5:n.3093+1G>A
ENST00000382899.9:c.3165+1G>A	ENSP00000372355.6:n.3165+1G>A
ENST00000414389.5:c.1936+1G>A
ENST00000433797.5:c.2071+1G>A
ENST00000536777.5:c.2937+1G>A	ENSP00000437405.2:n.2937+1G>A
ENST00000536777.6:c.3009+1G>A	ENSP00000437405.3:n.3009+1G>A
ENST00000543216.5:c.2991+1G>A	ENSP00000443078.2:n.2991+1G>A
ENST00000543216.6:c.2907+1G>A	ENSP00000443078.3:n.2907+1G>A
ENST00000611820.4:c.3228+1G>A	ENSP00000483595.1:n.3228+1G>A
ENST00000621147.4:c.2595+859G>A	ENSP00000478793.1:n.2595+859G>A
ENST00000674541.1:c.*2432+1G>A	ENSP00000501919.1:n.*2432+1G>A
ENST00000674564.1:c.3063+1G>A	ENSP00000502150.1:n.3063+1G>A
ENST00000674586.1:c.3222+1G>A	ENSP00000502660.1:n.3222+1G>A
ENST00000674659.1:c.*2382+847G>A	ENSP00000502255.1:n.*2382+847G>A
ENST00000674739.1:n.4202+1G>A
ENST00000674867.1:c.3006+1G>A	ENSP00000502060.1:n.3006+1G>A
ENST00000675157.1:n.2751+1G>A
ENST00000675182.1:n.3184+1G>A
ENST00000675440.1:n.3321G>A
ENST00000675514.1:c.3144+1G>A	ENSP00000502759.1:n.3144+1G>A
ENST00000675525.1:n.5266+1G>A
ENST00000675546.1:n.9850+1G>A
ENST00000675577.1:c.3042+1G>A	ENSP00000501855.1:n.3042+1G>A
ENST00000675816.1:n.3320+1G>A
ENST00000676026.1:n.773+1G>A
ENST00000676062.1:c.3165+1G>A	ENSP00000502311.1:n.3165+1G>A
ENST00000676085.1:c.*2330+1G>A	ENSP00000501752.1:n.*2330+1G>A
ENST00000676133.1:c.*3197+1G>A	ENSP00000502586.1:n.*3197+1G>A
ENST00000676343.1:c.3165+1G>A	ENSP00000501761.1:n.3165+1G>A
ENST00000676389.1:n.3587+1G>A
ENST00000682908.1:c.3044+1G>A	ENSP00000508158.1:n.3044+1G>A
ENST00000683021.1:c.3063+1G>A	ENSP00000507416.1:n.3063+1G>A
ENST00000683425.1:c.*2627+1G>A	ENSP00000507291.1:n.*2627+1G>A
ENST00000684352.1:c.3074+1G>A	ENSP00000508379.1:n.3074+1G>A
XM_005272656.3:c.3198+1G>A	XP_005272713.1:n.3198+1G>A
XM_005272656.5:c.3198+1G>A	XP_005272713.1:n.3198+1G>A
XM_005272659.3:c.3042+1G>A	XP_005272716.1:n.3042+1G>A
XM_005272659.5:c.3042+1G>A	XP_005272716.1:n.3042+1G>A
XM_011543957.1:c.3357+1G>A	XP_011542259.1:n.3357+1G>A
XM_011543958.1:c.3300+1G>A	XP_011542260.1:n.3300+1G>A
XM_011543958.3:c.3300+1G>A	XP_011542260.1:n.3300+1G>A
XM_011543959.1:c.3255+1G>A	XP_011542261.1:n.3255+1G>A
XM_011543960.1:c.3357+1G>A	XP_011542262.1:n.3357+1G>A
XM_011543961.1:c.3222+1G>A	XP_011542263.1:n.3222+1G>A
XM_011543962.1:c.3201+1G>A	XP_011542264.1:n.3201+1G>A
XM_011543963.1:c.3165+1G>A	XP_011542265.1:n.3165+1G>A
XM_011543963.3:c.3165+1G>A	XP_011542265.1:n.3165+1G>A
XM_011543964.1:c.3144+1G>A	XP_011542266.1:n.3144+1G>A
XM_011543964.3:c.3144+1G>A	XP_011542266.1:n.3144+1G>A
XM_011543965.1:c.3120+1G>A	XP_011542267.1:n.3120+1G>A
XM_011543966.1:c.3099+1G>A	XP_011542268.1:n.3099+1G>A
XM_011543967.1:c.3201+1G>A	XP_011542269.1:n.3201+1G>A
XM_011543968.1:c.3066+1G>A	XP_011542270.1:n.3066+1G>A
XM_011543969.1:c.3063+1G>A	XP_011542271.1:n.3063+1G>A
XM_011543969.3:c.3063+1G>A	XP_011542271.1:n.3063+1G>A
XM_011543970.1:c.3042+1G>A	XP_011542272.1:n.3042+1G>A
XM_011543970.3:c.3042+1G>A	XP_011542272.1:n.3042+1G>A
XM_011543971.1:c.3120+1G>A	XP_011542273.1:n.3120+1G>A
XM_011543972.1:c.3009+1G>A	XP_011542274.1:n.3009+1G>A
XM_011543972.3:c.3009+1G>A	XP_011542274.1:n.3009+1G>A
XM_011543973.1:c.3066+1G>A	XP_011542275.1:n.3066+1G>A
XM_011543974.1:c.3144+1G>A	XP_011542276.1:n.3144+1G>A
XM_011543974.2:c.3144+1G>A	XP_011542276.1:n.3144+1G>A
XM_011543975.1:c.2547+1G>A	XP_011542277.1:n.2547+1G>A
XM_011543975.2:c.2547+1G>A	XP_011542277.1:n.2547+1G>A
XM_011543976.1:c.3357+1G>A	XP_011542278.1:n.3357+1G>A
XM_017029783.2:c.3063+1G>A	XP_016885272.1:n.3063+1G>A
XM_017029784.1:c.2412+1G>A	XP_016885273.1:n.2412+1G>A
XM_017029785.1:c.2154+1G>A	XP_016885274.1:n.2154+1G>A
XM_024452438.1:c.3198+1G>A	XP_024308206.1:n.3198+1G>A
XM_024452439.1:c.2775+1G>A	XP_024308207.1:n.2775+1G>A
XR_002958804.1:n.3670+1G>A
XR_949018.1:n.3734+1G>A