Canonical Allele Identifier: CA10392569

Gene: KDM6A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45076737T>C , CM000685.2:g.45076737T>C	GRCh38
NC_000023.10:g.44935982T>C , CM000685.1:g.44935982T>C	GRCh37
NC_000023.9:g.44820926T>C	NCBI36
NG_016260.1:g.208560T>C , LRG_616:g.208560T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001291415.2:c.2899T>C MANE Select	NP_001278344.1:p.Leu967=
ENST00000611820.5:c.2899T>C MANE Select	ENSP00000483595.2:p.Leu967=
NM_001291415.1:c.2899T>C , LRG_616t1:c.2899T>C	NP_001278344.1:p.Leu967=
NM_001291416.1:c.2764T>C	NP_001278345.1:p.Leu922=
NM_001291416.2:c.2764T>C	NP_001278345.1:p.Leu922=
NM_001291417.1:c.2608T>C	NP_001278346.1:p.Leu870=
NM_001291417.2:c.2608T>C	NP_001278346.1:p.Leu870=
NM_001291418.1:c.2506T>C	NP_001278347.1:p.Leu836=
NM_001291418.2:c.2506T>C	NP_001278347.1:p.Leu836=
NM_001291421.1:c.1855T>C	NP_001278350.1:p.Leu619=
NM_001291421.2:c.1855T>C	NP_001278350.1:p.Leu619=
NM_021140.3:c.2743T>C	NP_066963.2:p.Leu915=
NM_021140.4:c.2743T>C	NP_066963.2:p.Leu915=
NR_111960.1:n.3039T>C
NR_111960.2:n.3026T>C
ENST00000377967.8:c.2743T>C	ENSP00000367203.4:p.Leu915=
ENST00000377967.9:c.2743T>C	ENSP00000367203.4:p.Leu915=
ENST00000382899.8:c.2692T>C	ENSP00000372355.5:p.Leu898=
ENST00000382899.9:c.2764T>C	ENSP00000372355.6:p.Leu922=
ENST00000414389.5:c.1535T>C
ENST00000433797.5:c.1670T>C
ENST00000536777.5:c.2536T>C	ENSP00000437405.2:p.Leu846=
ENST00000536777.6:c.2608T>C	ENSP00000437405.3:p.Leu870=
ENST00000543216.5:c.2590T>C	ENSP00000443078.2:p.Leu864=
ENST00000543216.6:c.2506T>C	ENSP00000443078.3:p.Leu836=
ENST00000611820.4:c.2827T>C	ENSP00000483595.1:p.Leu943=
ENST00000621147.4:c.2412T>C	ENSP00000478793.1:n.2412T>C
ENST00000621147.5:c.2412T>C	ENSP00000478793.1:n.2412T>C
ENST00000674541.1:c.*2031T>C	ENSP00000501919.1:n.*2031T>C
ENST00000674564.1:c.2662T>C	ENSP00000502150.1:p.Leu888=
ENST00000674586.1:c.2821T>C	ENSP00000502660.1:p.Leu941=
ENST00000674659.1:c.*2187T>C	ENSP00000502255.1:n.*2187T>C
ENST00000674739.1:n.3801T>C
ENST00000674867.1:c.2605T>C	ENSP00000502060.1:p.Leu869=
ENST00000675157.1:n.2350T>C
ENST00000675182.1:n.2783T>C
ENST00000675440.1:n.2919T>C
ENST00000675514.1:c.2743T>C	ENSP00000502759.1:p.Leu915=
ENST00000675525.1:n.4865T>C
ENST00000675546.1:n.9449T>C
ENST00000675577.1:c.2641T>C	ENSP00000501855.1:p.Leu881=
ENST00000675816.1:n.2919T>C
ENST00000676062.1:c.2764T>C	ENSP00000502311.1:p.Leu922=
ENST00000676085.1:c.*1929T>C	ENSP00000501752.1:n.*1929T>C
ENST00000676133.1:c.*2796T>C	ENSP00000502586.1:n.*2796T>C
ENST00000676343.1:c.2764T>C	ENSP00000501761.1:p.Leu922=
ENST00000676389.1:n.3186T>C
ENST00000682908.1:c.2643T>C	ENSP00000508158.1:n.2643T>C
ENST00000683021.1:c.2662T>C	ENSP00000507416.1:p.Leu888=
ENST00000683425.1:c.*2226T>C	ENSP00000507291.1:n.*2226T>C
ENST00000684352.1:c.2673T>C	ENSP00000508379.1:n.2673T>C
XM_005272656.3:c.2797T>C	XP_005272713.1:p.Leu933=
XM_005272656.5:c.2797T>C	XP_005272713.1:p.Leu933=
XM_005272659.3:c.2641T>C	XP_005272716.1:p.Leu881=
XM_005272659.5:c.2641T>C	XP_005272716.1:p.Leu881=
XM_011543957.1:c.2956T>C	XP_011542259.1:p.Leu986=
XM_011543958.1:c.2899T>C	XP_011542260.1:p.Leu967=
XM_011543958.3:c.2899T>C	XP_011542260.1:p.Leu967=
XM_011543959.1:c.2854T>C	XP_011542261.1:p.Leu952=
XM_011543960.1:c.2956T>C	XP_011542262.1:p.Leu986=
XM_011543961.1:c.2821T>C	XP_011542263.1:p.Leu941=
XM_011543962.1:c.2800T>C	XP_011542264.1:p.Leu934=
XM_011543963.1:c.2764T>C	XP_011542265.1:p.Leu922=
XM_011543963.3:c.2764T>C	XP_011542265.1:p.Leu922=
XM_011543964.1:c.2743T>C	XP_011542266.1:p.Leu915=
XM_011543964.3:c.2743T>C	XP_011542266.1:p.Leu915=
XM_011543965.1:c.2719T>C	XP_011542267.1:p.Leu907=
XM_011543966.1:c.2698T>C	XP_011542268.1:p.Leu900=
XM_011543967.1:c.2800T>C	XP_011542269.1:p.Leu934=
XM_011543968.1:c.2665T>C	XP_011542270.1:p.Leu889=
XM_011543969.1:c.2662T>C	XP_011542271.1:p.Leu888=
XM_011543969.3:c.2662T>C	XP_011542271.1:p.Leu888=
XM_011543970.1:c.2641T>C	XP_011542272.1:p.Leu881=
XM_011543970.3:c.2641T>C	XP_011542272.1:p.Leu881=
XM_011543971.1:c.2719T>C	XP_011542273.1:p.Leu907=
XM_011543972.1:c.2608T>C	XP_011542274.1:p.Leu870=
XM_011543972.3:c.2608T>C	XP_011542274.1:p.Leu870=
XM_011543973.1:c.2665T>C	XP_011542275.1:p.Leu889=
XM_011543974.1:c.2743T>C	XP_011542276.1:p.Leu915=
XM_011543974.2:c.2743T>C	XP_011542276.1:p.Leu915=
XM_011543975.1:c.2146T>C	XP_011542277.1:p.Leu716=
XM_011543975.2:c.2146T>C	XP_011542277.1:p.Leu716=
XM_011543976.1:c.2956T>C	XP_011542278.1:p.Leu986=
XM_017029783.2:c.2662T>C	XP_016885272.1:p.Leu888=
XM_017029784.1:c.2011T>C	XP_016885273.1:p.Leu671=
XM_017029785.1:c.1753T>C	XP_016885274.1:p.Leu585=
XM_024452438.1:c.2797T>C	XP_024308206.1:p.Leu933=
XM_024452439.1:c.2374T>C	XP_024308207.1:p.Leu792=
XR_002958804.1:n.3269T>C
XR_949018.1:n.3333T>C