Canonical Allele Identifier: CA329049845

Gene: KDM6A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45069805A>C , CM000685.2:g.45069805A>C	GRCh38
NC_000023.10:g.44929050A>C , CM000685.1:g.44929050A>C	GRCh37
NC_000023.9:g.44813994A>C	NCBI36
NG_016260.1:g.201628A>C , LRG_616:g.201628A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001291415.2:c.2306A>C MANE Select	NP_001278344.1:p.Glu769Ala
ENST00000611820.5:c.2306A>C MANE Select	ENSP00000483595.2:p.Glu769Ala
NM_001291415.1:c.2306A>C , LRG_616t1:c.2306A>C	NP_001278344.1:p.Glu769Ala
NM_001291416.1:c.2171A>C	NP_001278345.1:p.Glu724Ala
NM_001291416.2:c.2171A>C	NP_001278345.1:p.Glu724Ala
NM_001291417.1:c.2015A>C	NP_001278346.1:p.Glu672Ala
NM_001291417.2:c.2015A>C	NP_001278346.1:p.Glu672Ala
NM_001291418.1:c.1913A>C	NP_001278347.1:p.Glu638Ala
NM_001291418.2:c.1913A>C	NP_001278347.1:p.Glu638Ala
NM_001291421.1:c.1262A>C	NP_001278350.1:p.Glu421Ala
NM_001291421.2:c.1262A>C	NP_001278350.1:p.Glu421Ala
NM_021140.3:c.2150A>C	NP_066963.2:p.Glu717Ala
NM_021140.4:c.2150A>C	NP_066963.2:p.Glu717Ala
NR_111960.1:n.2446A>C
NR_111960.2:n.2433A>C
ENST00000377967.8:c.2150A>C	ENSP00000367203.4:p.Glu717Ala
ENST00000377967.9:c.2150A>C	ENSP00000367203.4:p.Glu717Ala
ENST00000382899.8:c.2099A>C	ENSP00000372355.5:p.Glu700Ala
ENST00000382899.9:c.2171A>C	ENSP00000372355.6:p.Glu724Ala
ENST00000414389.5:c.942A>C
ENST00000433797.5:c.1077A>C
ENST00000536777.5:c.1943A>C	ENSP00000437405.2:p.Glu648Ala
ENST00000536777.6:c.2015A>C	ENSP00000437405.3:p.Glu672Ala
ENST00000543216.5:c.1997A>C	ENSP00000443078.2:p.Glu666Ala
ENST00000543216.6:c.1913A>C	ENSP00000443078.3:p.Glu638Ala
ENST00000611820.4:c.2234A>C	ENSP00000483595.1:p.Glu745Ala
ENST00000621147.4:c.1819A>C	ENSP00000478793.1:n.1819A>C
ENST00000621147.5:c.1819A>C	ENSP00000478793.1:n.1819A>C
ENST00000674541.1:c.*1438A>C	ENSP00000501919.1:n.*1438A>C
ENST00000674564.1:c.2069A>C	ENSP00000502150.1:p.Glu690Ala
ENST00000674586.1:c.2228A>C	ENSP00000502660.1:p.Glu743Ala
ENST00000674659.1:c.*1594A>C	ENSP00000502255.1:n.*1594A>C
ENST00000674739.1:n.3208A>C
ENST00000674867.1:c.2012A>C	ENSP00000502060.1:p.Glu671Ala
ENST00000675157.1:n.1757A>C
ENST00000675182.1:n.2190A>C
ENST00000675440.1:n.2326A>C
ENST00000675514.1:c.2150A>C	ENSP00000502759.1:p.Glu717Ala
ENST00000675525.1:n.4272A>C
ENST00000675546.1:n.2517A>C
ENST00000675577.1:c.2048A>C	ENSP00000501855.1:p.Glu683Ala
ENST00000675816.1:n.2326A>C
ENST00000676062.1:c.2171A>C	ENSP00000502311.1:p.Glu724Ala
ENST00000676085.1:c.*1336A>C	ENSP00000501752.1:n.*1336A>C
ENST00000676133.1:c.*2203A>C	ENSP00000502586.1:n.*2203A>C
ENST00000676343.1:c.2171A>C	ENSP00000501761.1:p.Glu724Ala
ENST00000676389.1:n.2593A>C
ENST00000682908.1:c.2050A>C	ENSP00000508158.1:n.2050A>C
ENST00000683021.1:c.2069A>C	ENSP00000507416.1:p.Glu690Ala
ENST00000683425.1:c.*1633A>C	ENSP00000507291.1:n.*1633A>C
ENST00000684352.1:c.2171A>C	ENSP00000508379.1:p.Glu724Ala
XM_005272656.3:c.2204A>C	XP_005272713.1:p.Glu735Ala
XM_005272656.5:c.2204A>C	XP_005272713.1:p.Glu735Ala
XM_005272659.3:c.2048A>C	XP_005272716.1:p.Glu683Ala
XM_005272659.5:c.2048A>C	XP_005272716.1:p.Glu683Ala
XM_011543957.1:c.2363A>C	XP_011542259.1:p.Glu788Ala
XM_011543958.1:c.2306A>C	XP_011542260.1:p.Glu769Ala
XM_011543958.3:c.2306A>C	XP_011542260.1:p.Glu769Ala
XM_011543959.1:c.2261A>C	XP_011542261.1:p.Glu754Ala
XM_011543960.1:c.2363A>C	XP_011542262.1:p.Glu788Ala
XM_011543961.1:c.2228A>C	XP_011542263.1:p.Glu743Ala
XM_011543962.1:c.2207A>C	XP_011542264.1:p.Glu736Ala
XM_011543963.1:c.2171A>C	XP_011542265.1:p.Glu724Ala
XM_011543963.3:c.2171A>C	XP_011542265.1:p.Glu724Ala
XM_011543964.1:c.2150A>C	XP_011542266.1:p.Glu717Ala
XM_011543964.3:c.2150A>C	XP_011542266.1:p.Glu717Ala
XM_011543965.1:c.2126A>C	XP_011542267.1:p.Glu709Ala
XM_011543966.1:c.2105A>C	XP_011542268.1:p.Glu702Ala
XM_011543967.1:c.2207A>C	XP_011542269.1:p.Glu736Ala
XM_011543968.1:c.2072A>C	XP_011542270.1:p.Glu691Ala
XM_011543969.1:c.2069A>C	XP_011542271.1:p.Glu690Ala
XM_011543969.3:c.2069A>C	XP_011542271.1:p.Glu690Ala
XM_011543970.1:c.2048A>C	XP_011542272.1:p.Glu683Ala
XM_011543970.3:c.2048A>C	XP_011542272.1:p.Glu683Ala
XM_011543971.1:c.2126A>C	XP_011542273.1:p.Glu709Ala
XM_011543972.1:c.2015A>C	XP_011542274.1:p.Glu672Ala
XM_011543972.3:c.2015A>C	XP_011542274.1:p.Glu672Ala
XM_011543973.1:c.2072A>C	XP_011542275.1:p.Glu691Ala
XM_011543974.1:c.2150A>C	XP_011542276.1:p.Glu717Ala
XM_011543974.2:c.2150A>C	XP_011542276.1:p.Glu717Ala
XM_011543975.1:c.1553A>C	XP_011542277.1:p.Glu518Ala
XM_011543975.2:c.1553A>C	XP_011542277.1:p.Glu518Ala
XM_011543976.1:c.2363A>C	XP_011542278.1:p.Glu788Ala
XM_017029783.2:c.2069A>C	XP_016885272.1:p.Glu690Ala
XM_017029784.1:c.1418A>C	XP_016885273.1:p.Glu473Ala
XM_017029785.1:c.1160A>C	XP_016885274.1:p.Glu387Ala
XM_024452438.1:c.2204A>C	XP_024308206.1:p.Glu735Ala
XM_024452439.1:c.1781A>C	XP_024308207.1:p.Glu594Ala
XR_002958804.1:n.2676A>C
XR_949018.1:n.2740A>C