Canonical Allele Identifier: CA10392498

Gene: KDM6A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45069849A>G , CM000685.2:g.45069849A>G	GRCh38
NC_000023.10:g.44929094A>G , CM000685.1:g.44929094A>G	GRCh37
NC_000023.9:g.44814038A>G	NCBI36
NG_016260.1:g.201672A>G , LRG_616:g.201672A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001291415.2:c.2350A>G MANE Select	NP_001278344.1:p.Arg784Gly
ENST00000611820.5:c.2350A>G MANE Select	ENSP00000483595.2:p.Arg784Gly
NM_001291415.1:c.2350A>G , LRG_616t1:c.2350A>G	NP_001278344.1:p.Arg784Gly
NM_001291416.1:c.2215A>G	NP_001278345.1:p.Arg739Gly
NM_001291416.2:c.2215A>G	NP_001278345.1:p.Arg739Gly
NM_001291417.1:c.2059A>G	NP_001278346.1:p.Arg687Gly
NM_001291417.2:c.2059A>G	NP_001278346.1:p.Arg687Gly
NM_001291418.1:c.1957A>G	NP_001278347.1:p.Arg653Gly
NM_001291418.2:c.1957A>G	NP_001278347.1:p.Arg653Gly
NM_001291421.1:c.1306A>G	NP_001278350.1:p.Arg436Gly
NM_001291421.2:c.1306A>G	NP_001278350.1:p.Arg436Gly
NM_021140.3:c.2194A>G	NP_066963.2:p.Arg732Gly
NM_021140.4:c.2194A>G	NP_066963.2:p.Arg732Gly
NR_111960.1:n.2490A>G
NR_111960.2:n.2477A>G
ENST00000377967.8:c.2194A>G	ENSP00000367203.4:p.Arg732Gly
ENST00000377967.9:c.2194A>G	ENSP00000367203.4:p.Arg732Gly
ENST00000382899.8:c.2143A>G	ENSP00000372355.5:p.Arg715Gly
ENST00000382899.9:c.2215A>G	ENSP00000372355.6:p.Arg739Gly
ENST00000414389.5:c.986A>G
ENST00000433797.5:c.1121A>G
ENST00000536777.5:c.1987A>G	ENSP00000437405.2:p.Arg663Gly
ENST00000536777.6:c.2059A>G	ENSP00000437405.3:p.Arg687Gly
ENST00000543216.5:c.2041A>G	ENSP00000443078.2:p.Arg681Gly
ENST00000543216.6:c.1957A>G	ENSP00000443078.3:p.Arg653Gly
ENST00000611820.4:c.2278A>G	ENSP00000483595.1:p.Arg760Gly
ENST00000621147.4:c.1863A>G	ENSP00000478793.1:n.1863A>G
ENST00000621147.5:c.1863A>G	ENSP00000478793.1:n.1863A>G
ENST00000674541.1:c.*1482A>G	ENSP00000501919.1:n.*1482A>G
ENST00000674564.1:c.2113A>G	ENSP00000502150.1:p.Arg705Gly
ENST00000674586.1:c.2272A>G	ENSP00000502660.1:p.Arg758Gly
ENST00000674659.1:c.*1638A>G	ENSP00000502255.1:n.*1638A>G
ENST00000674739.1:n.3252A>G
ENST00000674867.1:c.2056A>G	ENSP00000502060.1:p.Arg686Gly
ENST00000675157.1:n.1801A>G
ENST00000675182.1:n.2234A>G
ENST00000675440.1:n.2370A>G
ENST00000675514.1:c.2194A>G	ENSP00000502759.1:p.Arg732Gly
ENST00000675525.1:n.4316A>G
ENST00000675546.1:n.2561A>G
ENST00000675577.1:c.2092A>G	ENSP00000501855.1:p.Arg698Gly
ENST00000675816.1:n.2370A>G
ENST00000676062.1:c.2215A>G	ENSP00000502311.1:p.Arg739Gly
ENST00000676085.1:c.*1380A>G	ENSP00000501752.1:n.*1380A>G
ENST00000676133.1:c.*2247A>G	ENSP00000502586.1:n.*2247A>G
ENST00000676343.1:c.2215A>G	ENSP00000501761.1:p.Arg739Gly
ENST00000676389.1:n.2637A>G
ENST00000682908.1:c.2094A>G	ENSP00000508158.1:n.2094A>G
ENST00000683021.1:c.2113A>G	ENSP00000507416.1:p.Arg705Gly
ENST00000683425.1:c.*1677A>G	ENSP00000507291.1:n.*1677A>G
ENST00000684352.1:c.2215A>G	ENSP00000508379.1:p.Arg739Gly
XM_005272656.3:c.2248A>G	XP_005272713.1:p.Arg750Gly
XM_005272656.5:c.2248A>G	XP_005272713.1:p.Arg750Gly
XM_005272659.3:c.2092A>G	XP_005272716.1:p.Arg698Gly
XM_005272659.5:c.2092A>G	XP_005272716.1:p.Arg698Gly
XM_011543957.1:c.2407A>G	XP_011542259.1:p.Arg803Gly
XM_011543958.1:c.2350A>G	XP_011542260.1:p.Arg784Gly
XM_011543958.3:c.2350A>G	XP_011542260.1:p.Arg784Gly
XM_011543959.1:c.2305A>G	XP_011542261.1:p.Arg769Gly
XM_011543960.1:c.2407A>G	XP_011542262.1:p.Arg803Gly
XM_011543961.1:c.2272A>G	XP_011542263.1:p.Arg758Gly
XM_011543962.1:c.2251A>G	XP_011542264.1:p.Arg751Gly
XM_011543963.1:c.2215A>G	XP_011542265.1:p.Arg739Gly
XM_011543963.3:c.2215A>G	XP_011542265.1:p.Arg739Gly
XM_011543964.1:c.2194A>G	XP_011542266.1:p.Arg732Gly
XM_011543964.3:c.2194A>G	XP_011542266.1:p.Arg732Gly
XM_011543965.1:c.2170A>G	XP_011542267.1:p.Arg724Gly
XM_011543966.1:c.2149A>G	XP_011542268.1:p.Arg717Gly
XM_011543967.1:c.2251A>G	XP_011542269.1:p.Arg751Gly
XM_011543968.1:c.2116A>G	XP_011542270.1:p.Arg706Gly
XM_011543969.1:c.2113A>G	XP_011542271.1:p.Arg705Gly
XM_011543969.3:c.2113A>G	XP_011542271.1:p.Arg705Gly
XM_011543970.1:c.2092A>G	XP_011542272.1:p.Arg698Gly
XM_011543970.3:c.2092A>G	XP_011542272.1:p.Arg698Gly
XM_011543971.1:c.2170A>G	XP_011542273.1:p.Arg724Gly
XM_011543972.1:c.2059A>G	XP_011542274.1:p.Arg687Gly
XM_011543972.3:c.2059A>G	XP_011542274.1:p.Arg687Gly
XM_011543973.1:c.2116A>G	XP_011542275.1:p.Arg706Gly
XM_011543974.1:c.2194A>G	XP_011542276.1:p.Arg732Gly
XM_011543974.2:c.2194A>G	XP_011542276.1:p.Arg732Gly
XM_011543975.1:c.1597A>G	XP_011542277.1:p.Arg533Gly
XM_011543975.2:c.1597A>G	XP_011542277.1:p.Arg533Gly
XM_011543976.1:c.2407A>G	XP_011542278.1:p.Arg803Gly
XM_017029783.2:c.2113A>G	XP_016885272.1:p.Arg705Gly
XM_017029784.1:c.1462A>G	XP_016885273.1:p.Arg488Gly
XM_017029785.1:c.1204A>G	XP_016885274.1:p.Arg402Gly
XM_024452438.1:c.2248A>G	XP_024308206.1:p.Arg750Gly
XM_024452439.1:c.1825A>G	XP_024308207.1:p.Arg609Gly
XR_002958804.1:n.2720A>G
XR_949018.1:n.2784A>G