Canonical Allele Identifier: CA412791148

Gene: KDM6A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45063818G>A , CM000685.2:g.45063818G>A	GRCh38
NC_000023.10:g.44923063G>A , CM000685.1:g.44923063G>A	GRCh37
NC_000023.9:g.44808007G>A	NCBI36
NG_016260.1:g.195641G>A , LRG_616:g.195641G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001291415.2:c.2079+1G>A MANE Select	NP_001278344.1:n.2079+1G>A
ENST00000611820.5:c.2079+1G>A MANE Select	ENSP00000483595.2:n.2079+1G>A
NM_001291415.1:c.2079+1G>A , LRG_616t1:c.2079+1G>A	NP_001278344.1:n.2079+1G>A
NM_001291416.1:c.1944+1G>A	NP_001278345.1:n.1944+1G>A
NM_001291416.2:c.1944+1G>A	NP_001278345.1:n.1944+1G>A
NM_001291417.1:c.1788+1G>A	NP_001278346.1:n.1788+1G>A
NM_001291417.2:c.1788+1G>A	NP_001278346.1:n.1788+1G>A
NM_001291418.1:c.1686+1G>A	NP_001278347.1:n.1686+1G>A
NM_001291418.2:c.1686+1G>A	NP_001278347.1:n.1686+1G>A
NM_001291421.1:c.1035+1G>A	NP_001278350.1:n.1035+1G>A
NM_001291421.2:c.1035+1G>A	NP_001278350.1:n.1035+1G>A
NM_021140.3:c.1923+1G>A	NP_066963.2:n.1923+1G>A
NM_021140.4:c.1923+1G>A	NP_066963.2:n.1923+1G>A
NR_111960.1:n.2219+1G>A
NR_111960.2:n.2206+1G>A
ENST00000377967.8:c.1923+1G>A	ENSP00000367203.4:n.1923+1G>A
ENST00000377967.9:c.1923+1G>A	ENSP00000367203.4:n.1923+1G>A
ENST00000382899.8:c.1872+1G>A	ENSP00000372355.5:n.1872+1G>A
ENST00000382899.9:c.1944+1G>A	ENSP00000372355.6:n.1944+1G>A
ENST00000414389.5:c.715+1G>A
ENST00000433797.5:c.850+1G>A
ENST00000536777.5:c.1716+1G>A	ENSP00000437405.2:n.1716+1G>A
ENST00000536777.6:c.1788+1G>A	ENSP00000437405.3:n.1788+1G>A
ENST00000543216.5:c.1770+1G>A	ENSP00000443078.2:n.1770+1G>A
ENST00000543216.6:c.1686+1G>A	ENSP00000443078.3:n.1686+1G>A
ENST00000611820.4:c.2007+1G>A	ENSP00000483595.1:n.2007+1G>A
ENST00000621147.4:c.1592+1G>A	ENSP00000478793.1:n.1592+1G>A
ENST00000621147.5:c.1592+1G>A	ENSP00000478793.1:n.1592+1G>A
ENST00000674541.1:c.*1211+1G>A	ENSP00000501919.1:n.*1211+1G>A
ENST00000674564.1:c.1842+1G>A	ENSP00000502150.1:n.1842+1G>A
ENST00000674586.1:c.2001+1G>A	ENSP00000502660.1:n.2001+1G>A
ENST00000674659.1:c.*1367+1G>A	ENSP00000502255.1:n.*1367+1G>A
ENST00000674739.1:n.2981+1G>A
ENST00000674867.1:c.1785+1G>A	ENSP00000502060.1:n.1785+1G>A
ENST00000675157.1:n.1530+1G>A
ENST00000675182.1:n.1963+1G>A
ENST00000675440.1:n.2099+1G>A
ENST00000675514.1:c.1923+1G>A	ENSP00000502759.1:n.1923+1G>A
ENST00000675525.1:n.4045+1G>A
ENST00000675546.1:n.2290+1G>A
ENST00000675577.1:c.1821+1G>A	ENSP00000501855.1:n.1821+1G>A
ENST00000675816.1:n.2099+1G>A
ENST00000676062.1:c.1944+1G>A	ENSP00000502311.1:n.1944+1G>A
ENST00000676085.1:c.*1109+1G>A	ENSP00000501752.1:n.*1109+1G>A
ENST00000676133.1:c.*1513+1G>A	ENSP00000502586.1:n.*1513+1G>A
ENST00000676343.1:c.1944+1G>A	ENSP00000501761.1:n.1944+1G>A
ENST00000676389.1:n.1903+1G>A
ENST00000682908.1:c.1823+1G>A	ENSP00000508158.1:n.1823+1G>A
ENST00000683021.1:c.1842+1G>A	ENSP00000507416.1:n.1842+1G>A
ENST00000683425.1:c.*1406+1G>A	ENSP00000507291.1:n.*1406+1G>A
ENST00000684352.1:c.1944+1G>A	ENSP00000508379.1:n.1944+1G>A
XM_005272656.3:c.1977+1G>A	XP_005272713.1:n.1977+1G>A
XM_005272656.5:c.1977+1G>A	XP_005272713.1:n.1977+1G>A
XM_005272659.3:c.1821+1G>A	XP_005272716.1:n.1821+1G>A
XM_005272659.5:c.1821+1G>A	XP_005272716.1:n.1821+1G>A
XM_011543957.1:c.2136+1G>A	XP_011542259.1:n.2136+1G>A
XM_011543958.1:c.2079+1G>A	XP_011542260.1:n.2079+1G>A
XM_011543958.3:c.2079+1G>A	XP_011542260.1:n.2079+1G>A
XM_011543959.1:c.2034+1G>A	XP_011542261.1:n.2034+1G>A
XM_011543960.1:c.2136+1G>A	XP_011542262.1:n.2136+1G>A
XM_011543961.1:c.2001+1G>A	XP_011542263.1:n.2001+1G>A
XM_011543962.1:c.1980+1G>A	XP_011542264.1:n.1980+1G>A
XM_011543963.1:c.1944+1G>A	XP_011542265.1:n.1944+1G>A
XM_011543963.3:c.1944+1G>A	XP_011542265.1:n.1944+1G>A
XM_011543964.1:c.1923+1G>A	XP_011542266.1:n.1923+1G>A
XM_011543964.3:c.1923+1G>A	XP_011542266.1:n.1923+1G>A
XM_011543965.1:c.1899+1G>A	XP_011542267.1:n.1899+1G>A
XM_011543966.1:c.1878+1G>A	XP_011542268.1:n.1878+1G>A
XM_011543967.1:c.1980+1G>A	XP_011542269.1:n.1980+1G>A
XM_011543968.1:c.1845+1G>A	XP_011542270.1:n.1845+1G>A
XM_011543969.1:c.1842+1G>A	XP_011542271.1:n.1842+1G>A
XM_011543969.3:c.1842+1G>A	XP_011542271.1:n.1842+1G>A
XM_011543970.1:c.1821+1G>A	XP_011542272.1:n.1821+1G>A
XM_011543970.3:c.1821+1G>A	XP_011542272.1:n.1821+1G>A
XM_011543971.1:c.1899+1G>A	XP_011542273.1:n.1899+1G>A
XM_011543972.1:c.1788+1G>A	XP_011542274.1:n.1788+1G>A
XM_011543972.3:c.1788+1G>A	XP_011542274.1:n.1788+1G>A
XM_011543973.1:c.1845+1G>A	XP_011542275.1:n.1845+1G>A
XM_011543974.1:c.1923+1G>A	XP_011542276.1:n.1923+1G>A
XM_011543974.2:c.1923+1G>A	XP_011542276.1:n.1923+1G>A
XM_011543975.1:c.1326+1G>A	XP_011542277.1:n.1326+1G>A
XM_011543975.2:c.1326+1G>A	XP_011542277.1:n.1326+1G>A
XM_011543976.1:c.2136+1G>A	XP_011542278.1:n.2136+1G>A
XM_017029783.2:c.1842+1G>A	XP_016885272.1:n.1842+1G>A
XM_017029784.1:c.1191+1G>A	XP_016885273.1:n.1191+1G>A
XM_017029785.1:c.933+1G>A	XP_016885274.1:n.933+1G>A
XM_024452438.1:c.1977+1G>A	XP_024308206.1:n.1977+1G>A
XM_024452439.1:c.1554+1G>A	XP_024308207.1:n.1554+1G>A
XR_002958804.1:n.2449+1G>A
XR_949018.1:n.2513+1G>A