Canonical Allele Identifier: CA10392470

Gene: KDM6A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45069627C>T , CM000685.2:g.45069627C>T	GRCh38
NC_000023.10:g.44928872C>T , CM000685.1:g.44928872C>T	GRCh37
NC_000023.9:g.44813816C>T	NCBI36
NG_016260.1:g.201450C>T , LRG_616:g.201450C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001291415.2:c.2128C>T MANE Select	NP_001278344.1:p.Arg710Ter
ENST00000611820.5:c.2128C>T MANE Select	ENSP00000483595.2:p.Arg710Ter
NM_001291415.1:c.2128C>T , LRG_616t1:c.2128C>T	NP_001278344.1:p.Arg710Ter
NM_001291416.1:c.1993C>T	NP_001278345.1:p.Arg665Ter
NM_001291416.2:c.1993C>T	NP_001278345.1:p.Arg665Ter
NM_001291417.1:c.1837C>T	NP_001278346.1:p.Arg613Ter
NM_001291417.2:c.1837C>T	NP_001278346.1:p.Arg613Ter
NM_001291418.1:c.1735C>T	NP_001278347.1:p.Arg579Ter
NM_001291418.2:c.1735C>T	NP_001278347.1:p.Arg579Ter
NM_001291421.1:c.1084C>T	NP_001278350.1:p.Arg362Ter
NM_001291421.2:c.1084C>T	NP_001278350.1:p.Arg362Ter
NM_021140.3:c.1972C>T	NP_066963.2:p.Arg658Ter
NM_021140.4:c.1972C>T	NP_066963.2:p.Arg658Ter
NR_111960.1:n.2268C>T
NR_111960.2:n.2255C>T
ENST00000377967.8:c.1972C>T	ENSP00000367203.4:p.Arg658Ter
ENST00000377967.9:c.1972C>T	ENSP00000367203.4:p.Arg658Ter
ENST00000382899.8:c.1921C>T	ENSP00000372355.5:p.Arg641Ter
ENST00000382899.9:c.1993C>T	ENSP00000372355.6:p.Arg665Ter
ENST00000414389.5:c.764C>T
ENST00000433797.5:c.899C>T
ENST00000536777.5:c.1765C>T	ENSP00000437405.2:p.Arg589Ter
ENST00000536777.6:c.1837C>T	ENSP00000437405.3:p.Arg613Ter
ENST00000543216.5:c.1819C>T	ENSP00000443078.2:p.Arg607Ter
ENST00000543216.6:c.1735C>T	ENSP00000443078.3:p.Arg579Ter
ENST00000611820.4:c.2056C>T	ENSP00000483595.1:p.Arg686Ter
ENST00000621147.4:c.1641C>T	ENSP00000478793.1:n.1641C>T
ENST00000621147.5:c.1641C>T	ENSP00000478793.1:n.1641C>T
ENST00000674541.1:c.*1260C>T	ENSP00000501919.1:n.*1260C>T
ENST00000674564.1:c.1891C>T	ENSP00000502150.1:p.Arg631Ter
ENST00000674586.1:c.2050C>T	ENSP00000502660.1:p.Arg684Ter
ENST00000674659.1:c.*1416C>T	ENSP00000502255.1:n.*1416C>T
ENST00000674739.1:n.3030C>T
ENST00000674867.1:c.1834C>T	ENSP00000502060.1:p.Arg612Ter
ENST00000675157.1:n.1579C>T
ENST00000675182.1:n.2012C>T
ENST00000675440.1:n.2148C>T
ENST00000675514.1:c.1972C>T	ENSP00000502759.1:p.Arg658Ter
ENST00000675525.1:n.4094C>T
ENST00000675546.1:n.2339C>T
ENST00000675577.1:c.1870C>T	ENSP00000501855.1:p.Arg624Ter
ENST00000675816.1:n.2148C>T
ENST00000676062.1:c.1993C>T	ENSP00000502311.1:p.Arg665Ter
ENST00000676085.1:c.*1158C>T	ENSP00000501752.1:n.*1158C>T
ENST00000676133.1:c.*2025C>T	ENSP00000502586.1:n.*2025C>T
ENST00000676343.1:c.1993C>T	ENSP00000501761.1:p.Arg665Ter
ENST00000676389.1:n.2415C>T
ENST00000682908.1:c.1872C>T	ENSP00000508158.1:n.1872C>T
ENST00000683021.1:c.1891C>T	ENSP00000507416.1:p.Arg631Ter
ENST00000683425.1:c.*1455C>T	ENSP00000507291.1:n.*1455C>T
ENST00000684352.1:c.1993C>T	ENSP00000508379.1:p.Arg665Ter
XM_005272656.3:c.2026C>T	XP_005272713.1:p.Arg676Ter
XM_005272656.5:c.2026C>T	XP_005272713.1:p.Arg676Ter
XM_005272659.3:c.1870C>T	XP_005272716.1:p.Arg624Ter
XM_005272659.5:c.1870C>T	XP_005272716.1:p.Arg624Ter
XM_011543957.1:c.2185C>T	XP_011542259.1:p.Arg729Ter
XM_011543958.1:c.2128C>T	XP_011542260.1:p.Arg710Ter
XM_011543958.3:c.2128C>T	XP_011542260.1:p.Arg710Ter
XM_011543959.1:c.2083C>T	XP_011542261.1:p.Arg695Ter
XM_011543960.1:c.2185C>T	XP_011542262.1:p.Arg729Ter
XM_011543961.1:c.2050C>T	XP_011542263.1:p.Arg684Ter
XM_011543962.1:c.2029C>T	XP_011542264.1:p.Arg677Ter
XM_011543963.1:c.1993C>T	XP_011542265.1:p.Arg665Ter
XM_011543963.3:c.1993C>T	XP_011542265.1:p.Arg665Ter
XM_011543964.1:c.1972C>T	XP_011542266.1:p.Arg658Ter
XM_011543964.3:c.1972C>T	XP_011542266.1:p.Arg658Ter
XM_011543965.1:c.1948C>T	XP_011542267.1:p.Arg650Ter
XM_011543966.1:c.1927C>T	XP_011542268.1:p.Arg643Ter
XM_011543967.1:c.2029C>T	XP_011542269.1:p.Arg677Ter
XM_011543968.1:c.1894C>T	XP_011542270.1:p.Arg632Ter
XM_011543969.1:c.1891C>T	XP_011542271.1:p.Arg631Ter
XM_011543969.3:c.1891C>T	XP_011542271.1:p.Arg631Ter
XM_011543970.1:c.1870C>T	XP_011542272.1:p.Arg624Ter
XM_011543970.3:c.1870C>T	XP_011542272.1:p.Arg624Ter
XM_011543971.1:c.1948C>T	XP_011542273.1:p.Arg650Ter
XM_011543972.1:c.1837C>T	XP_011542274.1:p.Arg613Ter
XM_011543972.3:c.1837C>T	XP_011542274.1:p.Arg613Ter
XM_011543973.1:c.1894C>T	XP_011542275.1:p.Arg632Ter
XM_011543974.1:c.1972C>T	XP_011542276.1:p.Arg658Ter
XM_011543974.2:c.1972C>T	XP_011542276.1:p.Arg658Ter
XM_011543975.1:c.1375C>T	XP_011542277.1:p.Arg459Ter
XM_011543975.2:c.1375C>T	XP_011542277.1:p.Arg459Ter
XM_011543976.1:c.2185C>T	XP_011542278.1:p.Arg729Ter
XM_017029783.2:c.1891C>T	XP_016885272.1:p.Arg631Ter
XM_017029784.1:c.1240C>T	XP_016885273.1:p.Arg414Ter
XM_017029785.1:c.982C>T	XP_016885274.1:p.Arg328Ter
XM_024452438.1:c.2026C>T	XP_024308206.1:p.Arg676Ter
XM_024452439.1:c.1603C>T	XP_024308207.1:p.Arg535Ter
XR_002958804.1:n.2498C>T
XR_949018.1:n.2562C>T