Canonical Allele Identifier: CA329046382

Gene: KDM6A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45063474C>G , CM000685.2:g.45063474C>G	GRCh38
NC_000023.10:g.44922719C>G , CM000685.1:g.44922719C>G	GRCh37
NC_000023.9:g.44807663C>G	NCBI36
NG_016260.1:g.195297C>G , LRG_616:g.195297C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001291415.2:c.1736C>G MANE Select	NP_001278344.1:p.Pro579Arg
ENST00000611820.5:c.1736C>G MANE Select	ENSP00000483595.2:p.Pro579Arg
NM_001291415.1:c.1736C>G , LRG_616t1:c.1736C>G	NP_001278344.1:p.Pro579Arg
NM_001291416.1:c.1601C>G	NP_001278345.1:p.Pro534Arg
NM_001291416.2:c.1601C>G	NP_001278345.1:p.Pro534Arg
NM_001291417.1:c.1445C>G	NP_001278346.1:p.Pro482Arg
NM_001291417.2:c.1445C>G	NP_001278346.1:p.Pro482Arg
NM_001291418.1:c.1343C>G	NP_001278347.1:p.Pro448Arg
NM_001291418.2:c.1343C>G	NP_001278347.1:p.Pro448Arg
NM_001291421.1:c.692C>G	NP_001278350.1:p.Pro231Arg
NM_001291421.2:c.692C>G	NP_001278350.1:p.Pro231Arg
NM_021140.3:c.1580C>G	NP_066963.2:p.Pro527Arg
NM_021140.4:c.1580C>G	NP_066963.2:p.Pro527Arg
NR_111960.1:n.1876C>G
NR_111960.2:n.1863C>G
ENST00000377967.8:c.1580C>G	ENSP00000367203.4:p.Pro527Arg
ENST00000377967.9:c.1580C>G	ENSP00000367203.4:p.Pro527Arg
ENST00000382899.8:c.1529C>G	ENSP00000372355.5:p.Pro510Arg
ENST00000382899.9:c.1601C>G	ENSP00000372355.6:p.Pro534Arg
ENST00000414389.5:c.372C>G
ENST00000433797.5:c.507C>G
ENST00000451692.5:c.469C>G
ENST00000536777.5:c.1373C>G	ENSP00000437405.2:p.Pro458Arg
ENST00000536777.6:c.1445C>G	ENSP00000437405.3:p.Pro482Arg
ENST00000543216.5:c.1427C>G	ENSP00000443078.2:p.Pro476Arg
ENST00000543216.6:c.1343C>G	ENSP00000443078.3:p.Pro448Arg
ENST00000611820.4:c.1664C>G	ENSP00000483595.1:p.Pro555Arg
ENST00000621147.4:c.1249C>G	ENSP00000478793.1:n.1249C>G
ENST00000621147.5:c.1249C>G	ENSP00000478793.1:n.1249C>G
ENST00000674541.1:c.*868C>G	ENSP00000501919.1:n.*868C>G
ENST00000674564.1:c.1499C>G	ENSP00000502150.1:p.Pro500Arg
ENST00000674586.1:c.1658C>G	ENSP00000502660.1:p.Pro553Arg
ENST00000674659.1:c.*1024C>G	ENSP00000502255.1:n.*1024C>G
ENST00000674739.1:n.2638C>G
ENST00000674867.1:c.1442C>G	ENSP00000502060.1:p.Pro481Arg
ENST00000675157.1:n.1187C>G
ENST00000675182.1:n.1620C>G
ENST00000675440.1:n.1756C>G
ENST00000675514.1:c.1580C>G	ENSP00000502759.1:p.Pro527Arg
ENST00000675525.1:n.3702C>G
ENST00000675546.1:n.1947C>G
ENST00000675577.1:c.1478C>G	ENSP00000501855.1:p.Pro493Arg
ENST00000675816.1:n.1756C>G
ENST00000676062.1:c.1601C>G	ENSP00000502311.1:p.Pro534Arg
ENST00000676085.1:c.*766C>G	ENSP00000501752.1:n.*766C>G
ENST00000676133.1:c.*1170C>G	ENSP00000502586.1:n.*1170C>G
ENST00000676343.1:c.1601C>G	ENSP00000501761.1:p.Pro534Arg
ENST00000676389.1:n.1560C>G
ENST00000682908.1:c.1480C>G	ENSP00000508158.1:n.1480C>G
ENST00000683021.1:c.1499C>G	ENSP00000507416.1:p.Pro500Arg
ENST00000683425.1:c.*1063C>G	ENSP00000507291.1:n.*1063C>G
ENST00000684352.1:c.1601C>G	ENSP00000508379.1:p.Pro534Arg
XM_005272656.3:c.1634C>G	XP_005272713.1:p.Pro545Arg
XM_005272656.5:c.1634C>G	XP_005272713.1:p.Pro545Arg
XM_005272659.3:c.1478C>G	XP_005272716.1:p.Pro493Arg
XM_005272659.5:c.1478C>G	XP_005272716.1:p.Pro493Arg
XM_011543957.1:c.1793C>G	XP_011542259.1:p.Pro598Arg
XM_011543958.1:c.1736C>G	XP_011542260.1:p.Pro579Arg
XM_011543958.3:c.1736C>G	XP_011542260.1:p.Pro579Arg
XM_011543959.1:c.1691C>G	XP_011542261.1:p.Pro564Arg
XM_011543960.1:c.1793C>G	XP_011542262.1:p.Pro598Arg
XM_011543961.1:c.1658C>G	XP_011542263.1:p.Pro553Arg
XM_011543962.1:c.1637C>G	XP_011542264.1:p.Pro546Arg
XM_011543963.1:c.1601C>G	XP_011542265.1:p.Pro534Arg
XM_011543963.3:c.1601C>G	XP_011542265.1:p.Pro534Arg
XM_011543964.1:c.1580C>G	XP_011542266.1:p.Pro527Arg
XM_011543964.3:c.1580C>G	XP_011542266.1:p.Pro527Arg
XM_011543965.1:c.1556C>G	XP_011542267.1:p.Pro519Arg
XM_011543966.1:c.1535C>G	XP_011542268.1:p.Pro512Arg
XM_011543967.1:c.1637C>G	XP_011542269.1:p.Pro546Arg
XM_011543968.1:c.1502C>G	XP_011542270.1:p.Pro501Arg
XM_011543969.1:c.1499C>G	XP_011542271.1:p.Pro500Arg
XM_011543969.3:c.1499C>G	XP_011542271.1:p.Pro500Arg
XM_011543970.1:c.1478C>G	XP_011542272.1:p.Pro493Arg
XM_011543970.3:c.1478C>G	XP_011542272.1:p.Pro493Arg
XM_011543971.1:c.1556C>G	XP_011542273.1:p.Pro519Arg
XM_011543972.1:c.1445C>G	XP_011542274.1:p.Pro482Arg
XM_011543972.3:c.1445C>G	XP_011542274.1:p.Pro482Arg
XM_011543973.1:c.1502C>G	XP_011542275.1:p.Pro501Arg
XM_011543974.1:c.1580C>G	XP_011542276.1:p.Pro527Arg
XM_011543974.2:c.1580C>G	XP_011542276.1:p.Pro527Arg
XM_011543975.1:c.983C>G	XP_011542277.1:p.Pro328Arg
XM_011543975.2:c.983C>G	XP_011542277.1:p.Pro328Arg
XM_011543976.1:c.1793C>G	XP_011542278.1:p.Pro598Arg
XM_017029783.2:c.1499C>G	XP_016885272.1:p.Pro500Arg
XM_017029784.1:c.848C>G	XP_016885273.1:p.Pro283Arg
XM_017029785.1:c.590C>G	XP_016885274.1:p.Pro197Arg
XM_024452438.1:c.1634C>G	XP_024308206.1:p.Pro545Arg
XM_024452439.1:c.1211C>G	XP_024308207.1:p.Pro404Arg
XR_002958804.1:n.2106C>G
XR_949018.1:n.2170C>G