Canonical Allele Identifier: CA412790369

Gene: KDM6A

Linked Data

• ClinVar Variation Id: 2582237
• ClinVar RCV Id: RCV003332938
• dbSNP Id: rs2147997903
• COSMIC: COSM3733889 ; COSM3733890 ; COSM3733891
• MyVariant Identifiers: chrX:g.44922970C>T (hg19) ; chrX:g.45063725C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45063725C>T , CM000685.2:g.45063725C>T	GRCh38
NC_000023.10:g.44922970C>T , CM000685.1:g.44922970C>T	GRCh37
NC_000023.9:g.44807914C>T	NCBI36
NG_016260.1:g.195548C>T , LRG_616:g.195548C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621147.5:c.1500C>T	ENSP00000478793.1:n.1500C>T
ENST00000682908.1:c.1731C>T	ENSP00000508158.1:n.1731C>T
ENST00000683021.1:c.1750C>T	ENSP00000507416.1:p.Gln584Ter
ENST00000683425.1:c.*1314C>T	ENSP00000507291.1:n.*1314C>T
ENST00000684352.1:c.1852C>T	ENSP00000508379.1:p.Gln618Ter
ENST00000377967.9:c.1831C>T	ENSP00000367203.4:p.Gln611Ter
ENST00000382899.9:c.1852C>T	ENSP00000372355.6:p.Gln618Ter
ENST00000536777.6:c.1696C>T	ENSP00000437405.3:p.Gln566Ter
ENST00000543216.6:c.1594C>T	ENSP00000443078.3:p.Gln532Ter
ENST00000611820.5:c.1987C>T MANE Select	ENSP00000483595.2:p.Gln663Ter
ENST00000674541.1:c.*1119C>T	ENSP00000501919.1:n.*1119C>T
ENST00000674564.1:c.1750C>T	ENSP00000502150.1:p.Gln584Ter
ENST00000674586.1:c.1909C>T	ENSP00000502660.1:p.Gln637Ter
ENST00000674659.1:c.*1275C>T	ENSP00000502255.1:n.*1275C>T
ENST00000674739.1:n.2889C>T
ENST00000674867.1:c.1693C>T	ENSP00000502060.1:p.Gln565Ter
ENST00000675157.1:n.1438C>T
ENST00000675182.1:n.1871C>T
ENST00000675440.1:n.2007C>T
ENST00000675514.1:c.1831C>T	ENSP00000502759.1:p.Gln611Ter
ENST00000675525.1:n.3953C>T
ENST00000675546.1:n.2198C>T
ENST00000675577.1:c.1729C>T	ENSP00000501855.1:p.Gln577Ter
ENST00000675816.1:n.2007C>T
ENST00000676062.1:c.1852C>T	ENSP00000502311.1:p.Gln618Ter
ENST00000676085.1:c.*1017C>T	ENSP00000501752.1:n.*1017C>T
ENST00000676133.1:c.*1421C>T	ENSP00000502586.1:n.*1421C>T
ENST00000676343.1:c.1852C>T	ENSP00000501761.1:p.Gln618Ter
ENST00000676389.1:n.1811C>T
ENST00000377967.8:c.1831C>T	ENSP00000367203.4:p.Gln611Ter
ENST00000382899.8:c.1780C>T	ENSP00000372355.5:p.Gln594Ter
ENST00000414389.5:c.623C>T
ENST00000433797.5:c.758C>T
ENST00000536777.5:c.1624C>T	ENSP00000437405.2:p.Gln542Ter
ENST00000543216.5:c.1678C>T	ENSP00000443078.2:p.Gln560Ter
ENST00000611820.4:c.1915C>T	ENSP00000483595.1:p.Gln639Ter
ENST00000621147.4:c.1500C>T	ENSP00000478793.1:n.1500C>T
NM_001291415.1:c.1987C>T , LRG_616t1:c.1987C>T	NP_001278344.1:p.Gln663Ter
NM_001291416.1:c.1852C>T	NP_001278345.1:p.Gln618Ter
NM_001291417.1:c.1696C>T	NP_001278346.1:p.Gln566Ter
NM_001291418.1:c.1594C>T	NP_001278347.1:p.Gln532Ter
NM_001291421.1:c.943C>T	NP_001278350.1:p.Gln315Ter
NM_021140.3:c.1831C>T	NP_066963.2:p.Gln611Ter
NR_111960.1:n.2127C>T
XM_005272656.3:c.1885C>T	XP_005272713.1:p.Gln629Ter
XM_005272659.3:c.1729C>T	XP_005272716.1:p.Gln577Ter
XM_011543957.1:c.2044C>T	XP_011542259.1:p.Gln682Ter
XM_011543958.1:c.1987C>T	XP_011542260.1:p.Gln663Ter
XM_011543959.1:c.1942C>T	XP_011542261.1:p.Gln648Ter
XM_011543960.1:c.2044C>T	XP_011542262.1:p.Gln682Ter
XM_011543961.1:c.1909C>T	XP_011542263.1:p.Gln637Ter
XM_011543962.1:c.1888C>T	XP_011542264.1:p.Gln630Ter
XM_011543963.1:c.1852C>T	XP_011542265.1:p.Gln618Ter
XM_011543964.1:c.1831C>T	XP_011542266.1:p.Gln611Ter
XM_011543965.1:c.1807C>T	XP_011542267.1:p.Gln603Ter
XM_011543966.1:c.1786C>T	XP_011542268.1:p.Gln596Ter
XM_011543967.1:c.1888C>T	XP_011542269.1:p.Gln630Ter
XM_011543968.1:c.1753C>T	XP_011542270.1:p.Gln585Ter
XM_011543969.1:c.1750C>T	XP_011542271.1:p.Gln584Ter
XM_011543970.1:c.1729C>T	XP_011542272.1:p.Gln577Ter
XM_011543971.1:c.1807C>T	XP_011542273.1:p.Gln603Ter
XM_011543972.1:c.1696C>T	XP_011542274.1:p.Gln566Ter
XM_011543973.1:c.1753C>T	XP_011542275.1:p.Gln585Ter
XM_011543974.1:c.1831C>T	XP_011542276.1:p.Gln611Ter
XM_011543975.1:c.1234C>T	XP_011542277.1:p.Gln412Ter
XM_011543976.1:c.2044C>T	XP_011542278.1:p.Gln682Ter
XR_949018.1:n.2421C>T
XM_005272656.5:c.1885C>T	XP_005272713.1:p.Gln629Ter
XM_005272659.5:c.1729C>T	XP_005272716.1:p.Gln577Ter
XM_011543958.3:c.1987C>T	XP_011542260.1:p.Gln663Ter
XM_011543963.3:c.1852C>T	XP_011542265.1:p.Gln618Ter
XM_011543964.3:c.1831C>T	XP_011542266.1:p.Gln611Ter
XM_011543969.3:c.1750C>T	XP_011542271.1:p.Gln584Ter
XM_011543970.3:c.1729C>T	XP_011542272.1:p.Gln577Ter
XM_011543972.3:c.1696C>T	XP_011542274.1:p.Gln566Ter
XM_011543974.2:c.1831C>T	XP_011542276.1:p.Gln611Ter
XM_011543975.2:c.1234C>T	XP_011542277.1:p.Gln412Ter
XM_017029783.2:c.1750C>T	XP_016885272.1:p.Gln584Ter
XM_017029784.1:c.1099C>T	XP_016885273.1:p.Gln367Ter
XM_017029785.1:c.841C>T	XP_016885274.1:p.Gln281Ter
XM_024452438.1:c.1885C>T	XP_024308206.1:p.Gln629Ter
XM_024452439.1:c.1462C>T	XP_024308207.1:p.Gln488Ter
XR_002958804.1:n.2357C>T
NM_001291415.2:c.1987C>T MANE Select	NP_001278344.1:p.Gln663Ter
NM_001291416.2:c.1852C>T	NP_001278345.1:p.Gln618Ter
NM_001291417.2:c.1696C>T	NP_001278346.1:p.Gln566Ter
NM_001291418.2:c.1594C>T	NP_001278347.1:p.Gln532Ter
NM_001291421.2:c.943C>T	NP_001278350.1:p.Gln315Ter
NM_021140.4:c.1831C>T	NP_066963.2:p.Gln611Ter
NR_111960.2:n.2114C>T