Canonical Allele Identifier: CA278963

Gene: KDM6A

Linked Data

• ClinVar Variation Id: 216950
• ClinVar RCV Id: RCV000197668 ; RCV002262794
• dbSNP Id: rs863224886
• COSMIC: COSM28780 ; COSM2965473 ; COSM4168315
• MyVariant Identifiers: chrX:g.44950066C>T (hg19) ; chrX:g.45090821C>T (hg38)
• PubMed: PMID:25326637

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45090821C>T , CM000685.2:g.45090821C>T	GRCh38
NC_000023.10:g.44950066C>T , CM000685.1:g.44950066C>T	GRCh37
NC_000023.9:g.44835010C>T	NCBI36
NG_016260.1:g.222644C>T , LRG_616:g.222644C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682908.1:c.3735C>T	ENSP00000508158.1:n.3735C>T
ENST00000683021.1:c.3754C>T	ENSP00000507416.1:p.Arg1252Ter
ENST00000683425.1:c.*3318C>T	ENSP00000507291.1:n.*3318C>T
ENST00000684352.1:c.3765C>T	ENSP00000508379.1:n.3765C>T
ENST00000377967.9:c.3835C>T	ENSP00000367203.4:p.Arg1279Ter
ENST00000382899.9:c.3856C>T	ENSP00000372355.6:p.Arg1286Ter
ENST00000431196.3:c.5C>T
ENST00000536777.6:c.3700C>T	ENSP00000437405.3:p.Arg1234Ter
ENST00000543216.6:c.3598C>T	ENSP00000443078.3:p.Arg1200Ter
ENST00000611820.5:c.3991C>T MANE Select	ENSP00000483595.2:p.Arg1331Ter
ENST00000674541.1:c.*3123C>T	ENSP00000501919.1:n.*3123C>T
ENST00000674564.1:c.3754C>T	ENSP00000502150.1:p.Arg1252Ter
ENST00000674586.1:c.3913C>T	ENSP00000502660.1:p.Arg1305Ter
ENST00000674659.1:c.*3073C>T	ENSP00000502255.1:n.*3073C>T
ENST00000674739.1:n.4893C>T
ENST00000674867.1:c.3697C>T	ENSP00000502060.1:p.Arg1233Ter
ENST00000675157.1:n.3442C>T
ENST00000675182.1:n.3875C>T
ENST00000675514.1:c.*386C>T	ENSP00000502759.1:n.*386C>T
ENST00000675525.1:n.5957C>T
ENST00000675546.1:n.10615C>T
ENST00000675577.1:c.3733C>T	ENSP00000501855.1:p.Arg1245Ter
ENST00000675816.1:n.4011C>T
ENST00000676062.1:c.3856C>T	ENSP00000502311.1:p.Arg1286Ter
ENST00000676085.1:c.*3021C>T	ENSP00000501752.1:n.*3021C>T
ENST00000676133.1:c.*3888C>T	ENSP00000502586.1:n.*3888C>T
ENST00000676343.1:c.3757+891C>T	ENSP00000501761.1:n.3757+891C>T
ENST00000676389.1:n.4278C>T
ENST00000377967.8:c.3835C>T	ENSP00000367203.4:p.Arg1279Ter
ENST00000382899.8:c.3784C>T	ENSP00000372355.5:p.Arg1262Ter
ENST00000414389.5:c.2627C>T
ENST00000431196.2:c.5C>T
ENST00000433797.5:c.2762C>T
ENST00000536777.5:c.3628C>T	ENSP00000437405.2:p.Arg1210Ter
ENST00000543216.5:c.3682C>T	ENSP00000443078.2:p.Arg1228Ter
ENST00000611820.4:c.3919C>T	ENSP00000483595.1:p.Arg1307Ter
ENST00000621147.4:c.2595+12328C>T	ENSP00000478793.1:n.2595+12328C>T
NM_001291415.1:c.3991C>T , LRG_616t1:c.3991C>T	NP_001278344.1:p.Arg1331Ter
NM_001291416.1:c.3856C>T	NP_001278345.1:p.Arg1286Ter
NM_001291417.1:c.3700C>T	NP_001278346.1:p.Arg1234Ter
NM_001291418.1:c.3598C>T	NP_001278347.1:p.Arg1200Ter
NM_001291421.1:c.2947C>T	NP_001278350.1:p.Arg983Ter
NM_021140.3:c.3835C>T	NP_066963.2:p.Arg1279Ter
NR_111960.1:n.4131C>T
XM_005272656.3:c.3889C>T	XP_005272713.1:p.Arg1297Ter
XM_005272659.3:c.3733C>T	XP_005272716.1:p.Arg1245Ter
XM_011543957.1:c.4048C>T	XP_011542259.1:p.Arg1350Ter
XM_011543958.1:c.3991C>T	XP_011542260.1:p.Arg1331Ter
XM_011543959.1:c.3946C>T	XP_011542261.1:p.Arg1316Ter
XM_011543960.1:c.4048C>T	XP_011542262.1:p.Arg1350Ter
XM_011543961.1:c.3913C>T	XP_011542263.1:p.Arg1305Ter
XM_011543962.1:c.3892C>T	XP_011542264.1:p.Arg1298Ter
XM_011543963.1:c.3856C>T	XP_011542265.1:p.Arg1286Ter
XM_011543964.1:c.3835C>T	XP_011542266.1:p.Arg1279Ter
XM_011543965.1:c.3811C>T	XP_011542267.1:p.Arg1271Ter
XM_011543966.1:c.3790C>T	XP_011542268.1:p.Arg1264Ter
XM_011543967.1:c.3892C>T	XP_011542269.1:p.Arg1298Ter
XM_011543968.1:c.3757C>T	XP_011542270.1:p.Arg1253Ter
XM_011543969.1:c.3754C>T	XP_011542271.1:p.Arg1252Ter
XM_011543970.1:c.3733C>T	XP_011542272.1:p.Arg1245Ter
XM_011543971.1:c.3811C>T	XP_011542273.1:p.Arg1271Ter
XM_011543972.1:c.3700C>T	XP_011542274.1:p.Arg1234Ter
XM_011543973.1:c.3757C>T	XP_011542275.1:p.Arg1253Ter
XM_011543974.1:c.3835C>T	XP_011542276.1:p.Arg1279Ter
XM_011543975.1:c.3238C>T	XP_011542277.1:p.Arg1080Ter
XR_949018.1:n.4425C>T
XM_005272656.5:c.3889C>T	XP_005272713.1:p.Arg1297Ter
XM_005272659.5:c.3733C>T	XP_005272716.1:p.Arg1245Ter
XM_011543958.3:c.3991C>T	XP_011542260.1:p.Arg1331Ter
XM_011543963.3:c.3856C>T	XP_011542265.1:p.Arg1286Ter
XM_011543964.3:c.3835C>T	XP_011542266.1:p.Arg1279Ter
XM_011543969.3:c.3754C>T	XP_011542271.1:p.Arg1252Ter
XM_011543970.3:c.3733C>T	XP_011542272.1:p.Arg1245Ter
XM_011543972.3:c.3700C>T	XP_011542274.1:p.Arg1234Ter
XM_011543974.2:c.3835C>T	XP_011542276.1:p.Arg1279Ter
XM_011543975.2:c.3238C>T	XP_011542277.1:p.Arg1080Ter
XM_017029783.2:c.3754C>T	XP_016885272.1:p.Arg1252Ter
XM_017029784.1:c.3103C>T	XP_016885273.1:p.Arg1035Ter
XM_017029785.1:c.2845C>T	XP_016885274.1:p.Arg949Ter
XM_024452438.1:c.3889C>T	XP_024308206.1:p.Arg1297Ter
XM_024452439.1:c.3466C>T	XP_024308207.1:p.Arg1156Ter
XR_002958804.1:n.4361C>T
NM_001291415.2:c.3991C>T MANE Select	NP_001278344.1:p.Arg1331Ter
NM_001291416.2:c.3856C>T	NP_001278345.1:p.Arg1286Ter
NM_001291417.2:c.3700C>T	NP_001278346.1:p.Arg1234Ter
NM_001291418.2:c.3598C>T	NP_001278347.1:p.Arg1200Ter
NM_001291421.2:c.2947C>T	NP_001278350.1:p.Arg983Ter
NM_021140.4:c.3835C>T	NP_066963.2:p.Arg1279Ter
NR_111960.2:n.4118C>T