Canonical Allele Identifier: CA412801240

Gene: KDM6A

Linked Data

• ClinVar Variation Id: 471948
• ClinVar RCV Id: RCV000540641
• dbSNP Id: rs1556341546
• MyVariant Identifiers: chrX:g.44938468C>T (hg19) ; chrX:g.45079223C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45079223C>T , CM000685.2:g.45079223C>T	GRCh38
NC_000023.10:g.44938468C>T , CM000685.1:g.44938468C>T	GRCh37
NC_000023.9:g.44823412C>T	NCBI36
NG_016260.1:g.211046C>T , LRG_616:g.211046C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682908.1:c.2916C>T	ENSP00000508158.1:n.2916C>T
ENST00000683021.1:c.2935C>T	ENSP00000507416.1:p.Gln979Ter
ENST00000683425.1:c.*2499C>T	ENSP00000507291.1:n.*2499C>T
ENST00000684352.1:c.2946C>T	ENSP00000508379.1:n.2946C>T
ENST00000377967.9:c.3016C>T	ENSP00000367203.4:p.Gln1006Ter
ENST00000382899.9:c.3037C>T	ENSP00000372355.6:p.Gln1013Ter
ENST00000536777.6:c.2881C>T	ENSP00000437405.3:p.Gln961Ter
ENST00000543216.6:c.2779C>T	ENSP00000443078.3:p.Gln927Ter
ENST00000611820.5:c.3172C>T MANE Select	ENSP00000483595.2:p.Gln1058Ter
ENST00000674541.1:c.*2304C>T	ENSP00000501919.1:n.*2304C>T
ENST00000674564.1:c.2935C>T	ENSP00000502150.1:p.Gln979Ter
ENST00000674586.1:c.3094C>T	ENSP00000502660.1:p.Gln1032Ter
ENST00000674659.1:c.*2382+718C>T	ENSP00000502255.1:n.*2382+718C>T
ENST00000674739.1:n.4074C>T
ENST00000674867.1:c.2878C>T	ENSP00000502060.1:p.Gln960Ter
ENST00000675157.1:n.2623C>T
ENST00000675182.1:n.3056C>T
ENST00000675440.1:n.3192C>T
ENST00000675514.1:c.3016C>T	ENSP00000502759.1:p.Gln1006Ter
ENST00000675525.1:n.5138C>T
ENST00000675546.1:n.9722C>T
ENST00000675577.1:c.2914C>T	ENSP00000501855.1:p.Gln972Ter
ENST00000675816.1:n.3192C>T
ENST00000676026.1:n.645C>T
ENST00000676062.1:c.3037C>T	ENSP00000502311.1:p.Gln1013Ter
ENST00000676085.1:c.*2202C>T	ENSP00000501752.1:n.*2202C>T
ENST00000676133.1:c.*3069C>T	ENSP00000502586.1:n.*3069C>T
ENST00000676343.1:c.3037C>T	ENSP00000501761.1:p.Gln1013Ter
ENST00000676389.1:n.3459C>T
ENST00000377967.8:c.3016C>T	ENSP00000367203.4:p.Gln1006Ter
ENST00000382899.8:c.2965C>T	ENSP00000372355.5:p.Gln989Ter
ENST00000414389.5:c.1808C>T
ENST00000433797.5:c.1943C>T
ENST00000536777.5:c.2809C>T	ENSP00000437405.2:p.Gln937Ter
ENST00000543216.5:c.2863C>T	ENSP00000443078.2:p.Gln955Ter
ENST00000611820.4:c.3100C>T	ENSP00000483595.1:p.Gln1034Ter
ENST00000621147.4:c.2595+730C>T	ENSP00000478793.1:n.2595+730C>T
NM_001291415.1:c.3172C>T , LRG_616t1:c.3172C>T	NP_001278344.1:p.Gln1058Ter
NM_001291416.1:c.3037C>T	NP_001278345.1:p.Gln1013Ter
NM_001291417.1:c.2881C>T	NP_001278346.1:p.Gln961Ter
NM_001291418.1:c.2779C>T	NP_001278347.1:p.Gln927Ter
NM_001291421.1:c.2128C>T	NP_001278350.1:p.Gln710Ter
NM_021140.3:c.3016C>T	NP_066963.2:p.Gln1006Ter
NR_111960.1:n.3312C>T
XM_005272656.3:c.3070C>T	XP_005272713.1:p.Gln1024Ter
XM_005272659.3:c.2914C>T	XP_005272716.1:p.Gln972Ter
XM_011543957.1:c.3229C>T	XP_011542259.1:p.Gln1077Ter
XM_011543958.1:c.3172C>T	XP_011542260.1:p.Gln1058Ter
XM_011543959.1:c.3127C>T	XP_011542261.1:p.Gln1043Ter
XM_011543960.1:c.3229C>T	XP_011542262.1:p.Gln1077Ter
XM_011543961.1:c.3094C>T	XP_011542263.1:p.Gln1032Ter
XM_011543962.1:c.3073C>T	XP_011542264.1:p.Gln1025Ter
XM_011543963.1:c.3037C>T	XP_011542265.1:p.Gln1013Ter
XM_011543964.1:c.3016C>T	XP_011542266.1:p.Gln1006Ter
XM_011543965.1:c.2992C>T	XP_011542267.1:p.Gln998Ter
XM_011543966.1:c.2971C>T	XP_011542268.1:p.Gln991Ter
XM_011543967.1:c.3073C>T	XP_011542269.1:p.Gln1025Ter
XM_011543968.1:c.2938C>T	XP_011542270.1:p.Gln980Ter
XM_011543969.1:c.2935C>T	XP_011542271.1:p.Gln979Ter
XM_011543970.1:c.2914C>T	XP_011542272.1:p.Gln972Ter
XM_011543971.1:c.2992C>T	XP_011542273.1:p.Gln998Ter
XM_011543972.1:c.2881C>T	XP_011542274.1:p.Gln961Ter
XM_011543973.1:c.2938C>T	XP_011542275.1:p.Gln980Ter
XM_011543974.1:c.3016C>T	XP_011542276.1:p.Gln1006Ter
XM_011543975.1:c.2419C>T	XP_011542277.1:p.Gln807Ter
XM_011543976.1:c.3229C>T	XP_011542278.1:p.Gln1077Ter
XR_949018.1:n.3606C>T
XM_005272656.5:c.3070C>T	XP_005272713.1:p.Gln1024Ter
XM_005272659.5:c.2914C>T	XP_005272716.1:p.Gln972Ter
XM_011543958.3:c.3172C>T	XP_011542260.1:p.Gln1058Ter
XM_011543963.3:c.3037C>T	XP_011542265.1:p.Gln1013Ter
XM_011543964.3:c.3016C>T	XP_011542266.1:p.Gln1006Ter
XM_011543969.3:c.2935C>T	XP_011542271.1:p.Gln979Ter
XM_011543970.3:c.2914C>T	XP_011542272.1:p.Gln972Ter
XM_011543972.3:c.2881C>T	XP_011542274.1:p.Gln961Ter
XM_011543974.2:c.3016C>T	XP_011542276.1:p.Gln1006Ter
XM_011543975.2:c.2419C>T	XP_011542277.1:p.Gln807Ter
XM_017029783.2:c.2935C>T	XP_016885272.1:p.Gln979Ter
XM_017029784.1:c.2284C>T	XP_016885273.1:p.Gln762Ter
XM_017029785.1:c.2026C>T	XP_016885274.1:p.Gln676Ter
XM_024452438.1:c.3070C>T	XP_024308206.1:p.Gln1024Ter
XM_024452439.1:c.2647C>T	XP_024308207.1:p.Gln883Ter
XR_002958804.1:n.3542C>T
NM_001291415.2:c.3172C>T MANE Select	NP_001278344.1:p.Gln1058Ter
NM_001291416.2:c.3037C>T	NP_001278345.1:p.Gln1013Ter
NM_001291417.2:c.2881C>T	NP_001278346.1:p.Gln961Ter
NM_001291418.2:c.2779C>T	NP_001278347.1:p.Gln927Ter
NM_001291421.2:c.2128C>T	NP_001278350.1:p.Gln710Ter
NM_021140.4:c.3016C>T	NP_066963.2:p.Gln1006Ter
NR_111960.2:n.3299C>T