Canonical Allele Identifier: CA200209

Gene: KDM6A

Linked Data

• ClinVar Variation Id: 183369
• ClinVar RCV Id: RCV000172946
• dbSNP Id: rs793888510
• COSMIC: COSM5696749 ; COSM5696750 ; COSM5696751
• MyVariant Identifiers: chrX:g.44949177T>C (hg19) ; chrX:g.45089932T>C (hg38)
• PubMed: PMID:25972376

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45089932T>C , CM000685.2:g.45089932T>C	GRCh38
NC_000023.10:g.44949177T>C , CM000685.1:g.44949177T>C	GRCh37
NC_000023.9:g.44834121T>C	NCBI36
NG_016260.1:g.221755T>C , LRG_616:g.221755T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682908.1:c.3636+2T>C	ENSP00000508158.1:n.3636+2T>C
ENST00000683021.1:c.3655+2T>C	ENSP00000507416.1:n.3655+2T>C
ENST00000683425.1:c.*3219+2T>C	ENSP00000507291.1:n.*3219+2T>C
ENST00000684352.1:c.3666+2T>C	ENSP00000508379.1:n.3666+2T>C
ENST00000377967.9:c.3736+2T>C	ENSP00000367203.4:n.3736+2T>C
ENST00000382899.9:c.3757+2T>C	ENSP00000372355.6:n.3757+2T>C
ENST00000536777.6:c.3601+2T>C	ENSP00000437405.3:n.3601+2T>C
ENST00000543216.6:c.3499+2T>C	ENSP00000443078.3:n.3499+2T>C
ENST00000611820.5:c.3892+2T>C MANE Select	ENSP00000483595.2:n.3892+2T>C
ENST00000674541.1:c.*3024+2T>C	ENSP00000501919.1:n.*3024+2T>C
ENST00000674564.1:c.3655+2T>C	ENSP00000502150.1:n.3655+2T>C
ENST00000674586.1:c.3814+2T>C	ENSP00000502660.1:n.3814+2T>C
ENST00000674659.1:c.*2974+2T>C	ENSP00000502255.1:n.*2974+2T>C
ENST00000674739.1:n.4794+2T>C
ENST00000674867.1:c.3598+2T>C	ENSP00000502060.1:n.3598+2T>C
ENST00000675157.1:n.3343+2T>C
ENST00000675182.1:n.3776+2T>C
ENST00000675514.1:c.*287+2T>C	ENSP00000502759.1:n.*287+2T>C
ENST00000675525.1:n.5858+2T>C
ENST00000675546.1:n.10516+2T>C
ENST00000675577.1:c.3634+2T>C	ENSP00000501855.1:n.3634+2T>C
ENST00000675816.1:n.3912+2T>C
ENST00000676062.1:c.3757+2T>C	ENSP00000502311.1:n.3757+2T>C
ENST00000676085.1:c.*2922+2T>C	ENSP00000501752.1:n.*2922+2T>C
ENST00000676133.1:c.*3789+2T>C	ENSP00000502586.1:n.*3789+2T>C
ENST00000676343.1:c.3757+2T>C	ENSP00000501761.1:n.3757+2T>C
ENST00000676389.1:n.4179+2T>C
ENST00000377967.8:c.3736+2T>C	ENSP00000367203.4:n.3736+2T>C
ENST00000382899.8:c.3685+2T>C	ENSP00000372355.5:n.3685+2T>C
ENST00000414389.5:c.2528+2T>C
ENST00000433797.5:c.2663+2T>C
ENST00000536777.5:c.3529+2T>C	ENSP00000437405.2:n.3529+2T>C
ENST00000543216.5:c.3583+2T>C	ENSP00000443078.2:n.3583+2T>C
ENST00000611820.4:c.3820+2T>C	ENSP00000483595.1:n.3820+2T>C
ENST00000621147.4:c.2595+11439T>C	ENSP00000478793.1:n.2595+11439T>C
NM_001291415.1:c.3892+2T>C , LRG_616t1:c.3892+2T>C	NP_001278344.1:n.3892+2T>C
NM_001291416.1:c.3757+2T>C	NP_001278345.1:n.3757+2T>C
NM_001291417.1:c.3601+2T>C	NP_001278346.1:n.3601+2T>C
NM_001291418.1:c.3499+2T>C	NP_001278347.1:n.3499+2T>C
NM_001291421.1:c.2848+2T>C	NP_001278350.1:n.2848+2T>C
NM_021140.3:c.3736+2T>C	NP_066963.2:n.3736+2T>C
NR_111960.1:n.4032+2T>C
XM_005272656.3:c.3790+2T>C	XP_005272713.1:n.3790+2T>C
XM_005272659.3:c.3634+2T>C	XP_005272716.1:n.3634+2T>C
XM_011543957.1:c.3949+2T>C	XP_011542259.1:n.3949+2T>C
XM_011543958.1:c.3892+2T>C	XP_011542260.1:n.3892+2T>C
XM_011543959.1:c.3847+2T>C	XP_011542261.1:n.3847+2T>C
XM_011543960.1:c.3949+2T>C	XP_011542262.1:n.3949+2T>C
XM_011543961.1:c.3814+2T>C	XP_011542263.1:n.3814+2T>C
XM_011543962.1:c.3793+2T>C	XP_011542264.1:n.3793+2T>C
XM_011543963.1:c.3757+2T>C	XP_011542265.1:n.3757+2T>C
XM_011543964.1:c.3736+2T>C	XP_011542266.1:n.3736+2T>C
XM_011543965.1:c.3712+2T>C	XP_011542267.1:n.3712+2T>C
XM_011543966.1:c.3691+2T>C	XP_011542268.1:n.3691+2T>C
XM_011543967.1:c.3793+2T>C	XP_011542269.1:n.3793+2T>C
XM_011543968.1:c.3658+2T>C	XP_011542270.1:n.3658+2T>C
XM_011543969.1:c.3655+2T>C	XP_011542271.1:n.3655+2T>C
XM_011543970.1:c.3634+2T>C	XP_011542272.1:n.3634+2T>C
XM_011543971.1:c.3712+2T>C	XP_011542273.1:n.3712+2T>C
XM_011543972.1:c.3601+2T>C	XP_011542274.1:n.3601+2T>C
XM_011543973.1:c.3658+2T>C	XP_011542275.1:n.3658+2T>C
XM_011543974.1:c.3736+2T>C	XP_011542276.1:n.3736+2T>C
XM_011543975.1:c.3139+2T>C	XP_011542277.1:n.3139+2T>C
XR_949018.1:n.4326+2T>C
XM_005272656.5:c.3790+2T>C	XP_005272713.1:n.3790+2T>C
XM_005272659.5:c.3634+2T>C	XP_005272716.1:n.3634+2T>C
XM_011543958.3:c.3892+2T>C	XP_011542260.1:n.3892+2T>C
XM_011543963.3:c.3757+2T>C	XP_011542265.1:n.3757+2T>C
XM_011543964.3:c.3736+2T>C	XP_011542266.1:n.3736+2T>C
XM_011543969.3:c.3655+2T>C	XP_011542271.1:n.3655+2T>C
XM_011543970.3:c.3634+2T>C	XP_011542272.1:n.3634+2T>C
XM_011543972.3:c.3601+2T>C	XP_011542274.1:n.3601+2T>C
XM_011543974.2:c.3736+2T>C	XP_011542276.1:n.3736+2T>C
XM_011543975.2:c.3139+2T>C	XP_011542277.1:n.3139+2T>C
XM_017029783.2:c.3655+2T>C	XP_016885272.1:n.3655+2T>C
XM_017029784.1:c.3004+2T>C	XP_016885273.1:n.3004+2T>C
XM_017029785.1:c.2746+2T>C	XP_016885274.1:n.2746+2T>C
XM_024452438.1:c.3790+2T>C	XP_024308206.1:n.3790+2T>C
XM_024452439.1:c.3367+2T>C	XP_024308207.1:n.3367+2T>C
XR_002958804.1:n.4262+2T>C
NM_001291415.2:c.3892+2T>C MANE Select	NP_001278344.1:n.3892+2T>C
NM_001291416.2:c.3757+2T>C	NP_001278345.1:n.3757+2T>C
NM_001291417.2:c.3601+2T>C	NP_001278346.1:n.3601+2T>C
NM_001291418.2:c.3499+2T>C	NP_001278347.1:n.3499+2T>C
NM_001291421.2:c.2848+2T>C	NP_001278350.1:n.2848+2T>C
NM_021140.4:c.3736+2T>C	NP_066963.2:n.3736+2T>C
NR_111960.2:n.4019+2T>C