Canonical Allele Identifier: CA413021378

Gene: KDM6A

Linked Data

• ClinVar Variation Id: 2133290
• ClinVar RCV Id: RCV003064000
• COSMIC: COSM255013 ; COSM4005085 ; COSM4005086
• MyVariant Identifiers: chrX:g.44833925C>T (hg19) ; chrX:g.44974680C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.44974680C>T , CM000685.2:g.44974680C>T	GRCh38
NC_000023.10:g.44833925C>T , CM000685.1:g.44833925C>T	GRCh37
NC_000023.9:g.44718869C>T	NCBI36
NG_016260.1:g.106503C>T , LRG_616:g.106503C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621147.5:c.349C>T	ENSP00000478793.1:p.Gln117Ter
ENST00000682908.1:c.349C>T	ENSP00000508158.1:p.Gln117Ter
ENST00000683021.1:c.349C>T	ENSP00000507416.1:p.Gln117Ter
ENST00000683425.1:c.240C>T	ENSP00000507291.1:p.Thr80=
ENST00000684352.1:c.349C>T	ENSP00000508379.1:p.Gln117Ter
ENST00000377967.9:c.349C>T	ENSP00000367203.4:p.Gln117Ter
ENST00000382899.9:c.349C>T	ENSP00000372355.6:p.Gln117Ter
ENST00000536777.6:c.349C>T	ENSP00000437405.3:p.Gln117Ter
ENST00000543216.6:c.349C>T	ENSP00000443078.3:p.Gln117Ter
ENST00000611820.5:c.349C>T MANE Select	ENSP00000483595.2:p.Gln117Ter
ENST00000674541.1:c.349C>T	ENSP00000501919.1:p.Gln117Ter
ENST00000674564.1:c.349C>T	ENSP00000502150.1:p.Gln117Ter
ENST00000674586.1:c.349C>T	ENSP00000502660.1:p.Gln117Ter
ENST00000674659.1:c.349C>T	ENSP00000502255.1:p.Gln117Ter
ENST00000674739.1:n.713C>T
ENST00000674867.1:c.226-36281C>T	ENSP00000502060.1:n.226-36281C>T
ENST00000675157.1:n.314C>T
ENST00000675182.1:n.233C>T
ENST00000675440.1:n.504C>T
ENST00000675514.1:c.349C>T	ENSP00000502759.1:p.Gln117Ter
ENST00000675577.1:c.349C>T	ENSP00000501855.1:p.Gln117Ter
ENST00000675816.1:n.504C>T
ENST00000676062.1:c.349C>T	ENSP00000502311.1:p.Gln117Ter
ENST00000676085.1:c.349C>T	ENSP00000501752.1:p.Gln117Ter
ENST00000676133.1:c.334+13288C>T	ENSP00000502586.1:n.334+13288C>T
ENST00000676343.1:c.349C>T	ENSP00000501761.1:p.Gln117Ter
ENST00000676389.1:n.308C>T
ENST00000377967.8:c.349C>T	ENSP00000367203.4:p.Gln117Ter
ENST00000382899.8:c.277C>T	ENSP00000372355.5:p.Gln93Ter
ENST00000475233.1:n.397C>T
ENST00000536777.5:c.277C>T	ENSP00000437405.2:p.Gln93Ter
ENST00000543216.5:c.277C>T	ENSP00000443078.2:p.Gln93Ter
ENST00000611820.4:c.277C>T	ENSP00000483595.1:p.Gln93Ter
ENST00000621147.4:c.349C>T	ENSP00000478793.1:p.Gln117Ter
NM_001291415.1:c.349C>T , LRG_616t1:c.349C>T	NP_001278344.1:p.Gln117Ter
NM_001291416.1:c.349C>T	NP_001278345.1:p.Gln117Ter
NM_001291417.1:c.349C>T	NP_001278346.1:p.Gln117Ter
NM_001291418.1:c.349C>T	NP_001278347.1:p.Gln117Ter
NM_001291421.1:c.-284C>T	NP_001278350.1:n.-284C>T
NM_021140.3:c.349C>T	NP_066963.2:p.Gln117Ter
NR_111960.1:n.726C>T
XM_005272656.3:c.349C>T	XP_005272713.1:p.Gln117Ter
XM_005272659.3:c.349C>T	XP_005272716.1:p.Gln117Ter
XM_011543957.1:c.349C>T	XP_011542259.1:p.Gln117Ter
XM_011543958.1:c.349C>T	XP_011542260.1:p.Gln117Ter
XM_011543959.1:c.349C>T	XP_011542261.1:p.Gln117Ter
XM_011543960.1:c.349C>T	XP_011542262.1:p.Gln117Ter
XM_011543961.1:c.349C>T	XP_011542263.1:p.Gln117Ter
XM_011543962.1:c.349C>T	XP_011542264.1:p.Gln117Ter
XM_011543963.1:c.349C>T	XP_011542265.1:p.Gln117Ter
XM_011543964.1:c.349C>T	XP_011542266.1:p.Gln117Ter
XM_011543965.1:c.349C>T	XP_011542267.1:p.Gln117Ter
XM_011543966.1:c.349C>T	XP_011542268.1:p.Gln117Ter
XM_011543967.1:c.349C>T	XP_011542269.1:p.Gln117Ter
XM_011543968.1:c.349C>T	XP_011542270.1:p.Gln117Ter
XM_011543969.1:c.349C>T	XP_011542271.1:p.Gln117Ter
XM_011543970.1:c.349C>T	XP_011542272.1:p.Gln117Ter
XM_011543971.1:c.349C>T	XP_011542273.1:p.Gln117Ter
XM_011543972.1:c.349C>T	XP_011542274.1:p.Gln117Ter
XM_011543973.1:c.349C>T	XP_011542275.1:p.Gln117Ter
XM_011543974.1:c.349C>T	XP_011542276.1:p.Gln117Ter
XM_011543975.1:c.-284C>T	XP_011542277.1:n.-284C>T
XM_011543976.1:c.349C>T	XP_011542278.1:p.Gln117Ter
XR_949018.1:n.726C>T
XM_005272656.5:c.349C>T	XP_005272713.1:p.Gln117Ter
XM_005272659.5:c.349C>T	XP_005272716.1:p.Gln117Ter
XM_011543958.3:c.349C>T	XP_011542260.1:p.Gln117Ter
XM_011543963.3:c.349C>T	XP_011542265.1:p.Gln117Ter
XM_011543964.3:c.349C>T	XP_011542266.1:p.Gln117Ter
XM_011543969.3:c.349C>T	XP_011542271.1:p.Gln117Ter
XM_011543970.3:c.349C>T	XP_011542272.1:p.Gln117Ter
XM_011543972.3:c.349C>T	XP_011542274.1:p.Gln117Ter
XM_011543974.2:c.349C>T	XP_011542276.1:p.Gln117Ter
XM_011543975.2:c.-284C>T	XP_011542277.1:n.-284C>T
XM_017029783.2:c.349C>T	XP_016885272.1:p.Gln117Ter
XM_017029784.1:c.-284C>T	XP_016885273.1:n.-284C>T
XM_017029785.1:c.-284C>T	XP_016885274.1:n.-284C>T
XM_024452438.1:c.349C>T	XP_024308206.1:p.Gln117Ter
XM_024452439.1:c.-177C>T	XP_024308207.1:n.-177C>T
XR_002958804.1:n.719C>T
NM_001291415.2:c.349C>T MANE Select	NP_001278344.1:p.Gln117Ter
NM_001291416.2:c.349C>T	NP_001278345.1:p.Gln117Ter
NM_001291417.2:c.349C>T	NP_001278346.1:p.Gln117Ter
NM_001291418.2:c.349C>T	NP_001278347.1:p.Gln117Ter
NM_001291421.2:c.-284C>T	NP_001278350.1:n.-284C>T
NM_021140.4:c.349C>T	NP_066963.2:p.Gln117Ter
NR_111960.2:n.713C>T