Canonical Allele Identifier: CA412783182

Gene: KDM6A

Linked Data

• ClinVar Variation Id: 2582252
• ClinVar RCV Id: RCV003332953
• dbSNP Id: rs2044234392
• MyVariant Identifiers: chrX:g.44919300C>T (hg19) ; chrX:g.45060055C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45060055C>T , CM000685.2:g.45060055C>T	GRCh38
NC_000023.10:g.44919300C>T , CM000685.1:g.44919300C>T	GRCh37
NC_000023.9:g.44804244C>T	NCBI36
NG_016260.1:g.191878C>T , LRG_616:g.191878C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621147.5:c.1100+589C>T	ENSP00000478793.1:n.1100+589C>T
ENST00000682908.1:c.1074-554C>T	ENSP00000508158.1:n.1074-554C>T
ENST00000683021.1:c.1195-554C>T	ENSP00000507416.1:n.1195-554C>T
ENST00000683425.1:c.*657-554C>T	ENSP00000507291.1:n.*657-554C>T
ENST00000684352.1:c.1195-554C>T	ENSP00000508379.1:n.1195-554C>T
ENST00000377967.9:c.1228C>T	ENSP00000367203.4:p.Gln410Ter
ENST00000382899.9:c.1195-554C>T	ENSP00000372355.6:n.1195-554C>T
ENST00000536777.6:c.1194+589C>T	ENSP00000437405.3:n.1194+589C>T
ENST00000543216.6:c.1194+589C>T	ENSP00000443078.3:n.1194+589C>T
ENST00000611820.5:c.1228C>T MANE Select	ENSP00000483595.2:p.Gln410Ter
ENST00000674541.1:c.*617+589C>T	ENSP00000501919.1:n.*617+589C>T
ENST00000674564.1:c.1195-554C>T	ENSP00000502150.1:n.1195-554C>T
ENST00000674586.1:c.1252-554C>T	ENSP00000502660.1:n.1252-554C>T
ENST00000674659.1:c.*618-554C>T	ENSP00000502255.1:n.*618-554C>T
ENST00000674739.1:n.1559-554C>T
ENST00000674867.1:c.1036-554C>T	ENSP00000502060.1:n.1036-554C>T
ENST00000675157.1:n.1038+589C>T
ENST00000675182.1:n.1112C>T
ENST00000675440.1:n.1350-554C>T
ENST00000675514.1:c.1228C>T	ENSP00000502759.1:p.Gln410Ter
ENST00000675525.1:n.3296-554C>T
ENST00000675577.1:c.1228C>T	ENSP00000501855.1:p.Gln410Ter
ENST00000675816.1:n.1350-554C>T
ENST00000676062.1:c.1195-554C>T	ENSP00000502311.1:n.1195-554C>T
ENST00000676085.1:c.*617+589C>T	ENSP00000501752.1:n.*617+589C>T
ENST00000676133.1:c.*764-554C>T	ENSP00000502586.1:n.*764-554C>T
ENST00000676343.1:c.1195-554C>T	ENSP00000501761.1:n.1195-554C>T
ENST00000676389.1:n.1154-554C>T
ENST00000377967.8:c.1228C>T	ENSP00000367203.4:p.Gln410Ter
ENST00000382899.8:c.1123-554C>T	ENSP00000372355.5:n.1123-554C>T
ENST00000414389.5:c.121+589C>T
ENST00000451692.5:c.219C>T
ENST00000536777.5:c.1122+589C>T	ENSP00000437405.2:n.1122+589C>T
ENST00000543216.5:c.1123-554C>T	ENSP00000443078.2:n.1123-554C>T
ENST00000611820.4:c.1156C>T	ENSP00000483595.1:p.Gln386Ter
ENST00000621147.4:c.1100+589C>T	ENSP00000478793.1:n.1100+589C>T
NM_001291415.1:c.1228C>T , LRG_616t1:c.1228C>T	NP_001278344.1:p.Gln410Ter
NM_001291416.1:c.1195-554C>T	NP_001278345.1:n.1195-554C>T
NM_001291417.1:c.1194+589C>T	NP_001278346.1:n.1194+589C>T
NM_001291418.1:c.1194+589C>T	NP_001278347.1:n.1194+589C>T
NM_001291421.1:c.441+589C>T	NP_001278350.1:n.441+589C>T
NM_021140.3:c.1228C>T	NP_066963.2:p.Gln410Ter
NR_111960.1:n.1572-554C>T
XM_005272656.3:c.1228C>T	XP_005272713.1:p.Gln410Ter
XM_005272659.3:c.1228C>T	XP_005272716.1:p.Gln410Ter
XM_011543957.1:c.1285C>T	XP_011542259.1:p.Gln429Ter
XM_011543958.1:c.1228C>T	XP_011542260.1:p.Gln410Ter
XM_011543959.1:c.1285C>T	XP_011542261.1:p.Gln429Ter
XM_011543960.1:c.1285C>T	XP_011542262.1:p.Gln429Ter
XM_011543961.1:c.1252-554C>T	XP_011542263.1:n.1252-554C>T
XM_011543962.1:c.1285C>T	XP_011542264.1:p.Gln429Ter
XM_011543963.1:c.1195-554C>T	XP_011542265.1:n.1195-554C>T
XM_011543964.1:c.1228C>T	XP_011542266.1:p.Gln410Ter
XM_011543965.1:c.1252-554C>T	XP_011542267.1:n.1252-554C>T
XM_011543966.1:c.1285C>T	XP_011542268.1:p.Gln429Ter
XM_011543967.1:c.1285C>T	XP_011542269.1:p.Gln429Ter
XM_011543968.1:c.1251+589C>T	XP_011542270.1:n.1251+589C>T
XM_011543969.1:c.1195-554C>T	XP_011542271.1:n.1195-554C>T
XM_011543970.1:c.1228C>T	XP_011542272.1:p.Gln410Ter
XM_011543971.1:c.1252-554C>T	XP_011542273.1:n.1252-554C>T
XM_011543972.1:c.1194+589C>T	XP_011542274.1:n.1194+589C>T
XM_011543973.1:c.1251+589C>T	XP_011542275.1:n.1251+589C>T
XM_011543974.1:c.1228C>T	XP_011542276.1:p.Gln410Ter
XM_011543975.1:c.475C>T	XP_011542277.1:p.Gln159Ter
XM_011543976.1:c.1285C>T	XP_011542278.1:p.Gln429Ter
XR_949018.1:n.1662C>T
XM_005272656.5:c.1228C>T	XP_005272713.1:p.Gln410Ter
XM_005272659.5:c.1228C>T	XP_005272716.1:p.Gln410Ter
XM_011543958.3:c.1228C>T	XP_011542260.1:p.Gln410Ter
XM_011543963.3:c.1195-554C>T	XP_011542265.1:n.1195-554C>T
XM_011543964.3:c.1228C>T	XP_011542266.1:p.Gln410Ter
XM_011543969.3:c.1195-554C>T	XP_011542271.1:n.1195-554C>T
XM_011543970.3:c.1228C>T	XP_011542272.1:p.Gln410Ter
XM_011543972.3:c.1194+589C>T	XP_011542274.1:n.1194+589C>T
XM_011543974.2:c.1228C>T	XP_011542276.1:p.Gln410Ter
XM_011543975.2:c.475C>T	XP_011542277.1:p.Gln159Ter
XM_017029783.2:c.1195-554C>T	XP_016885272.1:n.1195-554C>T
XM_017029784.1:c.442-554C>T	XP_016885273.1:n.442-554C>T
XM_017029785.1:c.441+589C>T	XP_016885274.1:n.441+589C>T
XM_024452438.1:c.1228C>T	XP_024308206.1:p.Gln410Ter
XM_024452439.1:c.703C>T	XP_024308207.1:p.Gln235Ter
XR_002958804.1:n.1598C>T
NM_001291415.2:c.1228C>T MANE Select	NP_001278344.1:p.Gln410Ter
NM_001291416.2:c.1195-554C>T	NP_001278345.1:n.1195-554C>T
NM_001291417.2:c.1194+589C>T	NP_001278346.1:n.1194+589C>T
NM_001291418.2:c.1194+589C>T	NP_001278347.1:n.1194+589C>T
NM_001291421.2:c.441+589C>T	NP_001278350.1:n.441+589C>T
NM_021140.4:c.1228C>T	NP_066963.2:p.Gln410Ter
NR_111960.2:n.1559-554C>T