Canonical Allele Identifier: CA130685

Gene: KDM6A

Linked Data

• ClinVar Variation Id: 39993
• ClinVar RCV Id: RCV000033120 ; RCV002513317
• dbSNP Id: rs397514628
• COSMIC: COSM757235 ; COSM5049195 ; COSM5049196
• MyVariant Identifiers: chrX:g.44922694C>T (hg19) ; chrX:g.45063449C>T (hg38)
• PubMed: PMID:23076834

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45063449C>T , CM000685.2:g.45063449C>T	GRCh38
NC_000023.10:g.44922694C>T , CM000685.1:g.44922694C>T	GRCh37
NC_000023.9:g.44807638C>T	NCBI36
NG_016260.1:g.195272C>T , LRG_616:g.195272C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621147.5:c.1224C>T	ENSP00000478793.1:n.1224C>T
ENST00000682908.1:c.1455C>T	ENSP00000508158.1:n.1455C>T
ENST00000683021.1:c.1474C>T	ENSP00000507416.1:p.Arg492Ter
ENST00000683425.1:c.*1038C>T	ENSP00000507291.1:n.*1038C>T
ENST00000684352.1:c.1576C>T	ENSP00000508379.1:p.Arg526Ter
ENST00000377967.9:c.1555C>T	ENSP00000367203.4:p.Arg519Ter
ENST00000382899.9:c.1576C>T	ENSP00000372355.6:p.Arg526Ter
ENST00000536777.6:c.1420C>T	ENSP00000437405.3:p.Arg474Ter
ENST00000543216.6:c.1318C>T	ENSP00000443078.3:p.Arg440Ter
ENST00000611820.5:c.1711C>T MANE Select	ENSP00000483595.2:p.Arg571Ter
ENST00000674541.1:c.*843C>T	ENSP00000501919.1:n.*843C>T
ENST00000674564.1:c.1474C>T	ENSP00000502150.1:p.Arg492Ter
ENST00000674586.1:c.1633C>T	ENSP00000502660.1:p.Arg545Ter
ENST00000674659.1:c.*999C>T	ENSP00000502255.1:n.*999C>T
ENST00000674739.1:n.2613C>T
ENST00000674867.1:c.1417C>T	ENSP00000502060.1:p.Arg473Ter
ENST00000675157.1:n.1162C>T
ENST00000675182.1:n.1595C>T
ENST00000675440.1:n.1731C>T
ENST00000675514.1:c.1555C>T	ENSP00000502759.1:p.Arg519Ter
ENST00000675525.1:n.3677C>T
ENST00000675546.1:n.1922C>T
ENST00000675577.1:c.1453C>T	ENSP00000501855.1:p.Arg485Ter
ENST00000675816.1:n.1731C>T
ENST00000676062.1:c.1576C>T	ENSP00000502311.1:p.Arg526Ter
ENST00000676085.1:c.*741C>T	ENSP00000501752.1:n.*741C>T
ENST00000676133.1:c.*1145C>T	ENSP00000502586.1:n.*1145C>T
ENST00000676343.1:c.1576C>T	ENSP00000501761.1:p.Arg526Ter
ENST00000676389.1:n.1535C>T
ENST00000377967.8:c.1555C>T	ENSP00000367203.4:p.Arg519Ter
ENST00000382899.8:c.1504C>T	ENSP00000372355.5:p.Arg502Ter
ENST00000414389.5:c.347C>T
ENST00000433797.5:c.482C>T
ENST00000451692.5:c.444C>T
ENST00000536777.5:c.1348C>T	ENSP00000437405.2:p.Arg450Ter
ENST00000543216.5:c.1402C>T	ENSP00000443078.2:p.Arg468Ter
ENST00000611820.4:c.1639C>T	ENSP00000483595.1:p.Arg547Ter
ENST00000621147.4:c.1224C>T	ENSP00000478793.1:n.1224C>T
NM_001291415.1:c.1711C>T , LRG_616t1:c.1711C>T	NP_001278344.1:p.Arg571Ter
NM_001291416.1:c.1576C>T	NP_001278345.1:p.Arg526Ter
NM_001291417.1:c.1420C>T	NP_001278346.1:p.Arg474Ter
NM_001291418.1:c.1318C>T	NP_001278347.1:p.Arg440Ter
NM_001291421.1:c.667C>T	NP_001278350.1:p.Arg223Ter
NM_021140.3:c.1555C>T	NP_066963.2:p.Arg519Ter
NR_111960.1:n.1851C>T
XM_005272656.3:c.1609C>T	XP_005272713.1:p.Arg537Ter
XM_005272659.3:c.1453C>T	XP_005272716.1:p.Arg485Ter
XM_011543957.1:c.1768C>T	XP_011542259.1:p.Arg590Ter
XM_011543958.1:c.1711C>T	XP_011542260.1:p.Arg571Ter
XM_011543959.1:c.1666C>T	XP_011542261.1:p.Arg556Ter
XM_011543960.1:c.1768C>T	XP_011542262.1:p.Arg590Ter
XM_011543961.1:c.1633C>T	XP_011542263.1:p.Arg545Ter
XM_011543962.1:c.1612C>T	XP_011542264.1:p.Arg538Ter
XM_011543963.1:c.1576C>T	XP_011542265.1:p.Arg526Ter
XM_011543964.1:c.1555C>T	XP_011542266.1:p.Arg519Ter
XM_011543965.1:c.1531C>T	XP_011542267.1:p.Arg511Ter
XM_011543966.1:c.1510C>T	XP_011542268.1:p.Arg504Ter
XM_011543967.1:c.1612C>T	XP_011542269.1:p.Arg538Ter
XM_011543968.1:c.1477C>T	XP_011542270.1:p.Arg493Ter
XM_011543969.1:c.1474C>T	XP_011542271.1:p.Arg492Ter
XM_011543970.1:c.1453C>T	XP_011542272.1:p.Arg485Ter
XM_011543971.1:c.1531C>T	XP_011542273.1:p.Arg511Ter
XM_011543972.1:c.1420C>T	XP_011542274.1:p.Arg474Ter
XM_011543973.1:c.1477C>T	XP_011542275.1:p.Arg493Ter
XM_011543974.1:c.1555C>T	XP_011542276.1:p.Arg519Ter
XM_011543975.1:c.958C>T	XP_011542277.1:p.Arg320Ter
XM_011543976.1:c.1768C>T	XP_011542278.1:p.Arg590Ter
XR_949018.1:n.2145C>T
XM_005272656.5:c.1609C>T	XP_005272713.1:p.Arg537Ter
XM_005272659.5:c.1453C>T	XP_005272716.1:p.Arg485Ter
XM_011543958.3:c.1711C>T	XP_011542260.1:p.Arg571Ter
XM_011543963.3:c.1576C>T	XP_011542265.1:p.Arg526Ter
XM_011543964.3:c.1555C>T	XP_011542266.1:p.Arg519Ter
XM_011543969.3:c.1474C>T	XP_011542271.1:p.Arg492Ter
XM_011543970.3:c.1453C>T	XP_011542272.1:p.Arg485Ter
XM_011543972.3:c.1420C>T	XP_011542274.1:p.Arg474Ter
XM_011543974.2:c.1555C>T	XP_011542276.1:p.Arg519Ter
XM_011543975.2:c.958C>T	XP_011542277.1:p.Arg320Ter
XM_017029783.2:c.1474C>T	XP_016885272.1:p.Arg492Ter
XM_017029784.1:c.823C>T	XP_016885273.1:p.Arg275Ter
XM_017029785.1:c.565C>T	XP_016885274.1:p.Arg189Ter
XM_024452438.1:c.1609C>T	XP_024308206.1:p.Arg537Ter
XM_024452439.1:c.1186C>T	XP_024308207.1:p.Arg396Ter
XR_002958804.1:n.2081C>T
NM_001291415.2:c.1711C>T MANE Select	NP_001278344.1:p.Arg571Ter
NM_001291416.2:c.1576C>T	NP_001278345.1:p.Arg526Ter
NM_001291417.2:c.1420C>T	NP_001278346.1:p.Arg474Ter
NM_001291418.2:c.1318C>T	NP_001278347.1:p.Arg440Ter
NM_001291421.2:c.667C>T	NP_001278350.1:p.Arg223Ter
NM_021140.4:c.1555C>T	NP_066963.2:p.Arg519Ter
NR_111960.2:n.1838C>T