Canonical Allele Identifier: CA412808311

Gene: KDM6A

Linked Data

• ClinVar Variation Id: 523806
• ClinVar RCV Id: RCV000627275 ; RCV003148808
• dbSNP Id: rs1556357314
• MyVariant Identifiers: chrX:g.44950028C>A (hg19) ; chrX:g.45090783C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45090783C>A , CM000685.2:g.45090783C>A	GRCh38
NC_000023.10:g.44950028C>A , CM000685.1:g.44950028C>A	GRCh37
NC_000023.9:g.44834972C>A	NCBI36
NG_016260.1:g.222606C>A , LRG_616:g.222606C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682908.1:c.3697C>A	ENSP00000508158.1:n.3697C>A
ENST00000683021.1:c.3716C>A	ENSP00000507416.1:p.Ser1239Ter
ENST00000683425.1:c.*3280C>A	ENSP00000507291.1:n.*3280C>A
ENST00000684352.1:c.3727C>A	ENSP00000508379.1:n.3727C>A
ENST00000377967.9:c.3797C>A	ENSP00000367203.4:p.Ser1266Ter
ENST00000382899.9:c.3818C>A	ENSP00000372355.6:p.Ser1273Ter
ENST00000536777.6:c.3662C>A	ENSP00000437405.3:p.Ser1221Ter
ENST00000543216.6:c.3560C>A	ENSP00000443078.3:p.Ser1187Ter
ENST00000611820.5:c.3953C>A MANE Select	ENSP00000483595.2:p.Ser1318Ter
ENST00000674541.1:c.*3085C>A	ENSP00000501919.1:n.*3085C>A
ENST00000674564.1:c.3716C>A	ENSP00000502150.1:p.Ser1239Ter
ENST00000674586.1:c.3875C>A	ENSP00000502660.1:p.Ser1292Ter
ENST00000674659.1:c.*3035C>A	ENSP00000502255.1:n.*3035C>A
ENST00000674739.1:n.4855C>A
ENST00000674867.1:c.3659C>A	ENSP00000502060.1:p.Ser1220Ter
ENST00000675157.1:n.3404C>A
ENST00000675182.1:n.3837C>A
ENST00000675514.1:c.*348C>A	ENSP00000502759.1:n.*348C>A
ENST00000675525.1:n.5919C>A
ENST00000675546.1:n.10577C>A
ENST00000675577.1:c.3695C>A	ENSP00000501855.1:p.Ser1232Ter
ENST00000675816.1:n.3973C>A
ENST00000676062.1:c.3818C>A	ENSP00000502311.1:p.Ser1273Ter
ENST00000676085.1:c.*2983C>A	ENSP00000501752.1:n.*2983C>A
ENST00000676133.1:c.*3850C>A	ENSP00000502586.1:n.*3850C>A
ENST00000676343.1:c.3757+853C>A	ENSP00000501761.1:n.3757+853C>A
ENST00000676389.1:n.4240C>A
ENST00000377967.8:c.3797C>A	ENSP00000367203.4:p.Ser1266Ter
ENST00000382899.8:c.3746C>A	ENSP00000372355.5:p.Ser1249Ter
ENST00000414389.5:c.2589C>A
ENST00000433797.5:c.2724C>A
ENST00000536777.5:c.3590C>A	ENSP00000437405.2:p.Ser1197Ter
ENST00000543216.5:c.3644C>A	ENSP00000443078.2:p.Ser1215Ter
ENST00000611820.4:c.3881C>A	ENSP00000483595.1:p.Ser1294Ter
ENST00000621147.4:c.2595+12290C>A	ENSP00000478793.1:n.2595+12290C>A
NM_001291415.1:c.3953C>A , LRG_616t1:c.3953C>A	NP_001278344.1:p.Ser1318Ter
NM_001291416.1:c.3818C>A	NP_001278345.1:p.Ser1273Ter
NM_001291417.1:c.3662C>A	NP_001278346.1:p.Ser1221Ter
NM_001291418.1:c.3560C>A	NP_001278347.1:p.Ser1187Ter
NM_001291421.1:c.2909C>A	NP_001278350.1:p.Ser970Ter
NM_021140.3:c.3797C>A	NP_066963.2:p.Ser1266Ter
NR_111960.1:n.4093C>A
XM_005272656.3:c.3851C>A	XP_005272713.1:p.Ser1284Ter
XM_005272659.3:c.3695C>A	XP_005272716.1:p.Ser1232Ter
XM_011543957.1:c.4010C>A	XP_011542259.1:p.Ser1337Ter
XM_011543958.1:c.3953C>A	XP_011542260.1:p.Ser1318Ter
XM_011543959.1:c.3908C>A	XP_011542261.1:p.Ser1303Ter
XM_011543960.1:c.4010C>A	XP_011542262.1:p.Ser1337Ter
XM_011543961.1:c.3875C>A	XP_011542263.1:p.Ser1292Ter
XM_011543962.1:c.3854C>A	XP_011542264.1:p.Ser1285Ter
XM_011543963.1:c.3818C>A	XP_011542265.1:p.Ser1273Ter
XM_011543964.1:c.3797C>A	XP_011542266.1:p.Ser1266Ter
XM_011543965.1:c.3773C>A	XP_011542267.1:p.Ser1258Ter
XM_011543966.1:c.3752C>A	XP_011542268.1:p.Ser1251Ter
XM_011543967.1:c.3854C>A	XP_011542269.1:p.Ser1285Ter
XM_011543968.1:c.3719C>A	XP_011542270.1:p.Ser1240Ter
XM_011543969.1:c.3716C>A	XP_011542271.1:p.Ser1239Ter
XM_011543970.1:c.3695C>A	XP_011542272.1:p.Ser1232Ter
XM_011543971.1:c.3773C>A	XP_011542273.1:p.Ser1258Ter
XM_011543972.1:c.3662C>A	XP_011542274.1:p.Ser1221Ter
XM_011543973.1:c.3719C>A	XP_011542275.1:p.Ser1240Ter
XM_011543974.1:c.3797C>A	XP_011542276.1:p.Ser1266Ter
XM_011543975.1:c.3200C>A	XP_011542277.1:p.Ser1067Ter
XR_949018.1:n.4387C>A
XM_005272656.5:c.3851C>A	XP_005272713.1:p.Ser1284Ter
XM_005272659.5:c.3695C>A	XP_005272716.1:p.Ser1232Ter
XM_011543958.3:c.3953C>A	XP_011542260.1:p.Ser1318Ter
XM_011543963.3:c.3818C>A	XP_011542265.1:p.Ser1273Ter
XM_011543964.3:c.3797C>A	XP_011542266.1:p.Ser1266Ter
XM_011543969.3:c.3716C>A	XP_011542271.1:p.Ser1239Ter
XM_011543970.3:c.3695C>A	XP_011542272.1:p.Ser1232Ter
XM_011543972.3:c.3662C>A	XP_011542274.1:p.Ser1221Ter
XM_011543974.2:c.3797C>A	XP_011542276.1:p.Ser1266Ter
XM_011543975.2:c.3200C>A	XP_011542277.1:p.Ser1067Ter
XM_017029783.2:c.3716C>A	XP_016885272.1:p.Ser1239Ter
XM_017029784.1:c.3065C>A	XP_016885273.1:p.Ser1022Ter
XM_017029785.1:c.2807C>A	XP_016885274.1:p.Ser936Ter
XM_024452438.1:c.3851C>A	XP_024308206.1:p.Ser1284Ter
XM_024452439.1:c.3428C>A	XP_024308207.1:p.Ser1143Ter
XR_002958804.1:n.4323C>A
NM_001291415.2:c.3953C>A MANE Select	NP_001278344.1:p.Ser1318Ter
NM_001291416.2:c.3818C>A	NP_001278345.1:p.Ser1273Ter
NM_001291417.2:c.3662C>A	NP_001278346.1:p.Ser1221Ter
NM_001291418.2:c.3560C>A	NP_001278347.1:p.Ser1187Ter
NM_001291421.2:c.2909C>A	NP_001278350.1:p.Ser970Ter
NM_021140.4:c.3797C>A	NP_066963.2:p.Ser1266Ter
NR_111960.2:n.4080C>A