Canonical Allele Identifier: CA412777018

Gene: KDM6A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45110124C>T , CM000685.2:g.45110124C>T	GRCh38
NC_000023.10:g.44969369C>T , CM000685.1:g.44969369C>T	GRCh37
NC_000023.9:g.44854313C>T	NCBI36
NG_016260.1:g.241947C>T , LRG_616:g.241947C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001291415.2:c.4207C>T MANE Select	NP_001278344.1:p.Arg1403Ter
ENST00000611820.5:c.4207C>T MANE Select	ENSP00000483595.2:p.Arg1403Ter
NM_001291415.1:c.4207C>T , LRG_616t1:c.4207C>T	NP_001278344.1:p.Arg1403Ter
NM_001291416.1:c.4072C>T	NP_001278345.1:p.Arg1358Ter
NM_001291416.2:c.4072C>T	NP_001278345.1:p.Arg1358Ter
NM_001291417.1:c.3916C>T	NP_001278346.1:p.Arg1306Ter
NM_001291417.2:c.3916C>T	NP_001278346.1:p.Arg1306Ter
NM_001291418.1:c.3814C>T	NP_001278347.1:p.Arg1272Ter
NM_001291418.2:c.3814C>T	NP_001278347.1:p.Arg1272Ter
NM_001291421.1:c.3163C>T	NP_001278350.1:p.Arg1055Ter
NM_001291421.2:c.3163C>T	NP_001278350.1:p.Arg1055Ter
NM_021140.3:c.4051C>T	NP_066963.2:p.Arg1351Ter
NM_021140.4:c.4051C>T	NP_066963.2:p.Arg1351Ter
NR_111960.1:n.4315C>T
NR_111960.2:n.4302C>T
ENST00000377967.8:c.4051C>T	ENSP00000367203.4:p.Arg1351Ter
ENST00000377967.9:c.4051C>T	ENSP00000367203.4:p.Arg1351Ter
ENST00000382899.8:c.4000C>T	ENSP00000372355.5:p.Arg1334Ter
ENST00000382899.9:c.4072C>T	ENSP00000372355.6:p.Arg1358Ter
ENST00000414389.5:c.2843C>T
ENST00000431196.2:c.329C>T
ENST00000431196.3:c.329C>T
ENST00000433797.5:c.2978C>T
ENST00000479423.1:n.643C>T
ENST00000479423.2:n.3359C>T
ENST00000536777.5:c.3844C>T	ENSP00000437405.2:p.Arg1282Ter
ENST00000536777.6:c.3916C>T	ENSP00000437405.3:p.Arg1306Ter
ENST00000543216.5:c.*56C>T	ENSP00000443078.2:n.*56C>T
ENST00000543216.6:c.3814C>T	ENSP00000443078.3:p.Arg1272Ter
ENST00000611820.4:c.4135C>T	ENSP00000483595.1:p.Arg1379Ter
ENST00000621147.4:c.2721C>T	ENSP00000478793.1:n.2721C>T
ENST00000674541.1:c.*3339C>T	ENSP00000501919.1:n.*3339C>T
ENST00000674564.1:c.*56C>T	ENSP00000502150.1:n.*56C>T
ENST00000674586.1:c.4129C>T	ENSP00000502660.1:p.Arg1377Ter
ENST00000674659.1:c.*3289C>T	ENSP00000502255.1:n.*3289C>T
ENST00000674739.1:n.5109C>T
ENST00000674867.1:c.3913C>T	ENSP00000502060.1:p.Arg1305Ter
ENST00000675157.1:n.3658C>T
ENST00000675182.1:n.4091C>T
ENST00000675514.1:c.*602C>T	ENSP00000502759.1:n.*602C>T
ENST00000675525.1:n.6173C>T
ENST00000675546.1:n.10831C>T
ENST00000675577.1:c.3949C>T	ENSP00000501855.1:p.Arg1317Ter
ENST00000675816.1:n.5095C>T
ENST00000676062.1:c.*233C>T	ENSP00000502311.1:n.*233C>T
ENST00000676085.1:c.*3237C>T	ENSP00000501752.1:n.*3237C>T
ENST00000676133.1:c.*4104C>T	ENSP00000502586.1:n.*4104C>T
ENST00000676343.1:c.*159C>T	ENSP00000501761.1:n.*159C>T
ENST00000676389.1:n.4494C>T
ENST00000682908.1:c.3951C>T	ENSP00000508158.1:n.3951C>T
ENST00000683021.1:c.3970C>T	ENSP00000507416.1:p.Arg1324Ter
ENST00000683425.1:c.*3534C>T	ENSP00000507291.1:n.*3534C>T
ENST00000684352.1:c.3981C>T	ENSP00000508379.1:n.3981C>T
XM_005272656.3:c.4105C>T	XP_005272713.1:p.Arg1369Ter
XM_005272656.5:c.4105C>T	XP_005272713.1:p.Arg1369Ter
XM_005272659.3:c.3949C>T	XP_005272716.1:p.Arg1317Ter
XM_005272659.5:c.3949C>T	XP_005272716.1:p.Arg1317Ter
XM_011543957.1:c.4372C>T	XP_011542259.1:p.Arg1458Ter
XM_011543958.1:c.4315C>T	XP_011542260.1:p.Arg1439Ter
XM_011543958.3:c.4315C>T	XP_011542260.1:p.Arg1439Ter
XM_011543959.1:c.4270C>T	XP_011542261.1:p.Arg1424Ter
XM_011543960.1:c.4264C>T	XP_011542262.1:p.Arg1422Ter
XM_011543961.1:c.4237C>T	XP_011542263.1:p.Arg1413Ter
XM_011543962.1:c.4216C>T	XP_011542264.1:p.Arg1406Ter
XM_011543963.1:c.4180C>T	XP_011542265.1:p.Arg1394Ter
XM_011543963.3:c.4180C>T	XP_011542265.1:p.Arg1394Ter
XM_011543964.1:c.4159C>T	XP_011542266.1:p.Arg1387Ter
XM_011543964.3:c.4159C>T	XP_011542266.1:p.Arg1387Ter
XM_011543965.1:c.4135C>T	XP_011542267.1:p.Arg1379Ter
XM_011543966.1:c.4114C>T	XP_011542268.1:p.Arg1372Ter
XM_011543967.1:c.4108C>T	XP_011542269.1:p.Arg1370Ter
XM_011543968.1:c.4081C>T	XP_011542270.1:p.Arg1361Ter
XM_011543969.1:c.4078C>T	XP_011542271.1:p.Arg1360Ter
XM_011543969.3:c.4078C>T	XP_011542271.1:p.Arg1360Ter
XM_011543970.1:c.4057C>T	XP_011542272.1:p.Arg1353Ter
XM_011543970.3:c.4057C>T	XP_011542272.1:p.Arg1353Ter
XM_011543971.1:c.4027C>T	XP_011542273.1:p.Arg1343Ter
XM_011543972.1:c.4024C>T	XP_011542274.1:p.Arg1342Ter
XM_011543972.3:c.4024C>T	XP_011542274.1:p.Arg1342Ter
XM_011543973.1:c.3973C>T	XP_011542275.1:p.Arg1325Ter
XM_011543975.1:c.3562C>T	XP_011542277.1:p.Arg1188Ter
XM_011543975.2:c.3562C>T	XP_011542277.1:p.Arg1188Ter
XM_017029783.2:c.3970C>T	XP_016885272.1:p.Arg1324Ter
XM_017029784.1:c.3427C>T	XP_016885273.1:p.Arg1143Ter
XM_017029785.1:c.3061C>T	XP_016885274.1:p.Arg1021Ter
XM_024452438.1:c.4213C>T	XP_024308206.1:p.Arg1405Ter
XM_024452439.1:c.3790C>T	XP_024308207.1:p.Arg1264Ter
XR_002958804.1:n.4749C>T