Canonical Allele Identifier: CA412787386

Gene: KDM6A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45062749G>T , CM000685.2:g.45062749G>T	GRCh38
NC_000023.10:g.44921994G>T , CM000685.1:g.44921994G>T	GRCh37
NC_000023.9:g.44806938G>T	NCBI36
NG_016260.1:g.194572G>T , LRG_616:g.194572G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001291415.2:c.1683+1G>T MANE Select	NP_001278344.1:n.1683+1G>T
ENST00000611820.5:c.1683+1G>T MANE Select	ENSP00000483595.2:n.1683+1G>T
NM_001291415.1:c.1683+1G>T , LRG_616t1:c.1683+1G>T	NP_001278344.1:n.1683+1G>T
NM_001291416.1:c.1548+1G>T	NP_001278345.1:n.1548+1G>T
NM_001291416.2:c.1548+1G>T	NP_001278345.1:n.1548+1G>T
NM_001291417.1:c.1392+1G>T	NP_001278346.1:n.1392+1G>T
NM_001291417.2:c.1392+1G>T	NP_001278346.1:n.1392+1G>T
NM_001291418.1:c.1291-673G>T	NP_001278347.1:n.1291-673G>T
NM_001291418.2:c.1291-673G>T	NP_001278347.1:n.1291-673G>T
NM_001291421.1:c.639+1G>T	NP_001278350.1:n.639+1G>T
NM_001291421.2:c.639+1G>T	NP_001278350.1:n.639+1G>T
NM_021140.3:c.1527+1G>T	NP_066963.2:n.1527+1G>T
NM_021140.4:c.1527+1G>T	NP_066963.2:n.1527+1G>T
NR_111960.1:n.1824-673G>T
NR_111960.2:n.1811-673G>T
ENST00000377967.8:c.1527+1G>T	ENSP00000367203.4:n.1527+1G>T
ENST00000377967.9:c.1527+1G>T	ENSP00000367203.4:n.1527+1G>T
ENST00000382899.8:c.1476+1G>T	ENSP00000372355.5:n.1476+1G>T
ENST00000382899.9:c.1548+1G>T	ENSP00000372355.6:n.1548+1G>T
ENST00000414389.5:c.319+1G>T
ENST00000433797.5:c.454+1G>T
ENST00000451692.5:c.417-673G>T
ENST00000536777.5:c.1320+1G>T	ENSP00000437405.2:n.1320+1G>T
ENST00000536777.6:c.1392+1G>T	ENSP00000437405.3:n.1392+1G>T
ENST00000543216.5:c.1375-673G>T	ENSP00000443078.2:n.1375-673G>T
ENST00000543216.6:c.1291-673G>T	ENSP00000443078.3:n.1291-673G>T
ENST00000611820.4:c.1611+1G>T	ENSP00000483595.1:n.1611+1G>T
ENST00000621147.4:c.1197-673G>T	ENSP00000478793.1:n.1197-673G>T
ENST00000621147.5:c.1197-673G>T	ENSP00000478793.1:n.1197-673G>T
ENST00000674541.1:c.*815+1G>T	ENSP00000501919.1:n.*815+1G>T
ENST00000674564.1:c.1447-673G>T	ENSP00000502150.1:n.1447-673G>T
ENST00000674586.1:c.1605+1G>T	ENSP00000502660.1:n.1605+1G>T
ENST00000674659.1:c.*971+1G>T	ENSP00000502255.1:n.*971+1G>T
ENST00000674739.1:n.1913G>T
ENST00000674867.1:c.1389+1G>T	ENSP00000502060.1:n.1389+1G>T
ENST00000675157.1:n.1135-673G>T
ENST00000675182.1:n.1567+1G>T
ENST00000675440.1:n.1703+1G>T
ENST00000675514.1:c.1527+1G>T	ENSP00000502759.1:n.1527+1G>T
ENST00000675525.1:n.3649+1G>T
ENST00000675546.1:n.1222G>T
ENST00000675577.1:c.1426-673G>T	ENSP00000501855.1:n.1426-673G>T
ENST00000675816.1:n.1703+1G>T
ENST00000676062.1:c.1548+1G>T	ENSP00000502311.1:n.1548+1G>T
ENST00000676085.1:c.*714-673G>T	ENSP00000501752.1:n.*714-673G>T
ENST00000676133.1:c.*1117+1G>T	ENSP00000502586.1:n.*1117+1G>T
ENST00000676343.1:c.1548+1G>T	ENSP00000501761.1:n.1548+1G>T
ENST00000676389.1:n.1507+1G>T
ENST00000682908.1:c.1427+1G>T	ENSP00000508158.1:n.1427+1G>T
ENST00000683021.1:c.1447-673G>T	ENSP00000507416.1:n.1447-673G>T
ENST00000683425.1:c.*1010+1G>T	ENSP00000507291.1:n.*1010+1G>T
ENST00000684352.1:c.1548+1G>T	ENSP00000508379.1:n.1548+1G>T
XM_005272656.3:c.1582-673G>T	XP_005272713.1:n.1582-673G>T
XM_005272656.5:c.1582-673G>T	XP_005272713.1:n.1582-673G>T
XM_005272659.3:c.1426-673G>T	XP_005272716.1:n.1426-673G>T
XM_005272659.5:c.1426-673G>T	XP_005272716.1:n.1426-673G>T
XM_011543957.1:c.1740+1G>T	XP_011542259.1:n.1740+1G>T
XM_011543958.1:c.1683+1G>T	XP_011542260.1:n.1683+1G>T
XM_011543958.3:c.1683+1G>T	XP_011542260.1:n.1683+1G>T
XM_011543959.1:c.1639-673G>T	XP_011542261.1:n.1639-673G>T
XM_011543960.1:c.1740+1G>T	XP_011542262.1:n.1740+1G>T
XM_011543961.1:c.1605+1G>T	XP_011542263.1:n.1605+1G>T
XM_011543962.1:c.1584+1G>T	XP_011542264.1:n.1584+1G>T
XM_011543963.1:c.1548+1G>T	XP_011542265.1:n.1548+1G>T
XM_011543963.3:c.1548+1G>T	XP_011542265.1:n.1548+1G>T
XM_011543964.1:c.1527+1G>T	XP_011542266.1:n.1527+1G>T
XM_011543964.3:c.1527+1G>T	XP_011542266.1:n.1527+1G>T
XM_011543965.1:c.1504-673G>T	XP_011542267.1:n.1504-673G>T
XM_011543966.1:c.1483-673G>T	XP_011542268.1:n.1483-673G>T
XM_011543967.1:c.1584+1G>T	XP_011542269.1:n.1584+1G>T
XM_011543968.1:c.1449+1G>T	XP_011542270.1:n.1449+1G>T
XM_011543969.1:c.1447-673G>T	XP_011542271.1:n.1447-673G>T
XM_011543969.3:c.1447-673G>T	XP_011542271.1:n.1447-673G>T
XM_011543970.1:c.1426-673G>T	XP_011542272.1:n.1426-673G>T
XM_011543970.3:c.1426-673G>T	XP_011542272.1:n.1426-673G>T
XM_011543971.1:c.1504-673G>T	XP_011542273.1:n.1504-673G>T
XM_011543972.1:c.1392+1G>T	XP_011542274.1:n.1392+1G>T
XM_011543972.3:c.1392+1G>T	XP_011542274.1:n.1392+1G>T
XM_011543973.1:c.1449+1G>T	XP_011542275.1:n.1449+1G>T
XM_011543974.1:c.1527+1G>T	XP_011542276.1:n.1527+1G>T
XM_011543974.2:c.1527+1G>T	XP_011542276.1:n.1527+1G>T
XM_011543975.1:c.930+1G>T	XP_011542277.1:n.930+1G>T
XM_011543975.2:c.930+1G>T	XP_011542277.1:n.930+1G>T
XM_011543976.1:c.1740+1G>T	XP_011542278.1:n.1740+1G>T
XM_017029783.2:c.1447-673G>T	XP_016885272.1:n.1447-673G>T
XM_017029784.1:c.795+1G>T	XP_016885273.1:n.795+1G>T
XM_017029785.1:c.538-673G>T	XP_016885274.1:n.538-673G>T
XM_024452438.1:c.1582-673G>T	XP_024308206.1:n.1582-673G>T
XM_024452439.1:c.1158+1G>T	XP_024308207.1:n.1158+1G>T
XR_002958804.1:n.2053+1G>T
XR_949018.1:n.2117+1G>T