Canonical Allele Identifier: CA412806633

Gene: KDM6A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45089778C>T , CM000685.2:g.45089778C>T	GRCh38
NC_000023.10:g.44949023C>T , CM000685.1:g.44949023C>T	GRCh37
NC_000023.9:g.44833967C>T	NCBI36
NG_016260.1:g.221601C>T , LRG_616:g.221601C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001291415.2:c.3740C>T MANE Select	NP_001278344.1:p.Pro1247Leu
ENST00000611820.5:c.3740C>T MANE Select	ENSP00000483595.2:p.Pro1247Leu
NM_001291415.1:c.3740C>T , LRG_616t1:c.3740C>T	NP_001278344.1:p.Pro1247Leu
NM_001291416.1:c.3605C>T	NP_001278345.1:p.Pro1202Leu
NM_001291416.2:c.3605C>T	NP_001278345.1:p.Pro1202Leu
NM_001291417.1:c.3449C>T	NP_001278346.1:p.Pro1150Leu
NM_001291417.2:c.3449C>T	NP_001278346.1:p.Pro1150Leu
NM_001291418.1:c.3347C>T	NP_001278347.1:p.Pro1116Leu
NM_001291418.2:c.3347C>T	NP_001278347.1:p.Pro1116Leu
NM_001291421.1:c.2696C>T	NP_001278350.1:p.Pro899Leu
NM_001291421.2:c.2696C>T	NP_001278350.1:p.Pro899Leu
NM_021140.3:c.3584C>T	NP_066963.2:p.Pro1195Leu
NM_021140.4:c.3584C>T	NP_066963.2:p.Pro1195Leu
NR_111960.1:n.3880C>T
NR_111960.2:n.3867C>T
ENST00000377967.8:c.3584C>T	ENSP00000367203.4:p.Pro1195Leu
ENST00000377967.9:c.3584C>T	ENSP00000367203.4:p.Pro1195Leu
ENST00000382899.8:c.3533C>T	ENSP00000372355.5:p.Pro1178Leu
ENST00000382899.9:c.3605C>T	ENSP00000372355.6:p.Pro1202Leu
ENST00000414389.5:c.2376C>T
ENST00000433797.5:c.2511C>T
ENST00000536777.5:c.3377C>T	ENSP00000437405.2:p.Pro1126Leu
ENST00000536777.6:c.3449C>T	ENSP00000437405.3:p.Pro1150Leu
ENST00000543216.5:c.3431C>T	ENSP00000443078.2:p.Pro1144Leu
ENST00000543216.6:c.3347C>T	ENSP00000443078.3:p.Pro1116Leu
ENST00000611820.4:c.3668C>T	ENSP00000483595.1:p.Pro1223Leu
ENST00000621147.4:c.2595+11285C>T	ENSP00000478793.1:n.2595+11285C>T
ENST00000674541.1:c.*2872C>T	ENSP00000501919.1:n.*2872C>T
ENST00000674564.1:c.3503C>T	ENSP00000502150.1:p.Pro1168Leu
ENST00000674586.1:c.3662C>T	ENSP00000502660.1:p.Pro1221Leu
ENST00000674659.1:c.*2822C>T	ENSP00000502255.1:n.*2822C>T
ENST00000674739.1:n.4642C>T
ENST00000674867.1:c.3446C>T	ENSP00000502060.1:p.Pro1149Leu
ENST00000675157.1:n.3191C>T
ENST00000675182.1:n.3624C>T
ENST00000675514.1:c.*135C>T	ENSP00000502759.1:n.*135C>T
ENST00000675525.1:n.5706C>T
ENST00000675546.1:n.10364C>T
ENST00000675577.1:c.3482C>T	ENSP00000501855.1:p.Pro1161Leu
ENST00000675816.1:n.3760C>T
ENST00000676062.1:c.3605C>T	ENSP00000502311.1:p.Pro1202Leu
ENST00000676085.1:c.*2770C>T	ENSP00000501752.1:n.*2770C>T
ENST00000676133.1:c.*3637C>T	ENSP00000502586.1:n.*3637C>T
ENST00000676343.1:c.3605C>T	ENSP00000501761.1:p.Pro1202Leu
ENST00000676389.1:n.4027C>T
ENST00000682908.1:c.3484C>T	ENSP00000508158.1:n.3484C>T
ENST00000683021.1:c.3503C>T	ENSP00000507416.1:p.Pro1168Leu
ENST00000683425.1:c.*3067C>T	ENSP00000507291.1:n.*3067C>T
ENST00000684352.1:c.3514C>T	ENSP00000508379.1:n.3514C>T
XM_005272656.3:c.3638C>T	XP_005272713.1:p.Pro1213Leu
XM_005272656.5:c.3638C>T	XP_005272713.1:p.Pro1213Leu
XM_005272659.3:c.3482C>T	XP_005272716.1:p.Pro1161Leu
XM_005272659.5:c.3482C>T	XP_005272716.1:p.Pro1161Leu
XM_011543957.1:c.3797C>T	XP_011542259.1:p.Pro1266Leu
XM_011543958.1:c.3740C>T	XP_011542260.1:p.Pro1247Leu
XM_011543958.3:c.3740C>T	XP_011542260.1:p.Pro1247Leu
XM_011543959.1:c.3695C>T	XP_011542261.1:p.Pro1232Leu
XM_011543960.1:c.3797C>T	XP_011542262.1:p.Pro1266Leu
XM_011543961.1:c.3662C>T	XP_011542263.1:p.Pro1221Leu
XM_011543962.1:c.3641C>T	XP_011542264.1:p.Pro1214Leu
XM_011543963.1:c.3605C>T	XP_011542265.1:p.Pro1202Leu
XM_011543963.3:c.3605C>T	XP_011542265.1:p.Pro1202Leu
XM_011543964.1:c.3584C>T	XP_011542266.1:p.Pro1195Leu
XM_011543964.3:c.3584C>T	XP_011542266.1:p.Pro1195Leu
XM_011543965.1:c.3560C>T	XP_011542267.1:p.Pro1187Leu
XM_011543966.1:c.3539C>T	XP_011542268.1:p.Pro1180Leu
XM_011543967.1:c.3641C>T	XP_011542269.1:p.Pro1214Leu
XM_011543968.1:c.3506C>T	XP_011542270.1:p.Pro1169Leu
XM_011543969.1:c.3503C>T	XP_011542271.1:p.Pro1168Leu
XM_011543969.3:c.3503C>T	XP_011542271.1:p.Pro1168Leu
XM_011543970.1:c.3482C>T	XP_011542272.1:p.Pro1161Leu
XM_011543970.3:c.3482C>T	XP_011542272.1:p.Pro1161Leu
XM_011543971.1:c.3560C>T	XP_011542273.1:p.Pro1187Leu
XM_011543972.1:c.3449C>T	XP_011542274.1:p.Pro1150Leu
XM_011543972.3:c.3449C>T	XP_011542274.1:p.Pro1150Leu
XM_011543973.1:c.3506C>T	XP_011542275.1:p.Pro1169Leu
XM_011543974.1:c.3584C>T	XP_011542276.1:p.Pro1195Leu
XM_011543974.2:c.3584C>T	XP_011542276.1:p.Pro1195Leu
XM_011543975.1:c.2987C>T	XP_011542277.1:p.Pro996Leu
XM_011543975.2:c.2987C>T	XP_011542277.1:p.Pro996Leu
XM_011543976.1:c.*25C>T	XP_011542278.1:n.*25C>T
XM_017029783.2:c.3503C>T	XP_016885272.1:p.Pro1168Leu
XM_017029784.1:c.2852C>T	XP_016885273.1:p.Pro951Leu
XM_017029785.1:c.2594C>T	XP_016885274.1:p.Pro865Leu
XM_024452438.1:c.3638C>T	XP_024308206.1:p.Pro1213Leu
XM_024452439.1:c.3215C>T	XP_024308207.1:p.Pro1072Leu
XR_002958804.1:n.4110C>T
XR_949018.1:n.4174C>T