Canonical Allele Identifier: CA412803276

Gene: KDM6A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45082758G>A , CM000685.2:g.45082758G>A	GRCh38
NC_000023.10:g.44942003G>A , CM000685.1:g.44942003G>A	GRCh37
NC_000023.9:g.44826947G>A	NCBI36
NG_016260.1:g.214581G>A , LRG_616:g.214581G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001291415.2:c.3409G>A MANE Select	NP_001278344.1:p.Gly1137Arg
ENST00000611820.5:c.3409G>A MANE Select	ENSP00000483595.2:p.Gly1137Arg
NM_001291415.1:c.3409G>A , LRG_616t1:c.3409G>A	NP_001278344.1:p.Gly1137Arg
NM_001291416.1:c.3274G>A	NP_001278345.1:p.Gly1092Arg
NM_001291416.2:c.3274G>A	NP_001278345.1:p.Gly1092Arg
NM_001291417.1:c.3118G>A	NP_001278346.1:p.Gly1040Arg
NM_001291417.2:c.3118G>A	NP_001278346.1:p.Gly1040Arg
NM_001291418.1:c.3016G>A	NP_001278347.1:p.Gly1006Arg
NM_001291418.2:c.3016G>A	NP_001278347.1:p.Gly1006Arg
NM_001291421.1:c.2365G>A	NP_001278350.1:p.Gly789Arg
NM_001291421.2:c.2365G>A	NP_001278350.1:p.Gly789Arg
NM_021140.3:c.3253G>A	NP_066963.2:p.Gly1085Arg
NM_021140.4:c.3253G>A	NP_066963.2:p.Gly1085Arg
NR_111960.1:n.3549G>A
NR_111960.2:n.3536G>A
ENST00000377967.8:c.3253G>A	ENSP00000367203.4:p.Gly1085Arg
ENST00000377967.9:c.3253G>A	ENSP00000367203.4:p.Gly1085Arg
ENST00000382899.8:c.3202G>A	ENSP00000372355.5:p.Gly1068Arg
ENST00000382899.9:c.3274G>A	ENSP00000372355.6:p.Gly1092Arg
ENST00000414389.5:c.2045G>A
ENST00000433797.5:c.2180G>A
ENST00000484732.1:n.99G>A
ENST00000485072.5:n.287G>A
ENST00000536777.5:c.3046G>A	ENSP00000437405.2:p.Gly1016Arg
ENST00000536777.6:c.3118G>A	ENSP00000437405.3:p.Gly1040Arg
ENST00000543216.5:c.3100G>A	ENSP00000443078.2:p.Gly1034Arg
ENST00000543216.6:c.3016G>A	ENSP00000443078.3:p.Gly1006Arg
ENST00000611820.4:c.3337G>A	ENSP00000483595.1:p.Gly1113Arg
ENST00000621147.4:c.2595+4265G>A	ENSP00000478793.1:n.2595+4265G>A
ENST00000674541.1:c.*2541G>A	ENSP00000501919.1:n.*2541G>A
ENST00000674564.1:c.3172G>A	ENSP00000502150.1:p.Gly1058Arg
ENST00000674586.1:c.3331G>A	ENSP00000502660.1:p.Gly1111Arg
ENST00000674659.1:c.*2491G>A	ENSP00000502255.1:n.*2491G>A
ENST00000674739.1:n.4311G>A
ENST00000674867.1:c.3115G>A	ENSP00000502060.1:p.Gly1039Arg
ENST00000675157.1:n.2860G>A
ENST00000675182.1:n.3293G>A
ENST00000675514.1:c.3253G>A	ENSP00000502759.1:p.Gly1085Arg
ENST00000675525.1:n.5375G>A
ENST00000675546.1:n.10033G>A
ENST00000675577.1:c.3151G>A	ENSP00000501855.1:p.Gly1051Arg
ENST00000675816.1:n.3429G>A
ENST00000676026.1:n.956G>A
ENST00000676062.1:c.3274G>A	ENSP00000502311.1:p.Gly1092Arg
ENST00000676085.1:c.*2439G>A	ENSP00000501752.1:n.*2439G>A
ENST00000676133.1:c.*3306G>A	ENSP00000502586.1:n.*3306G>A
ENST00000676343.1:c.3274G>A	ENSP00000501761.1:p.Gly1092Arg
ENST00000676389.1:n.3696G>A
ENST00000682908.1:c.3153G>A	ENSP00000508158.1:n.3153G>A
ENST00000683021.1:c.3172G>A	ENSP00000507416.1:p.Gly1058Arg
ENST00000683425.1:c.*2736G>A	ENSP00000507291.1:n.*2736G>A
ENST00000684352.1:c.3183G>A	ENSP00000508379.1:n.3183G>A
XM_005272656.3:c.3307G>A	XP_005272713.1:p.Gly1103Arg
XM_005272656.5:c.3307G>A	XP_005272713.1:p.Gly1103Arg
XM_005272659.3:c.3151G>A	XP_005272716.1:p.Gly1051Arg
XM_005272659.5:c.3151G>A	XP_005272716.1:p.Gly1051Arg
XM_011543957.1:c.3466G>A	XP_011542259.1:p.Gly1156Arg
XM_011543958.1:c.3409G>A	XP_011542260.1:p.Gly1137Arg
XM_011543958.3:c.3409G>A	XP_011542260.1:p.Gly1137Arg
XM_011543959.1:c.3364G>A	XP_011542261.1:p.Gly1122Arg
XM_011543960.1:c.3466G>A	XP_011542262.1:p.Gly1156Arg
XM_011543961.1:c.3331G>A	XP_011542263.1:p.Gly1111Arg
XM_011543962.1:c.3310G>A	XP_011542264.1:p.Gly1104Arg
XM_011543963.1:c.3274G>A	XP_011542265.1:p.Gly1092Arg
XM_011543963.3:c.3274G>A	XP_011542265.1:p.Gly1092Arg
XM_011543964.1:c.3253G>A	XP_011542266.1:p.Gly1085Arg
XM_011543964.3:c.3253G>A	XP_011542266.1:p.Gly1085Arg
XM_011543965.1:c.3229G>A	XP_011542267.1:p.Gly1077Arg
XM_011543966.1:c.3208G>A	XP_011542268.1:p.Gly1070Arg
XM_011543967.1:c.3310G>A	XP_011542269.1:p.Gly1104Arg
XM_011543968.1:c.3175G>A	XP_011542270.1:p.Gly1059Arg
XM_011543969.1:c.3172G>A	XP_011542271.1:p.Gly1058Arg
XM_011543969.3:c.3172G>A	XP_011542271.1:p.Gly1058Arg
XM_011543970.1:c.3151G>A	XP_011542272.1:p.Gly1051Arg
XM_011543970.3:c.3151G>A	XP_011542272.1:p.Gly1051Arg
XM_011543971.1:c.3229G>A	XP_011542273.1:p.Gly1077Arg
XM_011543972.1:c.3118G>A	XP_011542274.1:p.Gly1040Arg
XM_011543972.3:c.3118G>A	XP_011542274.1:p.Gly1040Arg
XM_011543973.1:c.3175G>A	XP_011542275.1:p.Gly1059Arg
XM_011543974.1:c.3253G>A	XP_011542276.1:p.Gly1085Arg
XM_011543974.2:c.3253G>A	XP_011542276.1:p.Gly1085Arg
XM_011543975.1:c.2656G>A	XP_011542277.1:p.Gly886Arg
XM_011543975.2:c.2656G>A	XP_011542277.1:p.Gly886Arg
XM_011543976.1:c.3466G>A	XP_011542278.1:p.Gly1156Arg
XM_017029783.2:c.3172G>A	XP_016885272.1:p.Gly1058Arg
XM_017029784.1:c.2521G>A	XP_016885273.1:p.Gly841Arg
XM_017029785.1:c.2263G>A	XP_016885274.1:p.Gly755Arg
XM_024452438.1:c.3307G>A	XP_024308206.1:p.Gly1103Arg
XM_024452439.1:c.2884G>A	XP_024308207.1:p.Gly962Arg
XR_002958804.1:n.3779G>A
XR_949018.1:n.3843G>A