Canonical Allele Identifier: CA2739273467

Gene: KDM6A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45082573T>G , CM000685.2:g.45082573T>G	GRCh38
NC_000023.10:g.44941818T>G , CM000685.1:g.44941818T>G	GRCh37
NC_000023.9:g.44826762T>G	NCBI36
NG_016260.1:g.214396T>G , LRG_616:g.214396T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001291415.2:c.3301-3T>G MANE Select	NP_001278344.1:n.3301-3T>G
ENST00000611820.5:c.3301-3T>G MANE Select	ENSP00000483595.2:n.3301-3T>G
NM_001291415.1:c.3301-3T>G , LRG_616t1:c.3301-3T>G	NP_001278344.1:n.3301-3T>G
NM_001291416.1:c.3166-3T>G	NP_001278345.1:n.3166-3T>G
NM_001291416.2:c.3166-3T>G	NP_001278345.1:n.3166-3T>G
NM_001291417.1:c.3010-3T>G	NP_001278346.1:n.3010-3T>G
NM_001291417.2:c.3010-3T>G	NP_001278346.1:n.3010-3T>G
NM_001291418.1:c.2908-3T>G	NP_001278347.1:n.2908-3T>G
NM_001291418.2:c.2908-3T>G	NP_001278347.1:n.2908-3T>G
NM_001291421.1:c.2257-3T>G	NP_001278350.1:n.2257-3T>G
NM_001291421.2:c.2257-3T>G	NP_001278350.1:n.2257-3T>G
NM_021140.3:c.3145-3T>G	NP_066963.2:n.3145-3T>G
NM_021140.4:c.3145-3T>G	NP_066963.2:n.3145-3T>G
NR_111960.1:n.3441-3T>G
NR_111960.2:n.3428-3T>G
ENST00000377967.8:c.3145-3T>G	ENSP00000367203.4:n.3145-3T>G
ENST00000377967.9:c.3145-3T>G	ENSP00000367203.4:n.3145-3T>G
ENST00000382899.8:c.3094-3T>G	ENSP00000372355.5:n.3094-3T>G
ENST00000382899.9:c.3166-3T>G	ENSP00000372355.6:n.3166-3T>G
ENST00000414389.5:c.1937-3T>G
ENST00000433797.5:c.2072-3T>G
ENST00000485072.5:n.176T>G
ENST00000536777.5:c.2938-3T>G	ENSP00000437405.2:n.2938-3T>G
ENST00000536777.6:c.3010-3T>G	ENSP00000437405.3:n.3010-3T>G
ENST00000543216.5:c.2992-3T>G	ENSP00000443078.2:n.2992-3T>G
ENST00000543216.6:c.2908-3T>G	ENSP00000443078.3:n.2908-3T>G
ENST00000611820.4:c.3229-3T>G	ENSP00000483595.1:n.3229-3T>G
ENST00000621147.4:c.2595+4080T>G	ENSP00000478793.1:n.2595+4080T>G
ENST00000674541.1:c.*2433-3T>G	ENSP00000501919.1:n.*2433-3T>G
ENST00000674564.1:c.3064-3T>G	ENSP00000502150.1:n.3064-3T>G
ENST00000674586.1:c.3223-3T>G	ENSP00000502660.1:n.3223-3T>G
ENST00000674659.1:c.*2383-3T>G	ENSP00000502255.1:n.*2383-3T>G
ENST00000674739.1:n.4203-3T>G
ENST00000674867.1:c.3007-3T>G	ENSP00000502060.1:n.3007-3T>G
ENST00000675157.1:n.2752-3T>G
ENST00000675182.1:n.3185-3T>G
ENST00000675514.1:c.3145-3T>G	ENSP00000502759.1:n.3145-3T>G
ENST00000675525.1:n.5267-3T>G
ENST00000675546.1:n.9851-3T>G
ENST00000675577.1:c.3043-3T>G	ENSP00000501855.1:n.3043-3T>G
ENST00000675816.1:n.3321-3T>G
ENST00000676026.1:n.774-3T>G
ENST00000676062.1:c.3166-3T>G	ENSP00000502311.1:n.3166-3T>G
ENST00000676085.1:c.*2331-3T>G	ENSP00000501752.1:n.*2331-3T>G
ENST00000676133.1:c.*3198-3T>G	ENSP00000502586.1:n.*3198-3T>G
ENST00000676343.1:c.3166-3T>G	ENSP00000501761.1:n.3166-3T>G
ENST00000676389.1:n.3588-3T>G
ENST00000682908.1:c.3045-3T>G	ENSP00000508158.1:n.3045-3T>G
ENST00000683021.1:c.3064-3T>G	ENSP00000507416.1:n.3064-3T>G
ENST00000683425.1:c.*2628-3T>G	ENSP00000507291.1:n.*2628-3T>G
ENST00000684352.1:c.3075-3T>G	ENSP00000508379.1:n.3075-3T>G
XM_005272656.3:c.3199-3T>G	XP_005272713.1:n.3199-3T>G
XM_005272656.5:c.3199-3T>G	XP_005272713.1:n.3199-3T>G
XM_005272659.3:c.3043-3T>G	XP_005272716.1:n.3043-3T>G
XM_005272659.5:c.3043-3T>G	XP_005272716.1:n.3043-3T>G
XM_011543957.1:c.3358-3T>G	XP_011542259.1:n.3358-3T>G
XM_011543958.1:c.3301-3T>G	XP_011542260.1:n.3301-3T>G
XM_011543958.3:c.3301-3T>G	XP_011542260.1:n.3301-3T>G
XM_011543959.1:c.3256-3T>G	XP_011542261.1:n.3256-3T>G
XM_011543960.1:c.3358-3T>G	XP_011542262.1:n.3358-3T>G
XM_011543961.1:c.3223-3T>G	XP_011542263.1:n.3223-3T>G
XM_011543962.1:c.3202-3T>G	XP_011542264.1:n.3202-3T>G
XM_011543963.1:c.3166-3T>G	XP_011542265.1:n.3166-3T>G
XM_011543963.3:c.3166-3T>G	XP_011542265.1:n.3166-3T>G
XM_011543964.1:c.3145-3T>G	XP_011542266.1:n.3145-3T>G
XM_011543964.3:c.3145-3T>G	XP_011542266.1:n.3145-3T>G
XM_011543965.1:c.3121-3T>G	XP_011542267.1:n.3121-3T>G
XM_011543966.1:c.3100-3T>G	XP_011542268.1:n.3100-3T>G
XM_011543967.1:c.3202-3T>G	XP_011542269.1:n.3202-3T>G
XM_011543968.1:c.3067-3T>G	XP_011542270.1:n.3067-3T>G
XM_011543969.1:c.3064-3T>G	XP_011542271.1:n.3064-3T>G
XM_011543969.3:c.3064-3T>G	XP_011542271.1:n.3064-3T>G
XM_011543970.1:c.3043-3T>G	XP_011542272.1:n.3043-3T>G
XM_011543970.3:c.3043-3T>G	XP_011542272.1:n.3043-3T>G
XM_011543971.1:c.3121-3T>G	XP_011542273.1:n.3121-3T>G
XM_011543972.1:c.3010-3T>G	XP_011542274.1:n.3010-3T>G
XM_011543972.3:c.3010-3T>G	XP_011542274.1:n.3010-3T>G
XM_011543973.1:c.3067-3T>G	XP_011542275.1:n.3067-3T>G
XM_011543974.1:c.3145-3T>G	XP_011542276.1:n.3145-3T>G
XM_011543974.2:c.3145-3T>G	XP_011542276.1:n.3145-3T>G
XM_011543975.1:c.2548-3T>G	XP_011542277.1:n.2548-3T>G
XM_011543975.2:c.2548-3T>G	XP_011542277.1:n.2548-3T>G
XM_011543976.1:c.3358-3T>G	XP_011542278.1:n.3358-3T>G
XM_017029783.2:c.3064-3T>G	XP_016885272.1:n.3064-3T>G
XM_017029784.1:c.2413-3T>G	XP_016885273.1:n.2413-3T>G
XM_017029785.1:c.2155-3T>G	XP_016885274.1:n.2155-3T>G
XM_024452438.1:c.3199-3T>G	XP_024308206.1:n.3199-3T>G
XM_024452439.1:c.2776-3T>G	XP_024308207.1:n.2776-3T>G
XR_002958804.1:n.3671-3T>G
XR_949018.1:n.3735-3T>G