Canonical Allele Identifier: CA10392393

Gene: KDM6A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45062739A>G , CM000685.2:g.45062739A>G	GRCh38
NC_000023.10:g.44921984A>G , CM000685.1:g.44921984A>G	GRCh37
NC_000023.9:g.44806928A>G	NCBI36
NG_016260.1:g.194562A>G , LRG_616:g.194562A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001291415.2:c.1674A>G MANE Select	NP_001278344.1:p.Gln558=
ENST00000611820.5:c.1674A>G MANE Select	ENSP00000483595.2:p.Gln558=
NM_001291415.1:c.1674A>G , LRG_616t1:c.1674A>G	NP_001278344.1:p.Gln558=
NM_001291416.1:c.1539A>G	NP_001278345.1:p.Gln513=
NM_001291416.2:c.1539A>G	NP_001278345.1:p.Gln513=
NM_001291417.1:c.1383A>G	NP_001278346.1:p.Gln461=
NM_001291417.2:c.1383A>G	NP_001278346.1:p.Gln461=
NM_001291418.1:c.1291-683A>G	NP_001278347.1:n.1291-683A>G
NM_001291418.2:c.1291-683A>G	NP_001278347.1:n.1291-683A>G
NM_001291421.1:c.630A>G	NP_001278350.1:p.Gln210=
NM_001291421.2:c.630A>G	NP_001278350.1:p.Gln210=
NM_021140.3:c.1518A>G	NP_066963.2:p.Gln506=
NM_021140.4:c.1518A>G	NP_066963.2:p.Gln506=
NR_111960.1:n.1824-683A>G
NR_111960.2:n.1811-683A>G
ENST00000377967.8:c.1518A>G	ENSP00000367203.4:p.Gln506=
ENST00000377967.9:c.1518A>G	ENSP00000367203.4:p.Gln506=
ENST00000382899.8:c.1467A>G	ENSP00000372355.5:p.Gln489=
ENST00000382899.9:c.1539A>G	ENSP00000372355.6:p.Gln513=
ENST00000414389.5:c.310A>G
ENST00000433797.5:c.445A>G
ENST00000451692.5:c.417-683A>G
ENST00000536777.5:c.1311A>G	ENSP00000437405.2:p.Gln437=
ENST00000536777.6:c.1383A>G	ENSP00000437405.3:p.Gln461=
ENST00000543216.5:c.1375-683A>G	ENSP00000443078.2:n.1375-683A>G
ENST00000543216.6:c.1291-683A>G	ENSP00000443078.3:n.1291-683A>G
ENST00000611820.4:c.1602A>G	ENSP00000483595.1:p.Gln534=
ENST00000621147.4:c.1197-683A>G	ENSP00000478793.1:n.1197-683A>G
ENST00000621147.5:c.1197-683A>G	ENSP00000478793.1:n.1197-683A>G
ENST00000674541.1:c.*806A>G	ENSP00000501919.1:n.*806A>G
ENST00000674564.1:c.1447-683A>G	ENSP00000502150.1:n.1447-683A>G
ENST00000674586.1:c.1596A>G	ENSP00000502660.1:p.Gln532=
ENST00000674659.1:c.*962A>G	ENSP00000502255.1:n.*962A>G
ENST00000674739.1:n.1903A>G
ENST00000674867.1:c.1380A>G	ENSP00000502060.1:p.Gln460=
ENST00000675157.1:n.1135-683A>G
ENST00000675182.1:n.1558A>G
ENST00000675440.1:n.1694A>G
ENST00000675514.1:c.1518A>G	ENSP00000502759.1:p.Gln506=
ENST00000675525.1:n.3640A>G
ENST00000675546.1:n.1212A>G
ENST00000675577.1:c.1426-683A>G	ENSP00000501855.1:n.1426-683A>G
ENST00000675816.1:n.1694A>G
ENST00000676062.1:c.1539A>G	ENSP00000502311.1:p.Gln513=
ENST00000676085.1:c.*714-683A>G	ENSP00000501752.1:n.*714-683A>G
ENST00000676133.1:c.*1108A>G	ENSP00000502586.1:n.*1108A>G
ENST00000676343.1:c.1539A>G	ENSP00000501761.1:p.Gln513=
ENST00000676389.1:n.1498A>G
ENST00000682908.1:c.1418A>G	ENSP00000508158.1:n.1418A>G
ENST00000683021.1:c.1447-683A>G	ENSP00000507416.1:n.1447-683A>G
ENST00000683425.1:c.*1001A>G	ENSP00000507291.1:n.*1001A>G
ENST00000684352.1:c.1539A>G	ENSP00000508379.1:p.Gln513=
XM_005272656.3:c.1582-683A>G	XP_005272713.1:n.1582-683A>G
XM_005272656.5:c.1582-683A>G	XP_005272713.1:n.1582-683A>G
XM_005272659.3:c.1426-683A>G	XP_005272716.1:n.1426-683A>G
XM_005272659.5:c.1426-683A>G	XP_005272716.1:n.1426-683A>G
XM_011543957.1:c.1731A>G	XP_011542259.1:p.Gln577=
XM_011543958.1:c.1674A>G	XP_011542260.1:p.Gln558=
XM_011543958.3:c.1674A>G	XP_011542260.1:p.Gln558=
XM_011543959.1:c.1639-683A>G	XP_011542261.1:n.1639-683A>G
XM_011543960.1:c.1731A>G	XP_011542262.1:p.Gln577=
XM_011543961.1:c.1596A>G	XP_011542263.1:p.Gln532=
XM_011543962.1:c.1575A>G	XP_011542264.1:p.Gln525=
XM_011543963.1:c.1539A>G	XP_011542265.1:p.Gln513=
XM_011543963.3:c.1539A>G	XP_011542265.1:p.Gln513=
XM_011543964.1:c.1518A>G	XP_011542266.1:p.Gln506=
XM_011543964.3:c.1518A>G	XP_011542266.1:p.Gln506=
XM_011543965.1:c.1504-683A>G	XP_011542267.1:n.1504-683A>G
XM_011543966.1:c.1483-683A>G	XP_011542268.1:n.1483-683A>G
XM_011543967.1:c.1575A>G	XP_011542269.1:p.Gln525=
XM_011543968.1:c.1440A>G	XP_011542270.1:p.Gln480=
XM_011543969.1:c.1447-683A>G	XP_011542271.1:n.1447-683A>G
XM_011543969.3:c.1447-683A>G	XP_011542271.1:n.1447-683A>G
XM_011543970.1:c.1426-683A>G	XP_011542272.1:n.1426-683A>G
XM_011543970.3:c.1426-683A>G	XP_011542272.1:n.1426-683A>G
XM_011543971.1:c.1504-683A>G	XP_011542273.1:n.1504-683A>G
XM_011543972.1:c.1383A>G	XP_011542274.1:p.Gln461=
XM_011543972.3:c.1383A>G	XP_011542274.1:p.Gln461=
XM_011543973.1:c.1440A>G	XP_011542275.1:p.Gln480=
XM_011543974.1:c.1518A>G	XP_011542276.1:p.Gln506=
XM_011543974.2:c.1518A>G	XP_011542276.1:p.Gln506=
XM_011543975.1:c.921A>G	XP_011542277.1:p.Gln307=
XM_011543975.2:c.921A>G	XP_011542277.1:p.Gln307=
XM_011543976.1:c.1731A>G	XP_011542278.1:p.Gln577=
XM_017029783.2:c.1447-683A>G	XP_016885272.1:n.1447-683A>G
XM_017029784.1:c.786A>G	XP_016885273.1:p.Gln262=
XM_017029785.1:c.538-683A>G	XP_016885274.1:n.538-683A>G
XM_024452438.1:c.1582-683A>G	XP_024308206.1:n.1582-683A>G
XM_024452439.1:c.1149A>G	XP_024308207.1:p.Gln383=
XR_002958804.1:n.2044A>G
XR_949018.1:n.2108A>G