Canonical Allele Identifier: CA412787254

Gene: KDM6A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.45062736G>A , CM000685.2:g.45062736G>A	GRCh38
NC_000023.10:g.44921981G>A , CM000685.1:g.44921981G>A	GRCh37
NC_000023.9:g.44806925G>A	NCBI36
NG_016260.1:g.194559G>A , LRG_616:g.194559G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001291415.2:c.1671G>A MANE Select	NP_001278344.1:p.Met557Ile
ENST00000611820.5:c.1671G>A MANE Select	ENSP00000483595.2:p.Met557Ile
NM_001291415.1:c.1671G>A , LRG_616t1:c.1671G>A	NP_001278344.1:p.Met557Ile
NM_001291416.1:c.1536G>A	NP_001278345.1:p.Met512Ile
NM_001291416.2:c.1536G>A	NP_001278345.1:p.Met512Ile
NM_001291417.1:c.1380G>A	NP_001278346.1:p.Met460Ile
NM_001291417.2:c.1380G>A	NP_001278346.1:p.Met460Ile
NM_001291418.1:c.1291-686G>A	NP_001278347.1:n.1291-686G>A
NM_001291418.2:c.1291-686G>A	NP_001278347.1:n.1291-686G>A
NM_001291421.1:c.627G>A	NP_001278350.1:p.Met209Ile
NM_001291421.2:c.627G>A	NP_001278350.1:p.Met209Ile
NM_021140.3:c.1515G>A	NP_066963.2:p.Met505Ile
NM_021140.4:c.1515G>A	NP_066963.2:p.Met505Ile
NR_111960.1:n.1824-686G>A
NR_111960.2:n.1811-686G>A
ENST00000377967.8:c.1515G>A	ENSP00000367203.4:p.Met505Ile
ENST00000377967.9:c.1515G>A	ENSP00000367203.4:p.Met505Ile
ENST00000382899.8:c.1464G>A	ENSP00000372355.5:p.Met488Ile
ENST00000382899.9:c.1536G>A	ENSP00000372355.6:p.Met512Ile
ENST00000414389.5:c.307G>A
ENST00000433797.5:c.442G>A
ENST00000451692.5:c.417-686G>A
ENST00000536777.5:c.1308G>A	ENSP00000437405.2:p.Met436Ile
ENST00000536777.6:c.1380G>A	ENSP00000437405.3:p.Met460Ile
ENST00000543216.5:c.1375-686G>A	ENSP00000443078.2:n.1375-686G>A
ENST00000543216.6:c.1291-686G>A	ENSP00000443078.3:n.1291-686G>A
ENST00000611820.4:c.1599G>A	ENSP00000483595.1:p.Met533Ile
ENST00000621147.4:c.1197-686G>A	ENSP00000478793.1:n.1197-686G>A
ENST00000621147.5:c.1197-686G>A	ENSP00000478793.1:n.1197-686G>A
ENST00000674541.1:c.*803G>A	ENSP00000501919.1:n.*803G>A
ENST00000674564.1:c.1447-686G>A	ENSP00000502150.1:n.1447-686G>A
ENST00000674586.1:c.1593G>A	ENSP00000502660.1:p.Met531Ile
ENST00000674659.1:c.*959G>A	ENSP00000502255.1:n.*959G>A
ENST00000674739.1:n.1900G>A
ENST00000674867.1:c.1377G>A	ENSP00000502060.1:p.Met459Ile
ENST00000675157.1:n.1135-686G>A
ENST00000675182.1:n.1555G>A
ENST00000675440.1:n.1691G>A
ENST00000675514.1:c.1515G>A	ENSP00000502759.1:p.Met505Ile
ENST00000675525.1:n.3637G>A
ENST00000675546.1:n.1209G>A
ENST00000675577.1:c.1426-686G>A	ENSP00000501855.1:n.1426-686G>A
ENST00000675816.1:n.1691G>A
ENST00000676062.1:c.1536G>A	ENSP00000502311.1:p.Met512Ile
ENST00000676085.1:c.*714-686G>A	ENSP00000501752.1:n.*714-686G>A
ENST00000676133.1:c.*1105G>A	ENSP00000502586.1:n.*1105G>A
ENST00000676343.1:c.1536G>A	ENSP00000501761.1:p.Met512Ile
ENST00000676389.1:n.1495G>A
ENST00000682908.1:c.1415G>A	ENSP00000508158.1:n.1415G>A
ENST00000683021.1:c.1447-686G>A	ENSP00000507416.1:n.1447-686G>A
ENST00000683425.1:c.*998G>A	ENSP00000507291.1:n.*998G>A
ENST00000684352.1:c.1536G>A	ENSP00000508379.1:p.Met512Ile
XM_005272656.3:c.1582-686G>A	XP_005272713.1:n.1582-686G>A
XM_005272656.5:c.1582-686G>A	XP_005272713.1:n.1582-686G>A
XM_005272659.3:c.1426-686G>A	XP_005272716.1:n.1426-686G>A
XM_005272659.5:c.1426-686G>A	XP_005272716.1:n.1426-686G>A
XM_011543957.1:c.1728G>A	XP_011542259.1:p.Met576Ile
XM_011543958.1:c.1671G>A	XP_011542260.1:p.Met557Ile
XM_011543958.3:c.1671G>A	XP_011542260.1:p.Met557Ile
XM_011543959.1:c.1639-686G>A	XP_011542261.1:n.1639-686G>A
XM_011543960.1:c.1728G>A	XP_011542262.1:p.Met576Ile
XM_011543961.1:c.1593G>A	XP_011542263.1:p.Met531Ile
XM_011543962.1:c.1572G>A	XP_011542264.1:p.Met524Ile
XM_011543963.1:c.1536G>A	XP_011542265.1:p.Met512Ile
XM_011543963.3:c.1536G>A	XP_011542265.1:p.Met512Ile
XM_011543964.1:c.1515G>A	XP_011542266.1:p.Met505Ile
XM_011543964.3:c.1515G>A	XP_011542266.1:p.Met505Ile
XM_011543965.1:c.1504-686G>A	XP_011542267.1:n.1504-686G>A
XM_011543966.1:c.1483-686G>A	XP_011542268.1:n.1483-686G>A
XM_011543967.1:c.1572G>A	XP_011542269.1:p.Met524Ile
XM_011543968.1:c.1437G>A	XP_011542270.1:p.Met479Ile
XM_011543969.1:c.1447-686G>A	XP_011542271.1:n.1447-686G>A
XM_011543969.3:c.1447-686G>A	XP_011542271.1:n.1447-686G>A
XM_011543970.1:c.1426-686G>A	XP_011542272.1:n.1426-686G>A
XM_011543970.3:c.1426-686G>A	XP_011542272.1:n.1426-686G>A
XM_011543971.1:c.1504-686G>A	XP_011542273.1:n.1504-686G>A
XM_011543972.1:c.1380G>A	XP_011542274.1:p.Met460Ile
XM_011543972.3:c.1380G>A	XP_011542274.1:p.Met460Ile
XM_011543973.1:c.1437G>A	XP_011542275.1:p.Met479Ile
XM_011543974.1:c.1515G>A	XP_011542276.1:p.Met505Ile
XM_011543974.2:c.1515G>A	XP_011542276.1:p.Met505Ile
XM_011543975.1:c.918G>A	XP_011542277.1:p.Met306Ile
XM_011543975.2:c.918G>A	XP_011542277.1:p.Met306Ile
XM_011543976.1:c.1728G>A	XP_011542278.1:p.Met576Ile
XM_017029783.2:c.1447-686G>A	XP_016885272.1:n.1447-686G>A
XM_017029784.1:c.783G>A	XP_016885273.1:p.Met261Ile
XM_017029785.1:c.538-686G>A	XP_016885274.1:n.538-686G>A
XM_024452438.1:c.1582-686G>A	XP_024308206.1:n.1582-686G>A
XM_024452439.1:c.1146G>A	XP_024308207.1:p.Met382Ile
XR_002958804.1:n.2041G>A
XR_949018.1:n.2105G>A