Canonical Allele Identifier: CA412801726
Community Standard Title: NM_001291415.2(KDM6A):c.3229A>G (p.Ser1077Gly)
Gene: KDM6A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.45079280A>G , CM000685.2:g.45079280A>G GRCh38
NC_000023.10:g.44938525A>G , CM000685.1:g.44938525A>G GRCh37
NC_000023.9:g.44823469A>G NCBI36
NG_016260.1:g.211103A>G , LRG_616:g.211103A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001291415.2:c.3229A>G MANE Select NP_001278344.1:p.Ser1077Gly
ENST00000611820.5:c.3229A>G MANE Select ENSP00000483595.2:p.Ser1077Gly
NM_001291415.1:c.3229A>G , LRG_616t1:c.3229A>G NP_001278344.1:p.Ser1077Gly
NM_001291416.1:c.3094A>G NP_001278345.1:p.Ser1032Gly
NM_001291416.2:c.3094A>G NP_001278345.1:p.Ser1032Gly
NM_001291417.1:c.2938A>G NP_001278346.1:p.Ser980Gly
NM_001291417.2:c.2938A>G NP_001278346.1:p.Ser980Gly
NM_001291418.1:c.2836A>G NP_001278347.1:p.Ser946Gly
NM_001291418.2:c.2836A>G NP_001278347.1:p.Ser946Gly
NM_001291421.1:c.2185A>G NP_001278350.1:p.Ser729Gly
NM_001291421.2:c.2185A>G NP_001278350.1:p.Ser729Gly
NM_021140.3:c.3073A>G NP_066963.2:p.Ser1025Gly
NM_021140.4:c.3073A>G NP_066963.2:p.Ser1025Gly
NR_111960.1:n.3369A>G
NR_111960.2:n.3356A>G
ENST00000377967.8:c.3073A>G ENSP00000367203.4:p.Ser1025Gly
ENST00000377967.9:c.3073A>G ENSP00000367203.4:p.Ser1025Gly
ENST00000382899.8:c.3022A>G ENSP00000372355.5:p.Ser1008Gly
ENST00000382899.9:c.3094A>G ENSP00000372355.6:p.Ser1032Gly
ENST00000414389.5:c.1865A>G
ENST00000433797.5:c.2000A>G
ENST00000536777.5:c.2866A>G ENSP00000437405.2:p.Ser956Gly
ENST00000536777.6:c.2938A>G ENSP00000437405.3:p.Ser980Gly
ENST00000543216.5:c.2920A>G ENSP00000443078.2:p.Ser974Gly
ENST00000543216.6:c.2836A>G ENSP00000443078.3:p.Ser946Gly
ENST00000611820.4:c.3157A>G ENSP00000483595.1:p.Ser1053Gly
ENST00000621147.4:c.2595+787A>G ENSP00000478793.1:n.2595+787A>G
ENST00000674541.1:c.*2361A>G ENSP00000501919.1:n.*2361A>G
ENST00000674564.1:c.2992A>G ENSP00000502150.1:p.Ser998Gly
ENST00000674586.1:c.3151A>G ENSP00000502660.1:p.Ser1051Gly
ENST00000674659.1:c.*2382+775A>G ENSP00000502255.1:n.*2382+775A>G
ENST00000674739.1:n.4131A>G
ENST00000674867.1:c.2935A>G ENSP00000502060.1:p.Ser979Gly
ENST00000675157.1:n.2680A>G
ENST00000675182.1:n.3113A>G
ENST00000675440.1:n.3249A>G
ENST00000675514.1:c.3073A>G ENSP00000502759.1:p.Ser1025Gly
ENST00000675525.1:n.5195A>G
ENST00000675546.1:n.9779A>G
ENST00000675577.1:c.2971A>G ENSP00000501855.1:p.Ser991Gly
ENST00000675816.1:n.3249A>G
ENST00000676026.1:n.702A>G
ENST00000676062.1:c.3094A>G ENSP00000502311.1:p.Ser1032Gly
ENST00000676085.1:c.*2259A>G ENSP00000501752.1:n.*2259A>G
ENST00000676133.1:c.*3126A>G ENSP00000502586.1:n.*3126A>G
ENST00000676343.1:c.3094A>G ENSP00000501761.1:p.Ser1032Gly
ENST00000676389.1:n.3516A>G
ENST00000682908.1:c.2973A>G ENSP00000508158.1:n.2973A>G
ENST00000683021.1:c.2992A>G ENSP00000507416.1:p.Ser998Gly
ENST00000683425.1:c.*2556A>G ENSP00000507291.1:n.*2556A>G
ENST00000684352.1:c.3003A>G ENSP00000508379.1:n.3003A>G
XM_005272656.3:c.3127A>G XP_005272713.1:p.Ser1043Gly
XM_005272656.5:c.3127A>G XP_005272713.1:p.Ser1043Gly
XM_005272659.3:c.2971A>G XP_005272716.1:p.Ser991Gly
XM_005272659.5:c.2971A>G XP_005272716.1:p.Ser991Gly
XM_011543957.1:c.3286A>G XP_011542259.1:p.Ser1096Gly
XM_011543958.1:c.3229A>G XP_011542260.1:p.Ser1077Gly
XM_011543958.3:c.3229A>G XP_011542260.1:p.Ser1077Gly
XM_011543959.1:c.3184A>G XP_011542261.1:p.Ser1062Gly
XM_011543960.1:c.3286A>G XP_011542262.1:p.Ser1096Gly
XM_011543961.1:c.3151A>G XP_011542263.1:p.Ser1051Gly
XM_011543962.1:c.3130A>G XP_011542264.1:p.Ser1044Gly
XM_011543963.1:c.3094A>G XP_011542265.1:p.Ser1032Gly
XM_011543963.3:c.3094A>G XP_011542265.1:p.Ser1032Gly
XM_011543964.1:c.3073A>G XP_011542266.1:p.Ser1025Gly
XM_011543964.3:c.3073A>G XP_011542266.1:p.Ser1025Gly
XM_011543965.1:c.3049A>G XP_011542267.1:p.Ser1017Gly
XM_011543966.1:c.3028A>G XP_011542268.1:p.Ser1010Gly
XM_011543967.1:c.3130A>G XP_011542269.1:p.Ser1044Gly
XM_011543968.1:c.2995A>G XP_011542270.1:p.Ser999Gly
XM_011543969.1:c.2992A>G XP_011542271.1:p.Ser998Gly
XM_011543969.3:c.2992A>G XP_011542271.1:p.Ser998Gly
XM_011543970.1:c.2971A>G XP_011542272.1:p.Ser991Gly
XM_011543970.3:c.2971A>G XP_011542272.1:p.Ser991Gly
XM_011543971.1:c.3049A>G XP_011542273.1:p.Ser1017Gly
XM_011543972.1:c.2938A>G XP_011542274.1:p.Ser980Gly
XM_011543972.3:c.2938A>G XP_011542274.1:p.Ser980Gly
XM_011543973.1:c.2995A>G XP_011542275.1:p.Ser999Gly
XM_011543974.1:c.3073A>G XP_011542276.1:p.Ser1025Gly
XM_011543974.2:c.3073A>G XP_011542276.1:p.Ser1025Gly
XM_011543975.1:c.2476A>G XP_011542277.1:p.Ser826Gly
XM_011543975.2:c.2476A>G XP_011542277.1:p.Ser826Gly
XM_011543976.1:c.3286A>G XP_011542278.1:p.Ser1096Gly
XM_017029783.2:c.2992A>G XP_016885272.1:p.Ser998Gly
XM_017029784.1:c.2341A>G XP_016885273.1:p.Ser781Gly
XM_017029785.1:c.2083A>G XP_016885274.1:p.Ser695Gly
XM_024452438.1:c.3127A>G XP_024308206.1:p.Ser1043Gly
XM_024452439.1:c.2704A>G XP_024308207.1:p.Ser902Gly
XR_002958804.1:n.3599A>G
XR_949018.1:n.3663A>G