Canonical Allele Identifier: CA412777667
Community Standard Title: NM_001291415.2(KDM6A):c.4317T>A (p.Tyr1439Ter)
Gene: KDM6A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.45110234T>A , CM000685.2:g.45110234T>A GRCh38
NC_000023.10:g.44969479T>A , CM000685.1:g.44969479T>A GRCh37
NC_000023.9:g.44854423T>A NCBI36
NG_016260.1:g.242057T>A , LRG_616:g.242057T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001291415.2:c.4317T>A MANE Select NP_001278344.1:p.Tyr1439Ter
ENST00000611820.5:c.4317T>A MANE Select ENSP00000483595.2:p.Tyr1439Ter
NM_001291415.1:c.4317T>A , LRG_616t1:c.4317T>A NP_001278344.1:p.Tyr1439Ter
NM_001291416.1:c.4182T>A NP_001278345.1:p.Tyr1394Ter
NM_001291416.2:c.4182T>A NP_001278345.1:p.Tyr1394Ter
NM_001291417.1:c.4026T>A NP_001278346.1:p.Tyr1342Ter
NM_001291417.2:c.4026T>A NP_001278346.1:p.Tyr1342Ter
NM_001291418.1:c.3924T>A NP_001278347.1:p.Tyr1308Ter
NM_001291418.2:c.3924T>A NP_001278347.1:p.Tyr1308Ter
NM_001291421.1:c.3273T>A NP_001278350.1:p.Tyr1091Ter
NM_001291421.2:c.3273T>A NP_001278350.1:p.Tyr1091Ter
NM_021140.3:c.4161T>A NP_066963.2:p.Tyr1387Ter
NM_021140.4:c.4161T>A NP_066963.2:p.Tyr1387Ter
NR_111960.1:n.4425T>A
NR_111960.2:n.4412T>A
ENST00000377967.8:c.4161T>A ENSP00000367203.4:p.Tyr1387Ter
ENST00000377967.9:c.4161T>A ENSP00000367203.4:p.Tyr1387Ter
ENST00000382899.8:c.4110T>A ENSP00000372355.5:p.Tyr1370Ter
ENST00000382899.9:c.4182T>A ENSP00000372355.6:p.Tyr1394Ter
ENST00000414389.5:c.2953T>A
ENST00000431196.2:c.439T>A
ENST00000431196.3:c.439T>A
ENST00000433797.5:c.3088T>A
ENST00000479423.1:n.753T>A
ENST00000479423.2:n.3469T>A
ENST00000536777.5:c.3954T>A ENSP00000437405.2:p.Tyr1318Ter
ENST00000536777.6:c.4026T>A ENSP00000437405.3:p.Tyr1342Ter
ENST00000543216.5:c.*166T>A ENSP00000443078.2:n.*166T>A
ENST00000543216.6:c.3924T>A ENSP00000443078.3:p.Tyr1308Ter
ENST00000611820.4:c.4245T>A ENSP00000483595.1:p.Tyr1415Ter
ENST00000621147.4:c.2831T>A ENSP00000478793.1:n.2831T>A
ENST00000674541.1:c.*3449T>A ENSP00000501919.1:n.*3449T>A
ENST00000674564.1:c.*166T>A ENSP00000502150.1:n.*166T>A
ENST00000674586.1:c.4239T>A ENSP00000502660.1:p.Tyr1413Ter
ENST00000674659.1:c.*3399T>A ENSP00000502255.1:n.*3399T>A
ENST00000674739.1:n.5219T>A
ENST00000674867.1:c.4023T>A ENSP00000502060.1:p.Tyr1341Ter
ENST00000675157.1:n.3768T>A
ENST00000675182.1:n.4201T>A
ENST00000675514.1:c.*712T>A ENSP00000502759.1:n.*712T>A
ENST00000675525.1:n.6283T>A
ENST00000675546.1:n.10941T>A
ENST00000675577.1:c.4059T>A ENSP00000501855.1:p.Tyr1353Ter
ENST00000675816.1:n.5205T>A
ENST00000676062.1:c.*343T>A ENSP00000502311.1:n.*343T>A
ENST00000676085.1:c.*3347T>A ENSP00000501752.1:n.*3347T>A
ENST00000676133.1:c.*4214T>A ENSP00000502586.1:n.*4214T>A
ENST00000676343.1:c.*269T>A ENSP00000501761.1:n.*269T>A
ENST00000676389.1:n.4604T>A
ENST00000682908.1:c.4061T>A ENSP00000508158.1:n.4061T>A
ENST00000683021.1:c.4080T>A ENSP00000507416.1:p.Tyr1360Ter
ENST00000683425.1:c.*3644T>A ENSP00000507291.1:n.*3644T>A
ENST00000684352.1:c.4091T>A ENSP00000508379.1:n.4091T>A
XM_005272656.3:c.4215T>A XP_005272713.1:p.Tyr1405Ter
XM_005272656.5:c.4215T>A XP_005272713.1:p.Tyr1405Ter
XM_005272659.3:c.4059T>A XP_005272716.1:p.Tyr1353Ter
XM_005272659.5:c.4059T>A XP_005272716.1:p.Tyr1353Ter
XM_011543957.1:c.4482T>A XP_011542259.1:p.Tyr1494Ter
XM_011543958.1:c.4425T>A XP_011542260.1:p.Tyr1475Ter
XM_011543958.3:c.4425T>A XP_011542260.1:p.Tyr1475Ter
XM_011543959.1:c.4380T>A XP_011542261.1:p.Tyr1460Ter
XM_011543960.1:c.4374T>A XP_011542262.1:p.Tyr1458Ter
XM_011543961.1:c.4347T>A XP_011542263.1:p.Tyr1449Ter
XM_011543962.1:c.4326T>A XP_011542264.1:p.Tyr1442Ter
XM_011543963.1:c.4290T>A XP_011542265.1:p.Tyr1430Ter
XM_011543963.3:c.4290T>A XP_011542265.1:p.Tyr1430Ter
XM_011543964.1:c.4269T>A XP_011542266.1:p.Tyr1423Ter
XM_011543964.3:c.4269T>A XP_011542266.1:p.Tyr1423Ter
XM_011543965.1:c.4245T>A XP_011542267.1:p.Tyr1415Ter
XM_011543966.1:c.4224T>A XP_011542268.1:p.Tyr1408Ter
XM_011543967.1:c.4218T>A XP_011542269.1:p.Tyr1406Ter
XM_011543968.1:c.4191T>A XP_011542270.1:p.Tyr1397Ter
XM_011543969.1:c.4188T>A XP_011542271.1:p.Tyr1396Ter
XM_011543969.3:c.4188T>A XP_011542271.1:p.Tyr1396Ter
XM_011543970.1:c.4167T>A XP_011542272.1:p.Tyr1389Ter
XM_011543970.3:c.4167T>A XP_011542272.1:p.Tyr1389Ter
XM_011543971.1:c.4137T>A XP_011542273.1:p.Tyr1379Ter
XM_011543972.1:c.4134T>A XP_011542274.1:p.Tyr1378Ter
XM_011543972.3:c.4134T>A XP_011542274.1:p.Tyr1378Ter
XM_011543973.1:c.4083T>A XP_011542275.1:p.Tyr1361Ter
XM_011543975.1:c.3672T>A XP_011542277.1:p.Tyr1224Ter
XM_011543975.2:c.3672T>A XP_011542277.1:p.Tyr1224Ter
XM_017029783.2:c.4080T>A XP_016885272.1:p.Tyr1360Ter
XM_017029784.1:c.3537T>A XP_016885273.1:p.Tyr1179Ter
XM_017029785.1:c.3171T>A XP_016885274.1:p.Tyr1057Ter
XM_024452438.1:c.4323T>A XP_024308206.1:p.Tyr1441Ter
XM_024452439.1:c.3900T>A XP_024308207.1:p.Tyr1300Ter
XR_002958804.1:n.4859T>A