Canonical Allele Identifier: CA329050312
Community Standard Title: NM_001291415.2(KDM6A):c.2629A>G (p.Thr877Ala)
Gene: KDM6A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.45070128A>G , CM000685.2:g.45070128A>G GRCh38
NC_000023.10:g.44929373A>G , CM000685.1:g.44929373A>G GRCh37
NC_000023.9:g.44814317A>G NCBI36
NG_016260.1:g.201951A>G , LRG_616:g.201951A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001291415.2:c.2629A>G MANE Select NP_001278344.1:p.Thr877Ala
ENST00000611820.5:c.2629A>G MANE Select ENSP00000483595.2:p.Thr877Ala
NM_001291415.1:c.2629A>G , LRG_616t1:c.2629A>G NP_001278344.1:p.Thr877Ala
NM_001291416.1:c.2494A>G NP_001278345.1:p.Thr832Ala
NM_001291416.2:c.2494A>G NP_001278345.1:p.Thr832Ala
NM_001291417.1:c.2338A>G NP_001278346.1:p.Thr780Ala
NM_001291417.2:c.2338A>G NP_001278346.1:p.Thr780Ala
NM_001291418.1:c.2236A>G NP_001278347.1:p.Thr746Ala
NM_001291418.2:c.2236A>G NP_001278347.1:p.Thr746Ala
NM_001291421.1:c.1585A>G NP_001278350.1:p.Thr529Ala
NM_001291421.2:c.1585A>G NP_001278350.1:p.Thr529Ala
NM_021140.3:c.2473A>G NP_066963.2:p.Thr825Ala
NM_021140.4:c.2473A>G NP_066963.2:p.Thr825Ala
NR_111960.1:n.2769A>G
NR_111960.2:n.2756A>G
ENST00000377967.8:c.2473A>G ENSP00000367203.4:p.Thr825Ala
ENST00000377967.9:c.2473A>G ENSP00000367203.4:p.Thr825Ala
ENST00000382899.8:c.2422A>G ENSP00000372355.5:p.Thr808Ala
ENST00000382899.9:c.2494A>G ENSP00000372355.6:p.Thr832Ala
ENST00000414389.5:c.1265A>G
ENST00000433797.5:c.1400A>G
ENST00000536777.5:c.2266A>G ENSP00000437405.2:p.Thr756Ala
ENST00000536777.6:c.2338A>G ENSP00000437405.3:p.Thr780Ala
ENST00000543216.5:c.2320A>G ENSP00000443078.2:p.Thr774Ala
ENST00000543216.6:c.2236A>G ENSP00000443078.3:p.Thr746Ala
ENST00000611820.4:c.2557A>G ENSP00000483595.1:p.Thr853Ala
ENST00000621147.4:c.2142A>G ENSP00000478793.1:n.2142A>G
ENST00000621147.5:c.2142A>G ENSP00000478793.1:n.2142A>G
ENST00000674541.1:c.*1761A>G ENSP00000501919.1:n.*1761A>G
ENST00000674564.1:c.2392A>G ENSP00000502150.1:p.Thr798Ala
ENST00000674586.1:c.2551A>G ENSP00000502660.1:p.Thr851Ala
ENST00000674659.1:c.*1917A>G ENSP00000502255.1:n.*1917A>G
ENST00000674739.1:n.3531A>G
ENST00000674867.1:c.2335A>G ENSP00000502060.1:p.Thr779Ala
ENST00000675157.1:n.2080A>G
ENST00000675182.1:n.2513A>G
ENST00000675440.1:n.2649A>G
ENST00000675514.1:c.2473A>G ENSP00000502759.1:p.Thr825Ala
ENST00000675525.1:n.4595A>G
ENST00000675546.1:n.2840A>G
ENST00000675577.1:c.2371A>G ENSP00000501855.1:p.Thr791Ala
ENST00000675816.1:n.2649A>G
ENST00000676062.1:c.2494A>G ENSP00000502311.1:p.Thr832Ala
ENST00000676085.1:c.*1659A>G ENSP00000501752.1:n.*1659A>G
ENST00000676133.1:c.*2526A>G ENSP00000502586.1:n.*2526A>G
ENST00000676343.1:c.2494A>G ENSP00000501761.1:p.Thr832Ala
ENST00000676389.1:n.2916A>G
ENST00000682908.1:c.2373A>G ENSP00000508158.1:n.2373A>G
ENST00000683021.1:c.2392A>G ENSP00000507416.1:p.Thr798Ala
ENST00000683425.1:c.*1956A>G ENSP00000507291.1:n.*1956A>G
ENST00000684352.1:c.2403A>G ENSP00000508379.1:p.Gln801=
XM_005272656.3:c.2527A>G XP_005272713.1:p.Thr843Ala
XM_005272656.5:c.2527A>G XP_005272713.1:p.Thr843Ala
XM_005272659.3:c.2371A>G XP_005272716.1:p.Thr791Ala
XM_005272659.5:c.2371A>G XP_005272716.1:p.Thr791Ala
XM_011543957.1:c.2686A>G XP_011542259.1:p.Thr896Ala
XM_011543958.1:c.2629A>G XP_011542260.1:p.Thr877Ala
XM_011543958.3:c.2629A>G XP_011542260.1:p.Thr877Ala
XM_011543959.1:c.2584A>G XP_011542261.1:p.Thr862Ala
XM_011543960.1:c.2686A>G XP_011542262.1:p.Thr896Ala
XM_011543961.1:c.2551A>G XP_011542263.1:p.Thr851Ala
XM_011543962.1:c.2530A>G XP_011542264.1:p.Thr844Ala
XM_011543963.1:c.2494A>G XP_011542265.1:p.Thr832Ala
XM_011543963.3:c.2494A>G XP_011542265.1:p.Thr832Ala
XM_011543964.1:c.2473A>G XP_011542266.1:p.Thr825Ala
XM_011543964.3:c.2473A>G XP_011542266.1:p.Thr825Ala
XM_011543965.1:c.2449A>G XP_011542267.1:p.Thr817Ala
XM_011543966.1:c.2428A>G XP_011542268.1:p.Thr810Ala
XM_011543967.1:c.2530A>G XP_011542269.1:p.Thr844Ala
XM_011543968.1:c.2395A>G XP_011542270.1:p.Thr799Ala
XM_011543969.1:c.2392A>G XP_011542271.1:p.Thr798Ala
XM_011543969.3:c.2392A>G XP_011542271.1:p.Thr798Ala
XM_011543970.1:c.2371A>G XP_011542272.1:p.Thr791Ala
XM_011543970.3:c.2371A>G XP_011542272.1:p.Thr791Ala
XM_011543971.1:c.2449A>G XP_011542273.1:p.Thr817Ala
XM_011543972.1:c.2338A>G XP_011542274.1:p.Thr780Ala
XM_011543972.3:c.2338A>G XP_011542274.1:p.Thr780Ala
XM_011543973.1:c.2395A>G XP_011542275.1:p.Thr799Ala
XM_011543974.1:c.2473A>G XP_011542276.1:p.Thr825Ala
XM_011543974.2:c.2473A>G XP_011542276.1:p.Thr825Ala
XM_011543975.1:c.1876A>G XP_011542277.1:p.Thr626Ala
XM_011543975.2:c.1876A>G XP_011542277.1:p.Thr626Ala
XM_011543976.1:c.2686A>G XP_011542278.1:p.Thr896Ala
XM_017029783.2:c.2392A>G XP_016885272.1:p.Thr798Ala
XM_017029784.1:c.1741A>G XP_016885273.1:p.Thr581Ala
XM_017029785.1:c.1483A>G XP_016885274.1:p.Thr495Ala
XM_024452438.1:c.2527A>G XP_024308206.1:p.Thr843Ala
XM_024452439.1:c.2104A>G XP_024308207.1:p.Thr702Ala
XR_002958804.1:n.2999A>G
XR_949018.1:n.3063A>G