Canonical Allele Identifier: CA329044836
Community Standard Title: NM_001291415.2(KDM6A):c.1487A>G (p.Asn496Ser)
Gene: KDM6A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.45061325A>G , CM000685.2:g.45061325A>G GRCh38
NC_000023.10:g.44920570A>G , CM000685.1:g.44920570A>G GRCh37
NC_000023.9:g.44805514A>G NCBI36
NG_016260.1:g.193148A>G , LRG_616:g.193148A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001291415.2:c.1487A>G MANE Select NP_001278344.1:p.Asn496Ser
ENST00000611820.5:c.1487A>G MANE Select ENSP00000483595.2:p.Asn496Ser
NM_001291415.1:c.1487A>G , LRG_616t1:c.1487A>G NP_001278344.1:p.Asn496Ser
NM_001291416.1:c.1352A>G NP_001278345.1:p.Asn451Ser
NM_001291416.2:c.1352A>G NP_001278345.1:p.Asn451Ser
NM_001291417.1:c.1196A>G NP_001278346.1:p.Asn399Ser
NM_001291417.2:c.1196A>G NP_001278346.1:p.Asn399Ser
NM_001291418.1:c.1196A>G NP_001278347.1:p.Asn399Ser
NM_001291418.2:c.1196A>G NP_001278347.1:p.Asn399Ser
NM_001291421.1:c.443A>G NP_001278350.1:p.Asn148Ser
NM_001291421.2:c.443A>G NP_001278350.1:p.Asn148Ser
NM_021140.3:c.1331A>G NP_066963.2:p.Asn444Ser
NM_021140.4:c.1331A>G NP_066963.2:p.Asn444Ser
NR_111960.1:n.1729A>G
NR_111960.2:n.1716A>G
ENST00000377967.8:c.1331A>G ENSP00000367203.4:p.Asn444Ser
ENST00000377967.9:c.1331A>G ENSP00000367203.4:p.Asn444Ser
ENST00000382899.8:c.1280A>G ENSP00000372355.5:p.Asn427Ser
ENST00000382899.9:c.1352A>G ENSP00000372355.6:p.Asn451Ser
ENST00000414389.5:c.123A>G
ENST00000433797.5:c.258A>G
ENST00000451692.5:c.322A>G
ENST00000536777.5:c.1124A>G ENSP00000437405.2:p.Asn375Ser
ENST00000536777.6:c.1196A>G ENSP00000437405.3:p.Asn399Ser
ENST00000543216.5:c.1280A>G ENSP00000443078.2:p.Asn427Ser
ENST00000543216.6:c.1196A>G ENSP00000443078.3:p.Asn399Ser
ENST00000611820.4:c.1415A>G ENSP00000483595.1:p.Asn472Ser
ENST00000621147.4:c.1102A>G ENSP00000478793.1:n.1102A>G
ENST00000621147.5:c.1102A>G ENSP00000478793.1:n.1102A>G
ENST00000674541.1:c.*619A>G ENSP00000501919.1:n.*619A>G
ENST00000674564.1:c.1352A>G ENSP00000502150.1:p.Asn451Ser
ENST00000674586.1:c.1409A>G ENSP00000502660.1:p.Asn470Ser
ENST00000674659.1:c.*775A>G ENSP00000502255.1:n.*775A>G
ENST00000674739.1:n.1716A>G
ENST00000674867.1:c.1193A>G ENSP00000502060.1:p.Asn398Ser
ENST00000675157.1:n.1040A>G
ENST00000675182.1:n.1371A>G
ENST00000675440.1:n.1507A>G
ENST00000675514.1:c.1331A>G ENSP00000502759.1:p.Asn444Ser
ENST00000675525.1:n.3453A>G
ENST00000675577.1:c.1331A>G ENSP00000501855.1:p.Asn444Ser
ENST00000675816.1:n.1507A>G
ENST00000676062.1:c.1352A>G ENSP00000502311.1:p.Asn451Ser
ENST00000676085.1:c.*619A>G ENSP00000501752.1:n.*619A>G
ENST00000676133.1:c.*921A>G ENSP00000502586.1:n.*921A>G
ENST00000676343.1:c.1352A>G ENSP00000501761.1:p.Asn451Ser
ENST00000676389.1:n.1311A>G
ENST00000682908.1:c.1231A>G ENSP00000508158.1:n.1231A>G
ENST00000683021.1:c.1352A>G ENSP00000507416.1:p.Asn451Ser
ENST00000683425.1:c.*814A>G ENSP00000507291.1:n.*814A>G
ENST00000684352.1:c.1352A>G ENSP00000508379.1:p.Asn451Ser
XM_005272656.3:c.1487A>G XP_005272713.1:p.Asn496Ser
XM_005272656.5:c.1487A>G XP_005272713.1:p.Asn496Ser
XM_005272659.3:c.1331A>G XP_005272716.1:p.Asn444Ser
XM_005272659.5:c.1331A>G XP_005272716.1:p.Asn444Ser
XM_011543957.1:c.1544A>G XP_011542259.1:p.Asn515Ser
XM_011543958.1:c.1487A>G XP_011542260.1:p.Asn496Ser
XM_011543958.3:c.1487A>G XP_011542260.1:p.Asn496Ser
XM_011543959.1:c.1544A>G XP_011542261.1:p.Asn515Ser
XM_011543960.1:c.1544A>G XP_011542262.1:p.Asn515Ser
XM_011543961.1:c.1409A>G XP_011542263.1:p.Asn470Ser
XM_011543962.1:c.1388A>G XP_011542264.1:p.Asn463Ser
XM_011543963.1:c.1352A>G XP_011542265.1:p.Asn451Ser
XM_011543963.3:c.1352A>G XP_011542265.1:p.Asn451Ser
XM_011543964.1:c.1331A>G XP_011542266.1:p.Asn444Ser
XM_011543964.3:c.1331A>G XP_011542266.1:p.Asn444Ser
XM_011543965.1:c.1409A>G XP_011542267.1:p.Asn470Ser
XM_011543966.1:c.1388A>G XP_011542268.1:p.Asn463Ser
XM_011543967.1:c.1388A>G XP_011542269.1:p.Asn463Ser
XM_011543968.1:c.1253A>G XP_011542270.1:p.Asn418Ser
XM_011543969.1:c.1352A>G XP_011542271.1:p.Asn451Ser
XM_011543969.3:c.1352A>G XP_011542271.1:p.Asn451Ser
XM_011543970.1:c.1331A>G XP_011542272.1:p.Asn444Ser
XM_011543970.3:c.1331A>G XP_011542272.1:p.Asn444Ser
XM_011543971.1:c.1409A>G XP_011542273.1:p.Asn470Ser
XM_011543972.1:c.1196A>G XP_011542274.1:p.Asn399Ser
XM_011543972.3:c.1196A>G XP_011542274.1:p.Asn399Ser
XM_011543973.1:c.1253A>G XP_011542275.1:p.Asn418Ser
XM_011543974.1:c.1331A>G XP_011542276.1:p.Asn444Ser
XM_011543974.2:c.1331A>G XP_011542276.1:p.Asn444Ser
XM_011543975.1:c.734A>G XP_011542277.1:p.Asn245Ser
XM_011543975.2:c.734A>G XP_011542277.1:p.Asn245Ser
XM_011543976.1:c.1544A>G XP_011542278.1:p.Asn515Ser
XM_017029783.2:c.1352A>G XP_016885272.1:p.Asn451Ser
XM_017029784.1:c.599A>G XP_016885273.1:p.Asn200Ser
XM_017029785.1:c.443A>G XP_016885274.1:p.Asn148Ser
XM_024452438.1:c.1487A>G XP_024308206.1:p.Asn496Ser
XM_024452439.1:c.962A>G XP_024308207.1:p.Asn321Ser
XR_002958804.1:n.1857A>G
XR_949018.1:n.1921A>G