Canonical Allele Identifier: CA384685591
Community Standard Title: NM_003482.4(KMT2D):c.15689G>A (p.Cys5230Tyr)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49026277C>T , CM000674.2:g.49026277C>T GRCh38
NC_000012.11:g.49420060C>T , CM000674.1:g.49420060C>T GRCh37
NC_000012.10:g.47706327C>T NCBI36
NG_027827.1:g.34048G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.15689G>A MANE Select NP_003473.3:p.Cys5230Tyr
ENST00000301067.12:c.15689G>A MANE Select ENSP00000301067.7:p.Cys5230Tyr
NM_003482.3:c.15689G>A NP_003473.3:p.Cys5230Tyr
ENST00000301067.11:c.15689G>A ENSP00000301067.7:p.Cys5230Tyr
ENST00000683543.2:c.15689G>A ENSP00000506726.1:p.Cys5230Tyr
ENST00000683863.1:n.169G>A
ENST00000684428.1:c.224G>A ENSP00000507433.1:p.Cys75Tyr
ENST00000684755.1:n.224G>A
ENST00000685024.1:c.814G>A
ENST00000685166.1:c.15698G>A ENSP00000509386.1:p.Cys5233Tyr
ENST00000688411.1:c.262-1331G>A ENSP00000510146.1:n.262-1331G>A
ENST00000691463.1:c.1075G>A ENSP00000510624.1:n.1075G>A
ENST00000692637.1:c.15686G>A ENSP00000509666.1:p.Cys5229Tyr
XM_005269162.3:c.15689G>A XP_005269219.1:p.Cys5230Tyr
XM_005269162.4:c.15689G>A XP_005269219.1:p.Cys5230Tyr
XM_006719614.2:c.15698G>A XP_006719677.1:p.Cys5233Tyr
XM_006719614.4:c.15698G>A XP_006719677.1:p.Cys5233Tyr
XM_006719616.2:c.15686G>A XP_006719679.1:p.Cys5229Tyr
XM_006719616.3:c.15686G>A XP_006719679.1:p.Cys5229Tyr
XM_011538770.1:c.15698G>A XP_011537072.1:p.Cys5233Tyr
XM_011538770.2:c.15698G>A XP_011537072.1:p.Cys5233Tyr
XM_011538771.1:c.15695G>A XP_011537073.1:p.Cys5232Tyr
XM_011538771.2:c.15695G>A XP_011537073.1:p.Cys5232Tyr
XM_011538772.1:c.15689G>A XP_011537074.1:p.Cys5230Tyr
XM_011538772.2:c.15689G>A XP_011537074.1:p.Cys5230Tyr
XM_011538773.1:c.15686G>A XP_011537075.1:p.Cys5229Tyr
XM_011538773.2:c.15686G>A XP_011537075.1:p.Cys5229Tyr
XM_011538774.1:c.15677G>A XP_011537076.1:p.Cys5226Tyr
XM_011538774.2:c.15677G>A XP_011537076.1:p.Cys5226Tyr
XM_011538775.1:c.15632G>A XP_011537077.1:p.Cys5211Tyr
XM_011538776.1:c.15605G>A XP_011537078.1:p.Cys5202Tyr
XM_011538776.2:c.15605G>A XP_011537078.1:p.Cys5202Tyr
XR_001748874.1:n.15962-1331G>A
XR_944740.1:n.16973-1331G>A