Canonical Allele Identifier: CA384688343

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49026569A>G , CM000674.2:g.49026569A>G	GRCh38
NC_000012.11:g.49420352A>G , CM000674.1:g.49420352A>G	GRCh37
NC_000012.10:g.47706619A>G	NCBI36
NG_027827.1:g.33756T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.15397T>C MANE Select	NP_003473.3:p.Cys5133Arg
ENST00000301067.12:c.15397T>C MANE Select	ENSP00000301067.7:p.Cys5133Arg
NM_003482.3:c.15397T>C	NP_003473.3:p.Cys5133Arg
ENST00000301067.11:c.15397T>C	ENSP00000301067.7:p.Cys5133Arg
ENST00000683543.2:c.15397T>C	ENSP00000506726.1:p.Cys5133Arg
ENST00000685024.1:c.522T>C
ENST00000685166.1:c.15406T>C	ENSP00000509386.1:p.Cys5136Arg
ENST00000688411.1:c.261+1234T>C	ENSP00000510146.1:n.261+1234T>C
ENST00000691463.1:c.783T>C	ENSP00000510624.1:n.783T>C
ENST00000692637.1:c.15394T>C	ENSP00000509666.1:p.Cys5132Arg
XM_005269162.3:c.15397T>C	XP_005269219.1:p.Cys5133Arg
XM_005269162.4:c.15397T>C	XP_005269219.1:p.Cys5133Arg
XM_006719614.2:c.15406T>C	XP_006719677.1:p.Cys5136Arg
XM_006719614.4:c.15406T>C	XP_006719677.1:p.Cys5136Arg
XM_006719616.2:c.15394T>C	XP_006719679.1:p.Cys5132Arg
XM_006719616.3:c.15394T>C	XP_006719679.1:p.Cys5132Arg
XM_011538770.1:c.15406T>C	XP_011537072.1:p.Cys5136Arg
XM_011538770.2:c.15406T>C	XP_011537072.1:p.Cys5136Arg
XM_011538771.1:c.15403T>C	XP_011537073.1:p.Cys5135Arg
XM_011538771.2:c.15403T>C	XP_011537073.1:p.Cys5135Arg
XM_011538772.1:c.15397T>C	XP_011537074.1:p.Cys5133Arg
XM_011538772.2:c.15397T>C	XP_011537074.1:p.Cys5133Arg
XM_011538773.1:c.15394T>C	XP_011537075.1:p.Cys5132Arg
XM_011538773.2:c.15394T>C	XP_011537075.1:p.Cys5132Arg
XM_011538774.1:c.15385T>C	XP_011537076.1:p.Cys5129Arg
XM_011538774.2:c.15385T>C	XP_011537076.1:p.Cys5129Arg
XM_011538775.1:c.15340T>C	XP_011537077.1:p.Cys5114Arg
XM_011538776.1:c.15313T>C	XP_011537078.1:p.Cys5105Arg
XM_011538776.2:c.15313T>C	XP_011537078.1:p.Cys5105Arg
XR_001748874.1:n.15961+1234T>C
XR_944740.1:n.16972+1234T>C