Canonical Allele Identifier: CA3191757993

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49026936T= , CM000674.2:g.49026936T=	GRCh38
NC_000012.11:g.49420719T= , CM000674.1:g.49420719T=	GRCh37
NC_000012.10:g.47706986T=	NCBI36
NG_027827.1:g.33389A=

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.15030A= MANE Select	NP_003473.3:p.Ala5010=
ENST00000301067.12:c.15030A= MANE Select	ENSP00000301067.7:p.Ala5010=
NM_003482.3:c.15030A=	NP_003473.3:p.Ala5010=
ENST00000301067.11:c.15030A=	ENSP00000301067.7:p.Ala5010=
ENST00000683543.2:c.15030A=	ENSP00000506726.1:p.Ala5010=
ENST00000685024.1:c.155A=
ENST00000685166.1:c.15039A=	ENSP00000509386.1:p.Ala5013=
ENST00000688411.1:c.261+867A=	ENSP00000510146.1:n.261+867A=
ENST00000691463.1:c.416A=	ENSP00000510624.1:n.416A=
ENST00000692637.1:c.15027A=	ENSP00000509666.1:p.Ala5009=
XM_005269162.3:c.15030A=	XP_005269219.1:p.Ala5010=
XM_005269162.4:c.15030A=	XP_005269219.1:p.Ala5010=
XM_006719614.2:c.15039A=	XP_006719677.1:p.Ala5013=
XM_006719614.4:c.15039A=	XP_006719677.1:p.Ala5013=
XM_006719616.2:c.15027A=	XP_006719679.1:p.Ala5009=
XM_006719616.3:c.15027A=	XP_006719679.1:p.Ala5009=
XM_011538770.1:c.15039A=	XP_011537072.1:p.Ala5013=
XM_011538770.2:c.15039A=	XP_011537072.1:p.Ala5013=
XM_011538771.1:c.15036A=	XP_011537073.1:p.Ala5012=
XM_011538771.2:c.15036A=	XP_011537073.1:p.Ala5012=
XM_011538772.1:c.15030A=	XP_011537074.1:p.Ala5010=
XM_011538772.2:c.15030A=	XP_011537074.1:p.Ala5010=
XM_011538773.1:c.15027A=	XP_011537075.1:p.Ala5009=
XM_011538773.2:c.15027A=	XP_011537075.1:p.Ala5009=
XM_011538774.1:c.15018A=	XP_011537076.1:p.Ala5006=
XM_011538774.2:c.15018A=	XP_011537076.1:p.Ala5006=
XM_011538775.1:c.14973A=	XP_011537077.1:p.Ala4991=
XM_011538776.1:c.14946A=	XP_011537078.1:p.Ala4982=
XM_011538776.2:c.14946A=	XP_011537078.1:p.Ala4982=
XR_001748874.1:n.15961+867A=
XR_944740.1:n.16972+867A=