Canonical Allele Identifier: CA6546236

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49032553A>T , CM000674.2:g.49032553A>T	GRCh38
NC_000012.11:g.49426336A>T , CM000674.1:g.49426336A>T	GRCh37
NC_000012.10:g.47712603A>T	NCBI36
NG_027827.1:g.27772T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.12152T>A MANE Select	NP_003473.3:p.Ile4051Lys
ENST00000301067.12:c.12152T>A MANE Select	ENSP00000301067.7:p.Ile4051Lys
NM_003482.3:c.12152T>A	NP_003473.3:p.Ile4051Lys
ENST00000301067.11:c.12152T>A	ENSP00000301067.7:p.Ile4051Lys
ENST00000683543.2:c.12152T>A	ENSP00000506726.1:p.Ile4051Lys
ENST00000685166.1:c.12161T>A	ENSP00000509386.1:p.Ile4054Lys
ENST00000685554.1:c.1712T>A	ENSP00000508640.1:p.Ile571Lys
ENST00000687201.1:c.3731T>A	ENSP00000510037.1:p.Ile1244Lys
ENST00000692637.1:c.12149T>A	ENSP00000509666.1:p.Ile4050Lys
ENST00000692841.1:c.3631T>A	ENSP00000508711.1:n.3631T>A
XM_005269162.3:c.12152T>A	XP_005269219.1:p.Ile4051Lys
XM_005269162.4:c.12152T>A	XP_005269219.1:p.Ile4051Lys
XM_006719614.2:c.12161T>A	XP_006719677.1:p.Ile4054Lys
XM_006719614.4:c.12161T>A	XP_006719677.1:p.Ile4054Lys
XM_006719616.2:c.12149T>A	XP_006719679.1:p.Ile4050Lys
XM_006719616.3:c.12149T>A	XP_006719679.1:p.Ile4050Lys
XM_011538770.1:c.12161T>A	XP_011537072.1:p.Ile4054Lys
XM_011538770.2:c.12161T>A	XP_011537072.1:p.Ile4054Lys
XM_011538771.1:c.12158T>A	XP_011537073.1:p.Ile4053Lys
XM_011538771.2:c.12158T>A	XP_011537073.1:p.Ile4053Lys
XM_011538772.1:c.12152T>A	XP_011537074.1:p.Ile4051Lys
XM_011538772.2:c.12152T>A	XP_011537074.1:p.Ile4051Lys
XM_011538773.1:c.12149T>A	XP_011537075.1:p.Ile4050Lys
XM_011538773.2:c.12149T>A	XP_011537075.1:p.Ile4050Lys
XM_011538774.1:c.12140T>A	XP_011537076.1:p.Ile4047Lys
XM_011538774.2:c.12140T>A	XP_011537076.1:p.Ile4047Lys
XM_011538775.1:c.12161T>A	XP_011537077.1:p.Ile4054Lys
XM_011538776.1:c.12068T>A	XP_011537078.1:p.Ile4023Lys
XM_011538776.2:c.12068T>A	XP_011537078.1:p.Ile4023Lys
XR_001748874.1:n.13470T>A
XR_944740.1:n.14481T>A