Canonical Allele Identifier: CA384728088

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49034212A>G , CM000674.2:g.49034212A>G	GRCh38
NC_000012.11:g.49427995A>G , CM000674.1:g.49427995A>G	GRCh37
NC_000012.10:g.47714262A>G	NCBI36
NG_027827.1:g.26113T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.10595T>C MANE Select	NP_003473.3:p.Ile3532Thr
ENST00000301067.12:c.10595T>C MANE Select	ENSP00000301067.7:p.Ile3532Thr
NM_003482.3:c.10595T>C	NP_003473.3:p.Ile3532Thr
ENST00000301067.11:c.10595T>C	ENSP00000301067.7:p.Ile3532Thr
ENST00000683543.2:c.10595T>C	ENSP00000506726.1:p.Ile3532Thr
ENST00000685166.1:c.10604T>C	ENSP00000509386.1:p.Ile3535Thr
ENST00000685554.1:c.155T>C	ENSP00000508640.1:p.Ile52Thr
ENST00000687201.1:c.2174T>C	ENSP00000510037.1:p.Ile725Thr
ENST00000692637.1:c.10592T>C	ENSP00000509666.1:p.Ile3531Thr
ENST00000692841.1:c.2074T>C	ENSP00000508711.1:n.2074T>C
XM_005269162.3:c.10595T>C	XP_005269219.1:p.Ile3532Thr
XM_005269162.4:c.10595T>C	XP_005269219.1:p.Ile3532Thr
XM_006719614.2:c.10604T>C	XP_006719677.1:p.Ile3535Thr
XM_006719614.4:c.10604T>C	XP_006719677.1:p.Ile3535Thr
XM_006719616.2:c.10592T>C	XP_006719679.1:p.Ile3531Thr
XM_006719616.3:c.10592T>C	XP_006719679.1:p.Ile3531Thr
XM_011538770.1:c.10604T>C	XP_011537072.1:p.Ile3535Thr
XM_011538770.2:c.10604T>C	XP_011537072.1:p.Ile3535Thr
XM_011538771.1:c.10601T>C	XP_011537073.1:p.Ile3534Thr
XM_011538771.2:c.10601T>C	XP_011537073.1:p.Ile3534Thr
XM_011538772.1:c.10595T>C	XP_011537074.1:p.Ile3532Thr
XM_011538772.2:c.10595T>C	XP_011537074.1:p.Ile3532Thr
XM_011538773.1:c.10592T>C	XP_011537075.1:p.Ile3531Thr
XM_011538773.2:c.10592T>C	XP_011537075.1:p.Ile3531Thr
XM_011538774.1:c.10583T>C	XP_011537076.1:p.Ile3528Thr
XM_011538774.2:c.10583T>C	XP_011537076.1:p.Ile3528Thr
XM_011538775.1:c.10604T>C	XP_011537077.1:p.Ile3535Thr
XM_011538776.1:c.10511T>C	XP_011537078.1:p.Ile3504Thr
XM_011538776.2:c.10511T>C	XP_011537078.1:p.Ile3504Thr
XR_001748874.1:n.11913T>C
XR_944740.1:n.12924T>C