Canonical Allele Identifier: CA384737461

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49037836A>G , CM000674.2:g.49037836A>G	GRCh38
NC_000012.11:g.49431619A>G , CM000674.1:g.49431619A>G	GRCh37
NC_000012.10:g.47717886A>G	NCBI36
NG_027827.1:g.22489T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.9520T>C MANE Select	NP_003473.3:p.Ser3174Pro
ENST00000301067.12:c.9520T>C MANE Select	ENSP00000301067.7:p.Ser3174Pro
NM_003482.3:c.9520T>C	NP_003473.3:p.Ser3174Pro
ENST00000301067.11:c.9520T>C	ENSP00000301067.7:p.Ser3174Pro
ENST00000683043.1:n.1219T>C
ENST00000683543.2:c.9520T>C	ENSP00000506726.1:p.Ser3174Pro
ENST00000685166.1:c.9529T>C	ENSP00000509386.1:p.Ser3177Pro
ENST00000687201.1:c.1084T>C	ENSP00000510037.1:p.Ser362Pro
ENST00000689143.1:c.3123T>C	ENSP00000509839.1:n.3123T>C
ENST00000692637.1:c.9517T>C	ENSP00000509666.1:p.Ser3173Pro
ENST00000692841.1:c.1084T>C	ENSP00000508711.1:p.Ser362Pro
XM_005269162.3:c.9520T>C	XP_005269219.1:p.Ser3174Pro
XM_005269162.4:c.9520T>C	XP_005269219.1:p.Ser3174Pro
XM_006719614.2:c.9529T>C	XP_006719677.1:p.Ser3177Pro
XM_006719614.4:c.9529T>C	XP_006719677.1:p.Ser3177Pro
XM_006719616.2:c.9517T>C	XP_006719679.1:p.Ser3173Pro
XM_006719616.3:c.9517T>C	XP_006719679.1:p.Ser3173Pro
XM_011538770.1:c.9529T>C	XP_011537072.1:p.Ser3177Pro
XM_011538770.2:c.9529T>C	XP_011537072.1:p.Ser3177Pro
XM_011538771.1:c.9526T>C	XP_011537073.1:p.Ser3176Pro
XM_011538771.2:c.9526T>C	XP_011537073.1:p.Ser3176Pro
XM_011538772.1:c.9520T>C	XP_011537074.1:p.Ser3174Pro
XM_011538772.2:c.9520T>C	XP_011537074.1:p.Ser3174Pro
XM_011538773.1:c.9517T>C	XP_011537075.1:p.Ser3173Pro
XM_011538773.2:c.9517T>C	XP_011537075.1:p.Ser3173Pro
XM_011538774.1:c.9508T>C	XP_011537076.1:p.Ser3170Pro
XM_011538774.2:c.9508T>C	XP_011537076.1:p.Ser3170Pro
XM_011538775.1:c.9529T>C	XP_011537077.1:p.Ser3177Pro
XM_011538776.1:c.9436T>C	XP_011537078.1:p.Ser3146Pro
XM_011538776.2:c.9436T>C	XP_011537078.1:p.Ser3146Pro
XR_001748874.1:n.10838T>C
XR_944740.1:n.11849T>C