Canonical Allele Identifier: CA384687087
Community Standard Title: NM_003482.4(KMT2D):c.15536G>C (p.Arg5179Pro)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49026430C>G , CM000674.2:g.49026430C>G GRCh38
NC_000012.11:g.49420213C>G , CM000674.1:g.49420213C>G GRCh37
NC_000012.10:g.47706480C>G NCBI36
NG_027827.1:g.33895G>C

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.15536G>C MANE Select NP_003473.3:p.Arg5179Pro
ENST00000301067.12:c.15536G>C MANE Select ENSP00000301067.7:p.Arg5179Pro
NM_003482.3:c.15536G>C NP_003473.3:p.Arg5179Pro
ENST00000301067.11:c.15536G>C ENSP00000301067.7:p.Arg5179Pro
ENST00000683543.2:c.15536G>C ENSP00000506726.1:p.Arg5179Pro
ENST00000683863.1:n.16G>C
ENST00000684428.1:c.71G>C ENSP00000507433.1:p.Arg24Pro
ENST00000684755.1:n.71G>C
ENST00000685024.1:c.661G>C
ENST00000685166.1:c.15545G>C ENSP00000509386.1:p.Arg5182Pro
ENST00000688411.1:c.261+1373G>C ENSP00000510146.1:n.261+1373G>C
ENST00000691463.1:c.922G>C ENSP00000510624.1:n.922G>C
ENST00000692637.1:c.15533G>C ENSP00000509666.1:p.Arg5178Pro
XM_005269162.3:c.15536G>C XP_005269219.1:p.Arg5179Pro
XM_005269162.4:c.15536G>C XP_005269219.1:p.Arg5179Pro
XM_006719614.2:c.15545G>C XP_006719677.1:p.Arg5182Pro
XM_006719614.4:c.15545G>C XP_006719677.1:p.Arg5182Pro
XM_006719616.2:c.15533G>C XP_006719679.1:p.Arg5178Pro
XM_006719616.3:c.15533G>C XP_006719679.1:p.Arg5178Pro
XM_011538770.1:c.15545G>C XP_011537072.1:p.Arg5182Pro
XM_011538770.2:c.15545G>C XP_011537072.1:p.Arg5182Pro
XM_011538771.1:c.15542G>C XP_011537073.1:p.Arg5181Pro
XM_011538771.2:c.15542G>C XP_011537073.1:p.Arg5181Pro
XM_011538772.1:c.15536G>C XP_011537074.1:p.Arg5179Pro
XM_011538772.2:c.15536G>C XP_011537074.1:p.Arg5179Pro
XM_011538773.1:c.15533G>C XP_011537075.1:p.Arg5178Pro
XM_011538773.2:c.15533G>C XP_011537075.1:p.Arg5178Pro
XM_011538774.1:c.15524G>C XP_011537076.1:p.Arg5175Pro
XM_011538774.2:c.15524G>C XP_011537076.1:p.Arg5175Pro
XM_011538775.1:c.15479G>C XP_011537077.1:p.Arg5160Pro
XM_011538776.1:c.15452G>C XP_011537078.1:p.Arg5151Pro
XM_011538776.2:c.15452G>C XP_011537078.1:p.Arg5151Pro
XR_001748874.1:n.15961+1373G>C
XR_944740.1:n.16972+1373G>C