Canonical Allele Identifier: CA384681291
Community Standard Title: NM_003482.4(KMT2D):c.16019G>A (p.Arg5340Gln)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49024611C>T , CM000674.2:g.49024611C>T GRCh38
NC_000012.11:g.49418394C>T , CM000674.1:g.49418394C>T GRCh37
NC_000012.10:g.47704661C>T NCBI36
NG_027827.1:g.35714G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.16019G>A MANE Select NP_003473.3:p.Arg5340Gln
ENST00000301067.12:c.16019G>A MANE Select ENSP00000301067.7:p.Arg5340Gln
NM_003482.3:c.16019G>A NP_003473.3:p.Arg5340Gln
ENST00000301067.11:c.16019G>A ENSP00000301067.7:p.Arg5340Gln
ENST00000526209.1:c.14G>A ENSP00000435714.1:p.Arg5Gln
ENST00000681974.1:n.691G>A
ENST00000683543.2:c.16019G>A ENSP00000506726.1:p.Arg5340Gln
ENST00000683863.1:n.1734G>A
ENST00000684428.1:c.554G>A ENSP00000507433.1:p.Arg185Gln
ENST00000684755.1:n.554G>A
ENST00000685024.1:c.1173G>A
ENST00000685166.1:c.16028G>A ENSP00000509386.1:p.Arg5343Gln
ENST00000688411.1:c.496G>A ENSP00000510146.1:n.496G>A
ENST00000691932.1:c.98G>A ENSP00000509037.1:p.Arg33Gln
ENST00000692637.1:c.16016G>A ENSP00000509666.1:p.Arg5339Gln
XM_005269162.3:c.16019G>A XP_005269219.1:p.Arg5340Gln
XM_005269162.4:c.16019G>A XP_005269219.1:p.Arg5340Gln
XM_006719614.2:c.16028G>A XP_006719677.1:p.Arg5343Gln
XM_006719614.4:c.16028G>A XP_006719677.1:p.Arg5343Gln
XM_006719616.2:c.16016G>A XP_006719679.1:p.Arg5339Gln
XM_006719616.3:c.16016G>A XP_006719679.1:p.Arg5339Gln
XM_011538770.1:c.16028G>A XP_011537072.1:p.Arg5343Gln
XM_011538770.2:c.16028G>A XP_011537072.1:p.Arg5343Gln
XM_011538771.1:c.16025G>A XP_011537073.1:p.Arg5342Gln
XM_011538771.2:c.16025G>A XP_011537073.1:p.Arg5342Gln
XM_011538772.1:c.16019G>A XP_011537074.1:p.Arg5340Gln
XM_011538772.2:c.16019G>A XP_011537074.1:p.Arg5340Gln
XM_011538773.1:c.16016G>A XP_011537075.1:p.Arg5339Gln
XM_011538773.2:c.16016G>A XP_011537075.1:p.Arg5339Gln
XM_011538774.1:c.16007G>A XP_011537076.1:p.Arg5336Gln
XM_011538774.2:c.16007G>A XP_011537076.1:p.Arg5336Gln
XM_011538775.1:c.15962G>A XP_011537077.1:p.Arg5321Gln
XM_011538776.1:c.15935G>A XP_011537078.1:p.Arg5312Gln
XM_011538776.2:c.15935G>A XP_011537078.1:p.Arg5312Gln
XR_001748874.1:n.16196G>A