Canonical Allele Identifier: CA236633825

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49026687G>A , CM000674.2:g.49026687G>A	GRCh38
NC_000012.11:g.49420470G>A , CM000674.1:g.49420470G>A	GRCh37
NC_000012.10:g.47706737G>A	NCBI36
NG_027827.1:g.33638C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.15279C>T MANE Select	NP_003473.3:p.Ser5093=
ENST00000301067.12:c.15279C>T MANE Select	ENSP00000301067.7:p.Ser5093=
NM_003482.3:c.15279C>T	NP_003473.3:p.Ser5093=
ENST00000301067.11:c.15279C>T	ENSP00000301067.7:p.Ser5093=
ENST00000683543.2:c.15279C>T	ENSP00000506726.1:p.Ser5093=
ENST00000685024.1:c.404C>T
ENST00000685166.1:c.15288C>T	ENSP00000509386.1:p.Ser5096=
ENST00000688411.1:c.261+1116C>T	ENSP00000510146.1:n.261+1116C>T
ENST00000691463.1:c.665C>T	ENSP00000510624.1:n.665C>T
ENST00000692637.1:c.15276C>T	ENSP00000509666.1:p.Ser5092=
XM_005269162.3:c.15279C>T	XP_005269219.1:p.Ser5093=
XM_005269162.4:c.15279C>T	XP_005269219.1:p.Ser5093=
XM_006719614.2:c.15288C>T	XP_006719677.1:p.Ser5096=
XM_006719614.4:c.15288C>T	XP_006719677.1:p.Ser5096=
XM_006719616.2:c.15276C>T	XP_006719679.1:p.Ser5092=
XM_006719616.3:c.15276C>T	XP_006719679.1:p.Ser5092=
XM_011538770.1:c.15288C>T	XP_011537072.1:p.Ser5096=
XM_011538770.2:c.15288C>T	XP_011537072.1:p.Ser5096=
XM_011538771.1:c.15285C>T	XP_011537073.1:p.Ser5095=
XM_011538771.2:c.15285C>T	XP_011537073.1:p.Ser5095=
XM_011538772.1:c.15279C>T	XP_011537074.1:p.Ser5093=
XM_011538772.2:c.15279C>T	XP_011537074.1:p.Ser5093=
XM_011538773.1:c.15276C>T	XP_011537075.1:p.Ser5092=
XM_011538773.2:c.15276C>T	XP_011537075.1:p.Ser5092=
XM_011538774.1:c.15267C>T	XP_011537076.1:p.Ser5089=
XM_011538774.2:c.15267C>T	XP_011537076.1:p.Ser5089=
XM_011538775.1:c.15222C>T	XP_011537077.1:p.Ser5074=
XM_011538776.1:c.15195C>T	XP_011537078.1:p.Ser5065=
XM_011538776.2:c.15195C>T	XP_011537078.1:p.Ser5065=
XR_001748874.1:n.15961+1116C>T
XR_944740.1:n.16972+1116C>T