Canonical Allele Identifier: CA6545382

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022291G>A , CM000674.2:g.49022291G>A	GRCh38
NC_000012.11:g.49416074G>A , CM000674.1:g.49416074G>A	GRCh37
NC_000012.10:g.47702341G>A	NCBI36
NG_027827.1:g.38034C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.371C>T
ENST00000681974.1:n.1073C>T
ENST00000682693.1:n.2035C>T
ENST00000682886.1:n.807C>T
ENST00000683543.2:c.16449C>T	ENSP00000506726.1:p.Gly5483=
ENST00000683988.1:c.372C>T	ENSP00000506939.1:p.Gly124=
ENST00000684428.1:c.994C>T	ENSP00000507433.1:n.994C>T
ENST00000685024.1:c.1555C>T
ENST00000685166.1:c.16410C>T	ENSP00000509386.1:p.Gly5470=
ENST00000691932.1:c.402C>T	ENSP00000509037.1:p.Gly134=
ENST00000692637.1:c.16398C>T	ENSP00000509666.1:p.Gly5466=
ENST00000301067.12:c.16401C>T MANE Select	ENSP00000301067.7:p.Gly5467=
ENST00000301067.11:c.16401C>T	ENSP00000301067.7:p.Gly5467=
ENST00000526209.1:c.444C>T	ENSP00000435714.1:p.Gly148=
NM_003482.3:c.16401C>T	NP_003473.3:p.Gly5467=
XM_005269162.3:c.16401C>T	XP_005269219.1:p.Gly5467=
XM_006719614.2:c.16410C>T	XP_006719677.1:p.Gly5470=
XM_006719616.2:c.16398C>T	XP_006719679.1:p.Gly5466=
XM_011538770.1:c.16458C>T	XP_011537072.1:p.Gly5486=
XM_011538771.1:c.16455C>T	XP_011537073.1:p.Gly5485=
XM_011538772.1:c.16449C>T	XP_011537074.1:p.Gly5483=
XM_011538773.1:c.16446C>T	XP_011537075.1:p.Gly5482=
XM_011538774.1:c.16437C>T	XP_011537076.1:p.Gly5479=
XM_011538775.1:c.16392C>T	XP_011537077.1:p.Gly5464=
XM_011538776.1:c.16365C>T	XP_011537078.1:p.Gly5455=
XM_005269162.4:c.16401C>T	XP_005269219.1:p.Gly5467=
XM_006719614.4:c.16410C>T	XP_006719677.1:p.Gly5470=
XM_006719616.3:c.16398C>T	XP_006719679.1:p.Gly5466=
XM_011538770.2:c.16458C>T	XP_011537072.1:p.Gly5486=
XM_011538771.2:c.16455C>T	XP_011537073.1:p.Gly5485=
XM_011538772.2:c.16449C>T	XP_011537074.1:p.Gly5483=
XM_011538773.2:c.16446C>T	XP_011537075.1:p.Gly5482=
XM_011538774.2:c.16437C>T	XP_011537076.1:p.Gly5479=
XM_011538776.2:c.16365C>T	XP_011537078.1:p.Gly5455=
XR_001748874.1:n.16578C>T
NM_003482.4:c.16401C>T MANE Select	NP_003473.3:p.Gly5467=