Canonical Allele Identifier: CA384679494
Community Standard Title: NM_003482.4(KMT2D):c.16061C>T (p.Thr5354Ile)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49022867G>A , CM000674.2:g.49022867G>A GRCh38
NC_000012.11:g.49416650G>A , CM000674.1:g.49416650G>A GRCh37
NC_000012.10:g.47702917G>A NCBI36
NG_027827.1:g.37458C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.16061C>T MANE Select NP_003473.3:p.Thr5354Ile
ENST00000301067.12:c.16061C>T MANE Select ENSP00000301067.7:p.Thr5354Ile
NM_003482.3:c.16061C>T NP_003473.3:p.Thr5354Ile
ENST00000301067.11:c.16061C>T ENSP00000301067.7:p.Thr5354Ile
ENST00000526209.1:c.104C>T ENSP00000435714.1:p.Thr35Ile
ENST00000526209.2:c.31C>T
ENST00000681974.1:n.733C>T
ENST00000682693.1:n.1695C>T
ENST00000682886.1:n.231C>T
ENST00000683543.2:c.16109C>T ENSP00000506726.1:p.Thr5370Ile
ENST00000683988.1:c.32C>T ENSP00000506939.1:p.Thr11Ile
ENST00000684428.1:c.596C>T ENSP00000507433.1:p.Thr199Ile
ENST00000684755.1:n.644C>T
ENST00000685024.1:c.1215C>T
ENST00000685166.1:c.16070C>T ENSP00000509386.1:p.Thr5357Ile
ENST00000688411.1:c.538C>T ENSP00000510146.1:n.538C>T
ENST00000691932.1:c.132-70C>T ENSP00000509037.1:n.132-70C>T
ENST00000692637.1:c.16058C>T ENSP00000509666.1:p.Thr5353Ile
XM_005269162.3:c.16061C>T XP_005269219.1:p.Thr5354Ile
XM_005269162.4:c.16061C>T XP_005269219.1:p.Thr5354Ile
XM_006719614.2:c.16070C>T XP_006719677.1:p.Thr5357Ile
XM_006719614.4:c.16070C>T XP_006719677.1:p.Thr5357Ile
XM_006719616.2:c.16058C>T XP_006719679.1:p.Thr5353Ile
XM_006719616.3:c.16058C>T XP_006719679.1:p.Thr5353Ile
XM_011538770.1:c.16118C>T XP_011537072.1:p.Thr5373Ile
XM_011538770.2:c.16118C>T XP_011537072.1:p.Thr5373Ile
XM_011538771.1:c.16115C>T XP_011537073.1:p.Thr5372Ile
XM_011538771.2:c.16115C>T XP_011537073.1:p.Thr5372Ile
XM_011538772.1:c.16109C>T XP_011537074.1:p.Thr5370Ile
XM_011538772.2:c.16109C>T XP_011537074.1:p.Thr5370Ile
XM_011538773.1:c.16106C>T XP_011537075.1:p.Thr5369Ile
XM_011538773.2:c.16106C>T XP_011537075.1:p.Thr5369Ile
XM_011538774.1:c.16097C>T XP_011537076.1:p.Thr5366Ile
XM_011538774.2:c.16097C>T XP_011537076.1:p.Thr5366Ile
XM_011538775.1:c.16052C>T XP_011537077.1:p.Thr5351Ile
XM_011538776.1:c.16025C>T XP_011537078.1:p.Thr5342Ile
XM_011538776.2:c.16025C>T XP_011537078.1:p.Thr5342Ile
XR_001748874.1:n.16238C>T