Canonical Allele Identifier: CA6546602
Community Standard Title: NM_003482.4(KMT2D):c.10150A>T (p.Thr3384Ser)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49037206T>A , CM000674.2:g.49037206T>A GRCh38
NC_000012.11:g.49430989T>A , CM000674.1:g.49430989T>A GRCh37
NC_000012.10:g.47717256T>A NCBI36
NG_027827.1:g.23119A>T

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.10150A>T MANE Select NP_003473.3:p.Thr3384Ser
ENST00000301067.12:c.10150A>T MANE Select ENSP00000301067.7:p.Thr3384Ser
NM_003482.3:c.10150A>T NP_003473.3:p.Thr3384Ser
ENST00000301067.11:c.10150A>T ENSP00000301067.7:p.Thr3384Ser
ENST00000549743.1:n.91A>T
ENST00000683043.1:n.1849A>T
ENST00000683543.2:c.10150A>T ENSP00000506726.1:p.Thr3384Ser
ENST00000685166.1:c.10159A>T ENSP00000509386.1:p.Thr3387Ser
ENST00000687201.1:c.1714A>T ENSP00000510037.1:p.Thr572Ser
ENST00000689143.1:c.3753A>T ENSP00000509839.1:n.3753A>T
ENST00000692637.1:c.10147A>T ENSP00000509666.1:p.Thr3383Ser
ENST00000692841.1:c.1714A>T ENSP00000508711.1:p.Thr572Ser
XM_005269162.3:c.10150A>T XP_005269219.1:p.Thr3384Ser
XM_005269162.4:c.10150A>T XP_005269219.1:p.Thr3384Ser
XM_006719614.2:c.10159A>T XP_006719677.1:p.Thr3387Ser
XM_006719614.4:c.10159A>T XP_006719677.1:p.Thr3387Ser
XM_006719616.2:c.10147A>T XP_006719679.1:p.Thr3383Ser
XM_006719616.3:c.10147A>T XP_006719679.1:p.Thr3383Ser
XM_011538770.1:c.10159A>T XP_011537072.1:p.Thr3387Ser
XM_011538770.2:c.10159A>T XP_011537072.1:p.Thr3387Ser
XM_011538771.1:c.10156A>T XP_011537073.1:p.Thr3386Ser
XM_011538771.2:c.10156A>T XP_011537073.1:p.Thr3386Ser
XM_011538772.1:c.10150A>T XP_011537074.1:p.Thr3384Ser
XM_011538772.2:c.10150A>T XP_011537074.1:p.Thr3384Ser
XM_011538773.1:c.10147A>T XP_011537075.1:p.Thr3383Ser
XM_011538773.2:c.10147A>T XP_011537075.1:p.Thr3383Ser
XM_011538774.1:c.10138A>T XP_011537076.1:p.Thr3380Ser
XM_011538774.2:c.10138A>T XP_011537076.1:p.Thr3380Ser
XM_011538775.1:c.10159A>T XP_011537077.1:p.Thr3387Ser
XM_011538776.1:c.10066A>T XP_011537078.1:p.Thr3356Ser
XM_011538776.2:c.10066A>T XP_011537078.1:p.Thr3356Ser
XR_001748874.1:n.11468A>T
XR_944740.1:n.12479A>T