Canonical Allele Identifier: CA384681700
Gene: KMT2D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49024659T>A , CM000674.2:g.49024659T>A GRCh38
NC_000012.11:g.49418442T>A , CM000674.1:g.49418442T>A GRCh37
NC_000012.10:g.47704709T>A NCBI36
NG_027827.1:g.35666A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000681974.1:n.643A>T
ENST00000683543.2:c.15971A>T ENSP00000506726.1:p.His5324Leu
ENST00000683863.1:n.1686A>T
ENST00000684428.1:c.506A>T ENSP00000507433.1:p.His169Leu
ENST00000684755.1:n.506A>T
ENST00000685024.1:c.1125A>T
ENST00000685166.1:c.15980A>T ENSP00000509386.1:p.His5327Leu
ENST00000688411.1:c.448A>T ENSP00000510146.1:n.448A>T
ENST00000691932.1:c.50A>T ENSP00000509037.1:p.His17Leu
ENST00000692637.1:c.15968A>T ENSP00000509666.1:p.His5323Leu
ENST00000301067.12:c.15971A>T MANE Select ENSP00000301067.7:p.His5324Leu
ENST00000301067.11:c.15971A>T ENSP00000301067.7:p.His5324Leu
NM_003482.3:c.15971A>T NP_003473.3:p.His5324Leu
XM_005269162.3:c.15971A>T XP_005269219.1:p.His5324Leu
XM_006719614.2:c.15980A>T XP_006719677.1:p.His5327Leu
XM_006719616.2:c.15968A>T XP_006719679.1:p.His5323Leu
XM_011538770.1:c.15980A>T XP_011537072.1:p.His5327Leu
XM_011538771.1:c.15977A>T XP_011537073.1:p.His5326Leu
XM_011538772.1:c.15971A>T XP_011537074.1:p.His5324Leu
XM_011538773.1:c.15968A>T XP_011537075.1:p.His5323Leu
XM_011538774.1:c.15959A>T XP_011537076.1:p.His5320Leu
XM_011538775.1:c.15914A>T XP_011537077.1:p.His5305Leu
XM_011538776.1:c.15887A>T XP_011537078.1:p.His5296Leu
XM_005269162.4:c.15971A>T XP_005269219.1:p.His5324Leu
XM_006719614.4:c.15980A>T XP_006719677.1:p.His5327Leu
XM_006719616.3:c.15968A>T XP_006719679.1:p.His5323Leu
XM_011538770.2:c.15980A>T XP_011537072.1:p.His5327Leu
XM_011538771.2:c.15977A>T XP_011537073.1:p.His5326Leu
XM_011538772.2:c.15971A>T XP_011537074.1:p.His5324Leu
XM_011538773.2:c.15968A>T XP_011537075.1:p.His5323Leu
XM_011538774.2:c.15959A>T XP_011537076.1:p.His5320Leu
XM_011538776.2:c.15887A>T XP_011537078.1:p.His5296Leu
XR_001748874.1:n.16148A>T
NM_003482.4:c.15971A>T MANE Select NP_003473.3:p.His5324Leu