Canonical Allele Identifier: CA382798525
Community Standard Title: NM_001197104.2(KMT2A):c.5828G>A (p.Gly1943Glu)
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118498395G>A , CM000673.2:g.118498395G>A GRCh38
NC_000011.9:g.118369110G>A , CM000673.1:g.118369110G>A GRCh37
NC_000011.8:g.117874320G>A NCBI36
NG_027813.1:g.66906G>A , LRG_613:g.66906G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.5828G>A MANE Select NP_001184033.1:p.Gly1943Glu
ENST00000534358.8:c.5828G>A MANE Select ENSP00000436786.2:p.Gly1943Glu
NM_001197104.1:c.5828G>A , LRG_613t1:c.5828G>A NP_001184033.1:p.Gly1943Glu
NM_005933.3:c.5819G>A NP_005924.2:p.Gly1940Glu
NM_005933.4:c.5819G>A NP_005924.2:p.Gly1940Glu
ENST00000389506.10:c.5819G>A ENSP00000374157.5:p.Gly1940Glu
ENST00000389506.9:c.5819G>A ENSP00000374157.5:p.Gly1940Glu
ENST00000528278.2:n.2909G>A
ENST00000531904.7:c.5927G>A ENSP00000432391.3:p.Gly1976Glu
ENST00000534358.5:c.5828G>A ENSP00000436786.1:p.Gly1943Glu
ENST00000649699.1:c.5705G>A ENSP00000496927.1:p.Gly1902Glu
ENST00000689424.1:c.164G>A ENSP00000509852.1:p.Gly55Glu
ENST00000691053.1:c.5900G>A ENSP00000509168.1:p.Gly1967Glu
ENST00000710560.1:c.5918G>A ENSP00000518343.1:p.Gly1973Glu
XM_006718839.2:c.3311G>A XP_006718902.2:p.Gly1104Glu
XM_006718839.3:c.3311G>A XP_006718902.2:p.Gly1104Glu
XM_011542829.1:c.5927G>A XP_011541131.1:p.Gly1976Glu
XM_011542829.2:c.5927G>A XP_011541131.1:p.Gly1976Glu
XM_011542830.1:c.5924G>A XP_011541132.1:p.Gly1975Glu
XM_011542830.2:c.5924G>A XP_011541132.1:p.Gly1975Glu
XM_011542831.1:c.5918G>A XP_011541133.1:p.Gly1973Glu
XM_011542831.2:c.5918G>A XP_011541133.1:p.Gly1973Glu
XM_011542832.1:c.3734G>A XP_011541134.1:p.Gly1245Glu
XM_011542833.1:c.3410G>A XP_011541135.1:p.Gly1137Glu
XM_011542833.2:c.3410G>A XP_011541135.1:p.Gly1137Glu