Canonical Allele Identifier: CA382826659
Community Standard Title: NM_001197104.2(KMT2A):c.10657G>C (p.Gly3553Arg)
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118506549G>C , CM000673.2:g.118506549G>C GRCh38
NC_000011.9:g.118377264G>C , CM000673.1:g.118377264G>C GRCh37
NC_000011.8:g.117882474G>C NCBI36
NG_027813.1:g.75060G>C , LRG_613:g.75060G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.10657G>C MANE Select NP_001184033.1:p.Gly3553Arg
ENST00000534358.8:c.10657G>C MANE Select ENSP00000436786.2:p.Gly3553Arg
NM_001197104.1:c.10657G>C , LRG_613t1:c.10657G>C NP_001184033.1:p.Gly3553Arg
NM_005933.3:c.10648G>C NP_005924.2:p.Gly3550Arg
NM_005933.4:c.10648G>C NP_005924.2:p.Gly3550Arg
ENST00000389506.10:c.10648G>C ENSP00000374157.5:p.Gly3550Arg
ENST00000389506.9:c.10648G>C ENSP00000374157.5:p.Gly3550Arg
ENST00000531904.7:c.10756G>C ENSP00000432391.3:p.Gly3586Arg
ENST00000534085.2:n.936G>C
ENST00000534358.5:c.10657G>C ENSP00000436786.1:p.Gly3553Arg
ENST00000647944.1:c.286G>C ENSP00000498134.1:p.Gly96Arg
ENST00000649699.1:c.10534G>C ENSP00000496927.1:p.Gly3512Arg
ENST00000649878.1:c.4G>C ENSP00000497891.1:p.Gly2Arg
ENST00000649878.2:c.4696G>C ENSP00000497891.2:p.Gly1566Arg
ENST00000685397.1:c.4696G>C ENSP00000509586.1:p.Gly1566Arg
ENST00000686370.1:c.4696G>C ENSP00000509179.1:p.Gly1566Arg
ENST00000689424.1:c.4954G>C ENSP00000509852.1:p.Gly1652Arg
ENST00000691053.1:c.10729G>C ENSP00000509168.1:p.Gly3577Arg
ENST00000710560.1:c.10747G>C ENSP00000518343.1:p.Gly3583Arg
XM_006718839.2:c.8140G>C XP_006718902.2:p.Gly2714Arg
XM_006718839.3:c.8140G>C XP_006718902.2:p.Gly2714Arg
XM_011542829.1:c.10756G>C XP_011541131.1:p.Gly3586Arg
XM_011542829.2:c.10756G>C XP_011541131.1:p.Gly3586Arg
XM_011542830.1:c.10753G>C XP_011541132.1:p.Gly3585Arg
XM_011542830.2:c.10753G>C XP_011541132.1:p.Gly3585Arg
XM_011542831.1:c.10747G>C XP_011541133.1:p.Gly3583Arg
XM_011542831.2:c.10747G>C XP_011541133.1:p.Gly3583Arg
XM_011542832.1:c.8563G>C XP_011541134.1:p.Gly2855Arg
XM_011542833.1:c.8239G>C XP_011541135.1:p.Gly2747Arg
XM_011542833.2:c.8239G>C XP_011541135.1:p.Gly2747Arg