Canonical Allele Identifier: CA382834419
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118491268A>C , CM000673.2:g.118491268A>C GRCh38
NC_000011.9:g.118361983A>C , CM000673.1:g.118361983A>C GRCh37
NC_000011.8:g.117867193A>C NCBI36
NG_027813.1:g.59779A>C , LRG_613:g.59779A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.4868A>C ENSP00000432391.3:p.Lys1623Thr
ENST00000710560.1:c.4868A>C ENSP00000518343.1:p.Lys1623Thr
ENST00000685498.1:c.545A>C ENSP00000509293.1:p.Lys182Thr
ENST00000691053.1:c.4769A>C ENSP00000509168.1:p.Lys1590Thr
ENST00000389506.10:c.4769A>C ENSP00000374157.5:p.Lys1590Thr
ENST00000534358.8:c.4769A>C MANE Select ENSP00000436786.2:p.Lys1590Thr
ENST00000649699.1:c.4655A>C ENSP00000496927.1:p.Lys1552Thr
ENST00000389506.9:c.4769A>C ENSP00000374157.5:p.Lys1590Thr
ENST00000392873.3:c.905A>C ENSP00000376612.3:p.Lys302Thr
ENST00000534358.5:c.4769A>C ENSP00000436786.1:p.Lys1590Thr
NM_001197104.1:c.4769A>C , LRG_613t1:c.4769A>C NP_001184033.1:p.Lys1590Thr
NM_005933.3:c.4769A>C NP_005924.2:p.Lys1590Thr
XM_006718839.2:c.2252A>C XP_006718902.2:p.Lys751Thr
XM_011542829.1:c.4868A>C XP_011541131.1:p.Lys1623Thr
XM_011542830.1:c.4865A>C XP_011541132.1:p.Lys1622Thr
XM_011542831.1:c.4868A>C XP_011541133.1:p.Lys1623Thr
XM_011542832.1:c.2675A>C XP_011541134.1:p.Lys892Thr
XM_011542833.1:c.2351A>C XP_011541135.1:p.Lys784Thr
XM_006718839.3:c.2252A>C XP_006718902.2:p.Lys751Thr
XM_011542829.2:c.4868A>C XP_011541131.1:p.Lys1623Thr
XM_011542830.2:c.4865A>C XP_011541132.1:p.Lys1622Thr
XM_011542831.2:c.4868A>C XP_011541133.1:p.Lys1623Thr
XM_011542833.2:c.2351A>C XP_011541135.1:p.Lys784Thr
NM_001197104.2:c.4769A>C MANE Select NP_001184033.1:p.Lys1590Thr
NM_005933.4:c.4769A>C NP_005924.2:p.Lys1590Thr