Canonical Allele Identifier: CA382834461
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118491285C>G , CM000673.2:g.118491285C>G GRCh38
NC_000011.9:g.118362000C>G , CM000673.1:g.118362000C>G GRCh37
NC_000011.8:g.117867210C>G NCBI36
NG_027813.1:g.59796C>G , LRG_613:g.59796C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.4885C>G ENSP00000432391.3:p.His1629Asp
ENST00000710560.1:c.4885C>G ENSP00000518343.1:p.His1629Asp
ENST00000685498.1:c.562C>G ENSP00000509293.1:p.His188Asp
ENST00000691053.1:c.4786C>G ENSP00000509168.1:p.His1596Asp
ENST00000389506.10:c.4786C>G ENSP00000374157.5:p.His1596Asp
ENST00000534358.8:c.4786C>G MANE Select ENSP00000436786.2:p.His1596Asp
ENST00000649699.1:c.4672C>G ENSP00000496927.1:p.His1558Asp
ENST00000389506.9:c.4786C>G ENSP00000374157.5:p.His1596Asp
ENST00000392873.3:c.922C>G ENSP00000376612.3:p.His308Asp
ENST00000534358.5:c.4786C>G ENSP00000436786.1:p.His1596Asp
NM_001197104.1:c.4786C>G , LRG_613t1:c.4786C>G NP_001184033.1:p.His1596Asp
NM_005933.3:c.4786C>G NP_005924.2:p.His1596Asp
XM_006718839.2:c.2269C>G XP_006718902.2:p.His757Asp
XM_011542829.1:c.4885C>G XP_011541131.1:p.His1629Asp
XM_011542830.1:c.4882C>G XP_011541132.1:p.His1628Asp
XM_011542831.1:c.4885C>G XP_011541133.1:p.His1629Asp
XM_011542832.1:c.2692C>G XP_011541134.1:p.His898Asp
XM_011542833.1:c.2368C>G XP_011541135.1:p.His790Asp
XM_006718839.3:c.2269C>G XP_006718902.2:p.His757Asp
XM_011542829.2:c.4885C>G XP_011541131.1:p.His1629Asp
XM_011542830.2:c.4882C>G XP_011541132.1:p.His1628Asp
XM_011542831.2:c.4885C>G XP_011541133.1:p.His1629Asp
XM_011542833.2:c.2368C>G XP_011541135.1:p.His790Asp
NM_001197104.2:c.4786C>G MANE Select NP_001184033.1:p.His1596Asp
NM_005933.4:c.4786C>G NP_005924.2:p.His1596Asp