Canonical Allele Identifier: CA382831774
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118488630T>G , CM000673.2:g.118488630T>G GRCh38
NC_000011.9:g.118359345T>G , CM000673.1:g.118359345T>G GRCh37
NC_000011.8:g.117864555T>G NCBI36
NG_027813.1:g.57141T>G , LRG_613:g.57141T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000531904.7:c.4448T>G ENSP00000432391.3:p.Val1483Gly
ENST00000710560.1:c.4448T>G ENSP00000518343.1:p.Val1483Gly
ENST00000420751.4:c.260T>G ENSP00000510776.1:p.Val87Gly
ENST00000685498.1:c.128T>G ENSP00000509293.1:p.Val43Gly
ENST00000691053.1:c.4349T>G ENSP00000509168.1:p.Val1450Gly
ENST00000389506.10:c.4349T>G ENSP00000374157.5:p.Val1450Gly
ENST00000534358.8:c.4349T>G MANE Select ENSP00000436786.2:p.Val1450Gly
ENST00000649699.1:c.4235T>G ENSP00000496927.1:p.Val1412Gly
ENST00000389506.9:c.4349T>G ENSP00000374157.5:p.Val1450Gly
ENST00000392873.3:c.485T>G ENSP00000376612.3:p.Val162Gly
ENST00000534358.5:c.4349T>G ENSP00000436786.1:p.Val1450Gly
NM_001197104.1:c.4349T>G , LRG_613t1:c.4349T>G NP_001184033.1:p.Val1450Gly
NM_005933.3:c.4349T>G NP_005924.2:p.Val1450Gly
XM_006718839.2:c.1832T>G XP_006718902.2:p.Val611Gly
XM_011542829.1:c.4448T>G XP_011541131.1:p.Val1483Gly
XM_011542830.1:c.4448T>G XP_011541132.1:p.Val1483Gly
XM_011542831.1:c.4448T>G XP_011541133.1:p.Val1483Gly
XM_011542832.1:c.2255T>G XP_011541134.1:p.Val752Gly
XM_011542833.1:c.1931T>G XP_011541135.1:p.Val644Gly
XM_006718839.3:c.1832T>G XP_006718902.2:p.Val611Gly
XM_011542829.2:c.4448T>G XP_011541131.1:p.Val1483Gly
XM_011542830.2:c.4448T>G XP_011541132.1:p.Val1483Gly
XM_011542831.2:c.4448T>G XP_011541133.1:p.Val1483Gly
XM_011542833.2:c.1931T>G XP_011541135.1:p.Val644Gly
NM_001197104.2:c.4349T>G MANE Select NP_001184033.1:p.Val1450Gly
NM_005933.4:c.4349T>G NP_005924.2:p.Val1450Gly