Canonical Allele Identifier: CA382834528
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118491312A>T , CM000673.2:g.118491312A>T GRCh38
NC_000011.9:g.118362027A>T , CM000673.1:g.118362027A>T GRCh37
NC_000011.8:g.117867237A>T NCBI36
NG_027813.1:g.59823A>T , LRG_613:g.59823A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.4912A>T ENSP00000432391.3:p.Thr1638Ser
ENST00000710560.1:c.4909+3A>T ENSP00000518343.1:n.4909+3A>T
ENST00000685498.1:c.589A>T ENSP00000509293.1:p.Thr197Ser
ENST00000691053.1:c.4810+3A>T ENSP00000509168.1:n.4810+3A>T
ENST00000389506.10:c.4810+3A>T ENSP00000374157.5:n.4810+3A>T
ENST00000534358.8:c.4813A>T MANE Select ENSP00000436786.2:p.Thr1605Ser
ENST00000649699.1:c.4696+3A>T ENSP00000496927.1:n.4696+3A>T
ENST00000389506.9:c.4810+3A>T ENSP00000374157.5:n.4810+3A>T
ENST00000392873.3:c.946+3A>T ENSP00000376612.3:n.946+3A>T
ENST00000534358.5:c.4813A>T ENSP00000436786.1:p.Thr1605Ser
NM_001197104.1:c.4813A>T , LRG_613t1:c.4813A>T NP_001184033.1:p.Thr1605Ser
NM_005933.3:c.4810+3A>T NP_005924.2:n.4810+3A>T
XM_006718839.2:c.2296A>T XP_006718902.2:p.Thr766Ser
XM_011542829.1:c.4912A>T XP_011541131.1:p.Thr1638Ser
XM_011542830.1:c.4909A>T XP_011541132.1:p.Thr1637Ser
XM_011542831.1:c.4909+3A>T XP_011541133.1:n.4909+3A>T
XM_011542832.1:c.2719A>T XP_011541134.1:p.Thr907Ser
XM_011542833.1:c.2395A>T XP_011541135.1:p.Thr799Ser
XM_006718839.3:c.2296A>T XP_006718902.2:p.Thr766Ser
XM_011542829.2:c.4912A>T XP_011541131.1:p.Thr1638Ser
XM_011542830.2:c.4909A>T XP_011541132.1:p.Thr1637Ser
XM_011542831.2:c.4909+3A>T XP_011541133.1:n.4909+3A>T
XM_011542833.2:c.2395A>T XP_011541135.1:p.Thr799Ser
NM_001197104.2:c.4813A>T MANE Select NP_001184033.1:p.Thr1605Ser
NM_005933.4:c.4810+3A>T NP_005924.2:n.4810+3A>T