Canonical Allele Identifier: CA382834287
Gene: KMT2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118491217A>T , CM000673.2:g.118491217A>T GRCh38
NC_000011.9:g.118361932A>T , CM000673.1:g.118361932A>T GRCh37
NC_000011.8:g.117867142A>T NCBI36
NG_027813.1:g.59728A>T , LRG_613:g.59728A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.4817A>T ENSP00000432391.3:p.Asp1606Val
ENST00000710560.1:c.4817A>T ENSP00000518343.1:p.Asp1606Val
ENST00000685498.1:c.494A>T ENSP00000509293.1:p.Asp165Val
ENST00000691053.1:c.4718A>T ENSP00000509168.1:p.Asp1573Val
ENST00000389506.10:c.4718A>T ENSP00000374157.5:p.Asp1573Val
ENST00000534358.8:c.4718A>T MANE Select ENSP00000436786.2:p.Asp1573Val
ENST00000649699.1:c.4604A>T ENSP00000496927.1:p.Asp1535Val
ENST00000389506.9:c.4718A>T ENSP00000374157.5:p.Asp1573Val
ENST00000392873.3:c.854A>T ENSP00000376612.3:p.Asp285Val
ENST00000534358.5:c.4718A>T ENSP00000436786.1:p.Asp1573Val
NM_001197104.1:c.4718A>T , LRG_613t1:c.4718A>T NP_001184033.1:p.Asp1573Val
NM_005933.3:c.4718A>T NP_005924.2:p.Asp1573Val
XM_006718839.2:c.2201A>T XP_006718902.2:p.Asp734Val
XM_011542829.1:c.4817A>T XP_011541131.1:p.Asp1606Val
XM_011542830.1:c.4814A>T XP_011541132.1:p.Asp1605Val
XM_011542831.1:c.4817A>T XP_011541133.1:p.Asp1606Val
XM_011542832.1:c.2624A>T XP_011541134.1:p.Asp875Val
XM_011542833.1:c.2300A>T XP_011541135.1:p.Asp767Val
XM_006718839.3:c.2201A>T XP_006718902.2:p.Asp734Val
XM_011542829.2:c.4817A>T XP_011541131.1:p.Asp1606Val
XM_011542830.2:c.4814A>T XP_011541132.1:p.Asp1605Val
XM_011542831.2:c.4817A>T XP_011541133.1:p.Asp1606Val
XM_011542833.2:c.2300A>T XP_011541135.1:p.Asp767Val
NM_001197104.2:c.4718A>T MANE Select NP_001184033.1:p.Asp1573Val
NM_005933.4:c.4718A>T NP_005924.2:p.Asp1573Val