Canonical Allele Identifier: CA229527109
Gene: KMT2A HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1784246

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118480197A>C , CM000673.2:g.118480197A>C GRCh38
NC_000011.9:g.118350912A>C , CM000673.1:g.118350912A>C GRCh37
NC_000011.8:g.117856122A>C NCBI36
NG_027813.1:g.48708A>C , LRG_613:g.48708A>C

Transcript Alleles

HGVS Amino-acid change
NM_001197104.1:c.3593A>C , LRG_613t1:c.3593A>C NP_001184033.1:p.Gln1198Pro
NM_005933.3:c.3593A>C VV NP_005924.2:p.Gln1198Pro
XM_006718839.2:c.1076A>C XP_006718902.2:p.Gln359Pro
XM_011542829.1:c.3692A>C XP_011541131.1:p.Gln1231Pro
XM_011542830.1:c.3692A>C XP_011541132.1:p.Gln1231Pro
XM_011542831.1:c.3692A>C XP_011541133.1:p.Gln1231Pro
XM_011542832.1:c.1499A>C XP_011541134.1:p.Gln500Pro
XM_011542833.1:c.1175A>C XP_011541135.1:p.Gln392Pro
XM_006718839.3:c.1076A>C XP_006718902.2:p.Gln359Pro
XM_011542829.2:c.3692A>C XP_011541131.1:p.Gln1231Pro
XM_011542830.2:c.3692A>C XP_011541132.1:p.Gln1231Pro
XM_011542831.2:c.3692A>C XP_011541133.1:p.Gln1231Pro
XM_011542833.2:c.1175A>C XP_011541135.1:p.Gln392Pro
ENST00000389506.9:n.3593A>C ENSP00000374157.5:p.Gln1198Pro
ENST00000531904.6:c.3692A>C ENSP00000432391.2:p.Gln1231Pro
ENST00000534358.5:c.3593A>C ENSP00000436786.1:p.Gln1198Pro