Canonical Allele Identifier: CA382830386
Community Standard Title: NM_001197104.2(KMT2A):c.11084C>A (p.Ser3695Ter)
Gene: KMT2A HGNC NCBI
TTC36-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118511963C>A , CM000673.2:g.118511963C>A GRCh38
NC_000011.9:g.118382678C>A , CM000673.1:g.118382678C>A GRCh37
NC_000011.8:g.117887888C>A NCBI36
NG_027813.1:g.80474C>A , LRG_613:g.80474C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001197104.2:c.11084C>A (KMT2A) MANE Select NP_001184033.1:p.Ser3695Ter
ENST00000534358.8:c.11084C>A (KMT2A) MANE Select ENSP00000436786.2:p.Ser3695Ter
NM_001197104.1:c.11084C>A , LRG_613t1:c.11084C>A (KMT2A) NP_001184033.1:p.Ser3695Ter
NM_005933.3:c.11075C>A (KMT2A) NP_005924.2:p.Ser3692Ter
NM_005933.4:c.11075C>A (KMT2A) NP_005924.2:p.Ser3692Ter
NR_120574.1:n.459G>T (TTC36-AS1)
ENST00000389506.10:c.11075C>A (KMT2A) ENSP00000374157.5:p.Ser3692Ter
ENST00000389506.9:c.11075C>A (KMT2A) ENSP00000374157.5:p.Ser3692Ter
ENST00000527839.2:n.584C>A (KMT2A)
ENST00000531904.7:c.11183C>A (KMT2A) ENSP00000432391.3:p.Ser3728Ter
ENST00000534358.5:c.11084C>A (KMT2A) ENSP00000436786.1:p.Ser3695Ter
ENST00000534678.2:n.186C>A (KMT2A)
ENST00000534678.3:n.542C>A (KMT2A)
ENST00000648565.1:n.320C>A (KMT2A)
ENST00000649699.1:c.10961C>A (KMT2A) ENSP00000496927.1:p.Ser3654Ter
ENST00000649878.1:c.408C>A (KMT2A) ENSP00000497891.1:n.408C>A
ENST00000649878.2:c.5100C>A (KMT2A) ENSP00000497891.2:n.5100C>A
ENST00000685397.1:c.5042C>A (KMT2A) ENSP00000509586.1:p.Ser1681Ter
ENST00000686370.1:c.5144C>A (KMT2A) ENSP00000509179.1:p.Ser1715Ter
ENST00000686588.1:c.184C>A (KMT2A)
ENST00000691053.1:c.11156C>A (KMT2A) ENSP00000509168.1:p.Ser3719Ter
ENST00000710560.1:c.11174C>A (KMT2A) ENSP00000518343.1:p.Ser3725Ter
XM_006718839.2:c.8567C>A (KMT2A) XP_006718902.2:p.Ser2856Ter
XM_006718839.3:c.8567C>A (KMT2A) XP_006718902.2:p.Ser2856Ter
XM_011542829.1:c.11183C>A (KMT2A) XP_011541131.1:p.Ser3728Ter
XM_011542829.2:c.11183C>A (KMT2A) XP_011541131.1:p.Ser3728Ter
XM_011542830.1:c.11180C>A (KMT2A) XP_011541132.1:p.Ser3727Ter
XM_011542830.2:c.11180C>A (KMT2A) XP_011541132.1:p.Ser3727Ter
XM_011542831.1:c.11174C>A (KMT2A) XP_011541133.1:p.Ser3725Ter
XM_011542831.2:c.11174C>A (KMT2A) XP_011541133.1:p.Ser3725Ter
XM_011542832.1:c.8990C>A (KMT2A) XP_011541134.1:p.Ser2997Ter
XM_011542833.1:c.8666C>A (KMT2A) XP_011541135.1:p.Ser2889Ter
XM_011542833.2:c.8666C>A (KMT2A) XP_011541135.1:p.Ser2889Ter