Canonical Allele Identifier: CA250368

Gene: KMT2A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118495830C>A , CM000673.2:g.118495830C>A	GRCh38
NC_000011.9:g.118366545C>A , CM000673.1:g.118366545C>A	GRCh37
NC_000011.8:g.117871755C>A	NCBI36
NG_027813.1:g.64341C>A , LRG_613:g.64341C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001197104.2:c.5494C>A MANE Select	NP_001184033.1:p.Pro1832Thr
ENST00000534358.8:c.5494C>A MANE Select	ENSP00000436786.2:p.Pro1832Thr
NM_001197104.1:c.5494C>A , LRG_613t1:c.5494C>A	NP_001184033.1:p.Pro1832Thr
NM_005933.3:c.5485C>A	NP_005924.2:p.Pro1829Thr
NM_005933.4:c.5485C>A	NP_005924.2:p.Pro1829Thr
ENST00000389506.10:c.5485C>A	ENSP00000374157.5:p.Pro1829Thr
ENST00000389506.9:c.5485C>A	ENSP00000374157.5:p.Pro1829Thr
ENST00000528278.2:n.640C>A
ENST00000531904.7:c.5593C>A	ENSP00000432391.3:p.Pro1865Thr
ENST00000534358.5:c.5494C>A	ENSP00000436786.1:p.Pro1832Thr
ENST00000649699.1:c.5371C>A	ENSP00000496927.1:p.Pro1791Thr
ENST00000691002.1:c.431C>A
ENST00000691053.1:c.5485C>A	ENSP00000509168.1:p.Pro1829Thr
ENST00000693536.1:c.376C>A
ENST00000710560.1:c.5584C>A	ENSP00000518343.1:p.Pro1862Thr
XM_006718839.2:c.2977C>A	XP_006718902.2:p.Pro993Thr
XM_006718839.3:c.2977C>A	XP_006718902.2:p.Pro993Thr
XM_011542829.1:c.5593C>A	XP_011541131.1:p.Pro1865Thr
XM_011542829.2:c.5593C>A	XP_011541131.1:p.Pro1865Thr
XM_011542830.1:c.5590C>A	XP_011541132.1:p.Pro1864Thr
XM_011542830.2:c.5590C>A	XP_011541132.1:p.Pro1864Thr
XM_011542831.1:c.5584C>A	XP_011541133.1:p.Pro1862Thr
XM_011542831.2:c.5584C>A	XP_011541133.1:p.Pro1862Thr
XM_011542832.1:c.3400C>A	XP_011541134.1:p.Pro1134Thr
XM_011542833.1:c.3076C>A	XP_011541135.1:p.Pro1026Thr
XM_011542833.2:c.3076C>A	XP_011541135.1:p.Pro1026Thr