Canonical Allele Identifier: CA381606542

Gene: KMT5B

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68175143C>T , CM000673.2:g.68175143C>T	GRCh38
NC_000011.9:g.67942610C>T , CM000673.1:g.67942610C>T	GRCh37
NC_000011.8:g.67699186C>T	NCBI36
NG_052873.1:g.43630G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453170.6:c.205G>A	ENSP00000406377.2:p.Val69Ile
ENST00000458496.2:c.205G>A	ENSP00000403233.2:p.Val69Ile
ENST00000524672.3:n.770G>A
ENST00000700520.1:c.*42G>A	ENSP00000515027.1:n.*42G>A
ENST00000700521.1:c.*85G>A	ENSP00000515028.1:n.*85G>A
ENST00000700522.1:c.*85G>A	ENSP00000515029.1:n.*85G>A
ENST00000700523.1:c.-99G>A	ENSP00000515030.1:n.-99G>A
ENST00000700524.1:c.-99G>A	ENSP00000515031.1:n.-99G>A
ENST00000700525.1:n.1310G>A
ENST00000304363.9:c.418G>A MANE Select	ENSP00000305899.4:p.Val140Ile
ENST00000304363.8:c.418G>A	ENSP00000305899.4:p.Val140Ile
ENST00000323599.10:c.75G>A
ENST00000401547.6:c.418G>A	ENSP00000385965.2:p.Val140Ile
ENST00000402185.6:c.349G>A	ENSP00000384724.2:p.Val117Ile
ENST00000402789.5:c.418G>A	ENSP00000385005.1:p.Val140Ile
ENST00000405515.5:c.418G>A	ENSP00000385640.1:p.Val140Ile
ENST00000427752.6:c.*6G>A	ENSP00000387685.2:n.*6G>A
ENST00000441488.6:c.418G>A	ENSP00000411146.2:p.Val140Ile
ENST00000453170.5:c.205G>A	ENSP00000406377.1:p.Val69Ile
ENST00000458496.1:c.205G>A	ENSP00000403233.1:p.Val69Ile
ENST00000524672.2:n.394G>A
ENST00000533271.5:n.230G>A
ENST00000615954.4:c.418G>A	ENSP00000484858.1:p.Val140Ile
NM_001300907.1:c.-99G>A	NP_001287836.1:n.-99G>A
NM_001300908.1:c.-250G>A	NP_001287837.1:n.-250G>A
NM_001300909.1:c.349G>A	NP_001287838.1:p.Val117Ile
NM_016028.4:c.418G>A	NP_057112.3:p.Val140Ile
NM_017635.4:c.418G>A	NP_060105.3:p.Val140Ile
XM_005274035.2:c.418G>A	XP_005274092.2:p.Val140Ile
XM_005274036.2:c.349G>A	XP_005274093.2:p.Val117Ile
XM_005274037.1:c.-99G>A	XP_005274094.1:n.-99G>A
XM_006718581.1:c.349G>A	XP_006718644.1:p.Val117Ile
XM_011545091.1:c.418G>A	XP_011543393.1:p.Val140Ile
XM_011545092.1:c.205G>A	XP_011543394.1:p.Val69Ile
XM_011545093.1:c.-870G>A	XP_011543395.1:n.-870G>A
XM_011545094.1:c.418G>A	XP_011543396.1:p.Val140Ile
NM_001363566.1:c.418G>A	NP_001350495.1:p.Val140Ile
XM_005274035.4:c.418G>A	XP_005274092.2:p.Val140Ile
XM_005274036.4:c.349G>A	XP_005274093.2:p.Val117Ile
XM_006718581.2:c.349G>A	XP_006718644.1:p.Val117Ile
XM_011545092.3:c.205G>A	XP_011543394.1:p.Val69Ile
XM_017017876.2:c.-99G>A	XP_016873365.1:n.-99G>A
XM_017017877.2:c.-99G>A	XP_016873366.1:n.-99G>A
XM_017017878.2:c.-99G>A	XP_016873367.1:n.-99G>A
XM_017017879.2:c.-99G>A	XP_016873368.1:n.-99G>A
XM_024448570.1:c.-870G>A	XP_024304338.1:n.-870G>A
NM_017635.5:c.418G>A MANE Select	NP_060105.3:p.Val140Ile
NM_001300908.2:c.-250G>A	NP_001287837.1:n.-250G>A
NM_001300909.2:c.349G>A	NP_001287838.1:p.Val117Ile
NM_001363566.2:c.418G>A	NP_001350495.1:p.Val140Ile
NM_001369424.1:c.-99G>A	NP_001356353.1:n.-99G>A
NM_001369425.1:c.205G>A	NP_001356354.1:p.Val69Ile
NM_001369426.1:c.418G>A	NP_001356355.1:p.Val140Ile
NM_001369427.1:c.418G>A	NP_001356356.1:p.Val140Ile
NM_001369428.1:c.-99G>A	NP_001356357.1:n.-99G>A
NM_001369429.1:c.-99G>A	NP_001356358.1:n.-99G>A
NM_001369430.1:c.-99G>A	NP_001356359.1:n.-99G>A
NM_001369431.1:c.-99G>A	NP_001356360.1:n.-99G>A
NM_001369432.1:c.-99G>A	NP_001356361.1:n.-99G>A
NM_001369433.1:c.-99G>A	NP_001356362.1:n.-99G>A
NR_161378.1:n.666G>A
NR_161379.1:n.666G>A
NR_161380.1:n.1027G>A