Canonical Allele Identifier: CA381587341

Gene: KMT5B

Linked Data

• dbSNP Id: rs1859420114
• gnomAD v3: 11-68157941-C-A
• gnomAD v4: 11-68157941-C-A
• MyVariant Identifiers: chr11:g.67925408C>A (hg19) ; chr11:g.68157941C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68157941C>A , CM000673.2:g.68157941C>A	GRCh38
NC_000011.9:g.67925408C>A , CM000673.1:g.67925408C>A	GRCh37
NC_000011.8:g.67681984C>A	NCBI36
NG_052873.1:g.60832G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453170.6:c.2192G>T	ENSP00000406377.2:p.Cys731Phe
ENST00000524672.3:n.2757G>T
ENST00000700520.1:c.*2029G>T	ENSP00000515027.1:n.*2029G>T
ENST00000700521.1:c.*2072G>T	ENSP00000515028.1:n.*2072G>T
ENST00000700522.1:c.*2072G>T	ENSP00000515029.1:n.*2072G>T
ENST00000700523.1:c.1889G>T	ENSP00000515030.1:p.Cys630Phe
ENST00000700524.1:c.*1613G>T	ENSP00000515031.1:n.*1613G>T
ENST00000304363.9:c.2405G>T MANE Select	ENSP00000305899.4:p.Cys802Phe
ENST00000304363.8:c.2405G>T	ENSP00000305899.4:p.Cys802Phe
ENST00000441488.6:c.*1613G>T	ENSP00000411146.2:n.*1613G>T
ENST00000615954.4:c.2405G>T	ENSP00000484858.1:p.Cys802Phe
NM_001300907.1:c.1889G>T	NP_001287836.1:p.Cys630Phe
NM_001300908.1:c.1685G>T	NP_001287837.1:p.Cys562Phe
NM_017635.4:c.2405G>T	NP_060105.3:p.Cys802Phe
XM_005274035.2:c.2405G>T	XP_005274092.2:p.Cys802Phe
XM_005274036.2:c.2336G>T	XP_005274093.2:p.Cys779Phe
XM_005274037.1:c.1889G>T	XP_005274094.1:p.Cys630Phe
XM_006718581.1:c.2336G>T	XP_006718644.1:p.Cys779Phe
XM_011545091.1:c.2405G>T	XP_011543393.1:p.Cys802Phe
XM_011545092.1:c.2192G>T	XP_011543394.1:p.Cys731Phe
XM_011545093.1:c.1163G>T	XP_011543395.1:p.Cys388Phe
XM_005274035.4:c.2405G>T	XP_005274092.2:p.Cys802Phe
XM_005274036.4:c.2336G>T	XP_005274093.2:p.Cys779Phe
XM_006718581.2:c.2336G>T	XP_006718644.1:p.Cys779Phe
XM_011545092.3:c.2192G>T	XP_011543394.1:p.Cys731Phe
XM_017017876.2:c.1889G>T	XP_016873365.1:p.Cys630Phe
XM_017017877.2:c.1889G>T	XP_016873366.1:p.Cys630Phe
XM_017017878.2:c.1889G>T	XP_016873367.1:p.Cys630Phe
XM_017017879.2:c.1889G>T	XP_016873368.1:p.Cys630Phe
XM_024448570.1:c.1163G>T	XP_024304338.1:p.Cys388Phe
NM_017635.5:c.2405G>T MANE Select	NP_060105.3:p.Cys802Phe
NM_001300908.2:c.1685G>T	NP_001287837.1:p.Cys562Phe
NM_001369426.1:c.2405G>T	NP_001356355.1:p.Cys802Phe
NM_001369428.1:c.1889G>T	NP_001356357.1:p.Cys630Phe
NM_001369429.1:c.1889G>T	NP_001356358.1:p.Cys630Phe
NM_001369430.1:c.1889G>T	NP_001356359.1:p.Cys630Phe
NM_001369431.1:c.1889G>T	NP_001356360.1:p.Cys630Phe
NM_001369432.1:c.1889G>T	NP_001356361.1:p.Cys630Phe
NM_001369433.1:c.1889G>T	NP_001356362.1:p.Cys630Phe