Canonical Allele Identifier: CA381587099
Gene: KMT5B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68157899T>C , CM000673.2:g.68157899T>C GRCh38
NC_000011.9:g.67925366T>C , CM000673.1:g.67925366T>C GRCh37
NC_000011.8:g.67681942T>C NCBI36
NG_052873.1:g.60874A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000453170.6:c.2234A>G ENSP00000406377.2:p.Asp745Gly
ENST00000524672.3:n.2799A>G
ENST00000700520.1:c.*2071A>G ENSP00000515027.1:n.*2071A>G
ENST00000700521.1:c.*2114A>G ENSP00000515028.1:n.*2114A>G
ENST00000700522.1:c.*2114A>G ENSP00000515029.1:n.*2114A>G
ENST00000700523.1:c.1931A>G ENSP00000515030.1:p.Asp644Gly
ENST00000700524.1:c.*1655A>G ENSP00000515031.1:n.*1655A>G
ENST00000304363.9:c.2447A>G MANE Select ENSP00000305899.4:p.Asp816Gly
ENST00000304363.8:c.2447A>G ENSP00000305899.4:p.Asp816Gly
ENST00000441488.6:c.*1655A>G ENSP00000411146.2:n.*1655A>G
ENST00000615954.4:c.2447A>G ENSP00000484858.1:p.Asp816Gly
NM_001300907.1:c.1931A>G NP_001287836.1:p.Asp644Gly
NM_001300908.1:c.1727A>G NP_001287837.1:p.Asp576Gly
NM_017635.4:c.2447A>G NP_060105.3:p.Asp816Gly
XM_005274035.2:c.2447A>G XP_005274092.2:p.Asp816Gly
XM_005274036.2:c.2378A>G XP_005274093.2:p.Asp793Gly
XM_005274037.1:c.1931A>G XP_005274094.1:p.Asp644Gly
XM_006718581.1:c.2378A>G XP_006718644.1:p.Asp793Gly
XM_011545091.1:c.2447A>G XP_011543393.1:p.Asp816Gly
XM_011545092.1:c.2234A>G XP_011543394.1:p.Asp745Gly
XM_011545093.1:c.1205A>G XP_011543395.1:p.Asp402Gly
XM_005274035.4:c.2447A>G XP_005274092.2:p.Asp816Gly
XM_005274036.4:c.2378A>G XP_005274093.2:p.Asp793Gly
XM_006718581.2:c.2378A>G XP_006718644.1:p.Asp793Gly
XM_011545092.3:c.2234A>G XP_011543394.1:p.Asp745Gly
XM_017017876.2:c.1931A>G XP_016873365.1:p.Asp644Gly
XM_017017877.2:c.1931A>G XP_016873366.1:p.Asp644Gly
XM_017017878.2:c.1931A>G XP_016873367.1:p.Asp644Gly
XM_017017879.2:c.1931A>G XP_016873368.1:p.Asp644Gly
XM_024448570.1:c.1205A>G XP_024304338.1:p.Asp402Gly
NM_017635.5:c.2447A>G MANE Select NP_060105.3:p.Asp816Gly
NM_001300908.2:c.1727A>G NP_001287837.1:p.Asp576Gly
NM_001369426.1:c.2447A>G NP_001356355.1:p.Asp816Gly
NM_001369428.1:c.1931A>G NP_001356357.1:p.Asp644Gly
NM_001369429.1:c.1931A>G NP_001356358.1:p.Asp644Gly
NM_001369430.1:c.1931A>G NP_001356359.1:p.Asp644Gly
NM_001369431.1:c.1931A>G NP_001356360.1:p.Asp644Gly
NM_001369432.1:c.1931A>G NP_001356361.1:p.Asp644Gly
NM_001369433.1:c.1931A>G NP_001356362.1:p.Asp644Gly