Canonical Allele Identifier: CA6148028
Gene: KMT5B HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs144458991

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68158079T>C , CM000673.2:g.68158079T>C GRCh38
NC_000011.9:g.67925546T>C , CM000673.1:g.67925546T>C GRCh37
NC_000011.8:g.67682122T>C NCBI36
NG_052873.1:g.60694A>G

Transcript Alleles

HGVS Amino-acid change
NM_001300907.1:c.1751A>G VV NP_001287836.1:p.Asn584Ser
NM_001300908.1:c.1547A>G VV NP_001287837.1:p.Asn516Ser
NM_017635.4:c.2267A>G VV NP_060105.3:p.Asn756Ser
XM_005274035.2:c.2267A>G XP_005274092.2:p.Asn756Ser
XM_005274036.2:c.2198A>G XP_005274093.2:p.Asn733Ser
XM_005274037.1:c.1751A>G XP_005274094.1:p.Asn584Ser
XM_006718581.1:c.2198A>G XP_006718644.1:p.Asn733Ser
XM_011545091.1:c.2267A>G XP_011543393.1:p.Asn756Ser
XM_011545092.1:c.2054A>G XP_011543394.1:p.Asn685Ser
XM_011545093.1:c.1025A>G XP_011543395.1:p.Asn342Ser
XM_005274035.4:c.2267A>G XP_005274092.2:p.Asn756Ser
XM_005274036.4:c.2198A>G XP_005274093.2:p.Asn733Ser
XM_006718581.2:c.2198A>G XP_006718644.1:p.Asn733Ser
XM_011545092.3:c.2054A>G XP_011543394.1:p.Asn685Ser
XM_017017876.2:c.1751A>G XP_016873365.1:p.Asn584Ser
XM_017017877.2:c.1751A>G XP_016873366.1:p.Asn584Ser
XM_017017878.2:c.1751A>G XP_016873367.1:p.Asn584Ser
XM_017017879.2:c.1751A>G XP_016873368.1:p.Asn584Ser
XM_024448570.1:c.1025A>G XP_024304338.1:p.Asn342Ser
NM_017635.5:c.2267A>G VV MANE Preferred NP_060105.3:p.Asn756Ser
ENST00000304363.8:c.2267A>G ENSP00000305899.4:p.Asn756Ser
ENST00000441488.6:c.*1475A>G ENSP00000411146.2:p.=
ENST00000615954.4:n.2267A>G ENSP00000484858.1:p.Asn756Ser