Canonical Allele Identifier: CA169231559
Community Standard Title: NM_170606.3(KMT2C):c.943G>A (p.Gly315Ser)
Gene: KMT2C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152273774C>T , CM000669.2:g.152273774C>T GRCh38
NG_033948.1:g.167232G>A

Transcript Alleles

HGVS Amino-acid Change
NM_170606.3:c.943G>A MANE Select NP_733751.2:p.Gly315Ser
ENST00000262189.11:c.943G>A MANE Select ENSP00000262189.6:p.Gly315Ser
NM_170606.2:c.943G>A NP_733751.2:p.Gly315Ser
ENST00000262189.10:c.943G>A ENSP00000262189.6:p.Gly315Ser
ENST00000355193.6:c.943G>A ENSP00000347325.3:p.Gly315Ser
ENST00000558084.5:c.943G>A ENSP00000453752.1:p.Gly315Ser
ENST00000679645.1:c.943G>A ENSP00000505745.1:p.Gly315Ser
ENST00000679882.1:c.943G>A ENSP00000506154.1:p.Gly315Ser
ENST00000680039.1:c.*694G>A ENSP00000506132.1:n.*694G>A
ENST00000681082.1:c.943G>A ENSP00000505908.1:p.Gly315Ser
ENST00000682280.1:n.964G>A
ENST00000682283.1:c.943G>A ENSP00000507485.1:p.Gly315Ser
ENST00000682916.1:c.94G>A ENSP00000506784.1:p.Gly32Ser
ENST00000683490.1:c.943G>A ENSP00000507385.1:p.Gly315Ser
ENST00000683616.1:c.946G>A ENSP00000507332.1:p.Gly316Ser
ENST00000684262.1:c.770G>A
ENST00000684550.1:c.943G>A ENSP00000507135.1:p.Gly315Ser
XM_005250025.3:c.946G>A XP_005250082.1:p.Gly316Ser
XM_005250025.4:c.946G>A XP_005250082.1:p.Gly316Ser
XM_005250026.2:c.943G>A XP_005250083.1:p.Gly315Ser
XM_005250026.3:c.943G>A XP_005250083.1:p.Gly315Ser
XM_005250027.3:c.946G>A XP_005250084.1:p.Gly316Ser
XM_005250027.4:c.946G>A XP_005250084.1:p.Gly316Ser
XM_005250028.3:c.946G>A XP_005250085.1:p.Gly316Ser
XM_005250028.4:c.946G>A XP_005250085.1:p.Gly316Ser
XM_005250031.3:c.946G>A XP_005250088.1:p.Gly316Ser
XM_005250031.4:c.946G>A XP_005250088.1:p.Gly316Ser
XM_006716077.2:c.946G>A XP_006716140.1:p.Gly316Ser
XM_006716077.3:c.946G>A XP_006716140.1:p.Gly316Ser
XM_006716078.2:c.946G>A XP_006716141.1:p.Gly316Ser
XM_006716078.3:c.946G>A XP_006716141.1:p.Gly316Ser
XM_006716079.2:c.946G>A XP_006716142.1:p.Gly316Ser
XM_006716079.3:c.946G>A XP_006716142.1:p.Gly316Ser
XM_011516450.1:c.946G>A XP_011514752.1:p.Gly316Ser
XM_011516450.2:c.946G>A XP_011514752.1:p.Gly316Ser
XM_011516451.1:c.946G>A XP_011514753.1:p.Gly316Ser
XM_011516451.2:c.946G>A XP_011514753.1:p.Gly316Ser
XM_011516452.1:c.946G>A XP_011514754.1:p.Gly316Ser
XM_011516452.2:c.946G>A XP_011514754.1:p.Gly316Ser
XM_011516453.1:c.946G>A XP_011514755.1:p.Gly316Ser
XM_011516453.2:c.946G>A XP_011514755.1:p.Gly316Ser
XM_011516454.1:c.31G>A XP_011514756.1:p.Gly11Ser
XM_011516454.2:c.31G>A XP_011514756.1:p.Gly11Ser
XM_011516456.1:c.946G>A XP_011514758.1:p.Gly316Ser
XM_011516456.2:c.946G>A XP_011514758.1:p.Gly316Ser
XM_017012480.1:c.946G>A XP_016867969.1:p.Gly316Ser
XM_017012481.1:c.943G>A XP_016867970.1:p.Gly315Ser
XM_017012482.1:c.946G>A XP_016867971.1:p.Gly316Ser
XM_017012483.1:c.946G>A XP_016867972.1:p.Gly316Ser
XM_017012484.1:c.946G>A XP_016867973.1:p.Gly316Ser
XM_017012485.1:c.943G>A XP_016867974.1:p.Gly315Ser
XM_017012486.1:c.946G>A XP_016867975.1:p.Gly316Ser
XM_017012487.1:c.799G>A XP_016867976.1:p.Gly267Ser
XM_017012488.1:c.946G>A XP_016867977.1:p.Gly316Ser
XM_024446852.1:c.946G>A XP_024302620.1:p.Gly316Ser
XM_024446853.1:c.946G>A XP_024302621.1:p.Gly316Ser
XR_428183.2:n.1154G>A
XR_428183.3:n.1178G>A