Canonical Allele Identifier: CA236633541
Community Standard Title: NM_003482.4(KMT2D):c.15767C>G (p.Thr5256Ser)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49026199G>C , CM000674.2:g.49026199G>C GRCh38
NC_000012.11:g.49419982G>C , CM000674.1:g.49419982G>C GRCh37
NC_000012.10:g.47706249G>C NCBI36
NG_027827.1:g.34126C>G

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.15767C>G MANE Select NP_003473.3:p.Thr5256Ser
ENST00000301067.12:c.15767C>G MANE Select ENSP00000301067.7:p.Thr5256Ser
NM_003482.3:c.15767C>G NP_003473.3:p.Thr5256Ser
ENST00000301067.11:c.15767C>G ENSP00000301067.7:p.Thr5256Ser
ENST00000683543.2:c.15767C>G ENSP00000506726.1:p.Thr5256Ser
ENST00000683863.1:n.247C>G
ENST00000684428.1:c.302C>G ENSP00000507433.1:p.Thr101Ser
ENST00000684755.1:n.302C>G
ENST00000685024.1:c.892C>G
ENST00000685166.1:c.15776C>G ENSP00000509386.1:p.Thr5259Ser
ENST00000688411.1:c.262-1253C>G ENSP00000510146.1:n.262-1253C>G
ENST00000691463.1:c.1153C>G ENSP00000510624.1:n.1153C>G
ENST00000692637.1:c.15764C>G ENSP00000509666.1:p.Thr5255Ser
XM_005269162.3:c.15767C>G XP_005269219.1:p.Thr5256Ser
XM_005269162.4:c.15767C>G XP_005269219.1:p.Thr5256Ser
XM_006719614.2:c.15776C>G XP_006719677.1:p.Thr5259Ser
XM_006719614.4:c.15776C>G XP_006719677.1:p.Thr5259Ser
XM_006719616.2:c.15764C>G XP_006719679.1:p.Thr5255Ser
XM_006719616.3:c.15764C>G XP_006719679.1:p.Thr5255Ser
XM_011538770.1:c.15776C>G XP_011537072.1:p.Thr5259Ser
XM_011538770.2:c.15776C>G XP_011537072.1:p.Thr5259Ser
XM_011538771.1:c.15773C>G XP_011537073.1:p.Thr5258Ser
XM_011538771.2:c.15773C>G XP_011537073.1:p.Thr5258Ser
XM_011538772.1:c.15767C>G XP_011537074.1:p.Thr5256Ser
XM_011538772.2:c.15767C>G XP_011537074.1:p.Thr5256Ser
XM_011538773.1:c.15764C>G XP_011537075.1:p.Thr5255Ser
XM_011538773.2:c.15764C>G XP_011537075.1:p.Thr5255Ser
XM_011538774.1:c.15755C>G XP_011537076.1:p.Thr5252Ser
XM_011538774.2:c.15755C>G XP_011537076.1:p.Thr5252Ser
XM_011538775.1:c.15710C>G XP_011537077.1:p.Thr5237Ser
XM_011538776.1:c.15683C>G XP_011537078.1:p.Thr5228Ser
XM_011538776.2:c.15683C>G XP_011537078.1:p.Thr5228Ser
XR_001748874.1:n.15962-1253C>G
XR_944740.1:n.16973-1253C>G