Canonical Allele Identifier: CA6545553
Community Standard Title: NM_003482.4(KMT2D):c.15499A>G (p.Ser5167Gly)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49026467T>C , CM000674.2:g.49026467T>C GRCh38
NC_000012.11:g.49420250T>C , CM000674.1:g.49420250T>C GRCh37
NC_000012.10:g.47706517T>C NCBI36
NG_027827.1:g.33858A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.15499A>G MANE Select NP_003473.3:p.Ser5167Gly
ENST00000301067.12:c.15499A>G MANE Select ENSP00000301067.7:p.Ser5167Gly
NM_003482.3:c.15499A>G NP_003473.3:p.Ser5167Gly
ENST00000301067.11:c.15499A>G ENSP00000301067.7:p.Ser5167Gly
ENST00000683543.2:c.15499A>G ENSP00000506726.1:p.Ser5167Gly
ENST00000684428.1:c.34A>G ENSP00000507433.1:p.Ser12Gly
ENST00000684755.1:n.34A>G
ENST00000685024.1:c.624A>G
ENST00000685166.1:c.15508A>G ENSP00000509386.1:p.Ser5170Gly
ENST00000688411.1:c.261+1336A>G ENSP00000510146.1:n.261+1336A>G
ENST00000691463.1:c.885A>G ENSP00000510624.1:n.885A>G
ENST00000692637.1:c.15496A>G ENSP00000509666.1:p.Ser5166Gly
XM_005269162.3:c.15499A>G XP_005269219.1:p.Ser5167Gly
XM_005269162.4:c.15499A>G XP_005269219.1:p.Ser5167Gly
XM_006719614.2:c.15508A>G XP_006719677.1:p.Ser5170Gly
XM_006719614.4:c.15508A>G XP_006719677.1:p.Ser5170Gly
XM_006719616.2:c.15496A>G XP_006719679.1:p.Ser5166Gly
XM_006719616.3:c.15496A>G XP_006719679.1:p.Ser5166Gly
XM_011538770.1:c.15508A>G XP_011537072.1:p.Ser5170Gly
XM_011538770.2:c.15508A>G XP_011537072.1:p.Ser5170Gly
XM_011538771.1:c.15505A>G XP_011537073.1:p.Ser5169Gly
XM_011538771.2:c.15505A>G XP_011537073.1:p.Ser5169Gly
XM_011538772.1:c.15499A>G XP_011537074.1:p.Ser5167Gly
XM_011538772.2:c.15499A>G XP_011537074.1:p.Ser5167Gly
XM_011538773.1:c.15496A>G XP_011537075.1:p.Ser5166Gly
XM_011538773.2:c.15496A>G XP_011537075.1:p.Ser5166Gly
XM_011538774.1:c.15487A>G XP_011537076.1:p.Ser5163Gly
XM_011538774.2:c.15487A>G XP_011537076.1:p.Ser5163Gly
XM_011538775.1:c.15442A>G XP_011537077.1:p.Ser5148Gly
XM_011538776.1:c.15415A>G XP_011537078.1:p.Ser5139Gly
XM_011538776.2:c.15415A>G XP_011537078.1:p.Ser5139Gly
XR_001748874.1:n.15961+1336A>G
XR_944740.1:n.16972+1336A>G