Canonical Allele Identifier: CA6546018
Community Standard Title: NM_003482.4(KMT2D):c.13463A>G (p.Asn4488Ser)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49031242T>C , CM000674.2:g.49031242T>C GRCh38
NC_000012.11:g.49425025T>C , CM000674.1:g.49425025T>C GRCh37
NC_000012.10:g.47711292T>C NCBI36
NG_027827.1:g.29083A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.13463A>G MANE Select NP_003473.3:p.Asn4488Ser
ENST00000301067.12:c.13463A>G MANE Select ENSP00000301067.7:p.Asn4488Ser
NM_003482.3:c.13463A>G NP_003473.3:p.Asn4488Ser
ENST00000301067.11:c.13463A>G ENSP00000301067.7:p.Asn4488Ser
ENST00000552391.1:n.163A>G
ENST00000552391.2:n.163A>G
ENST00000683543.2:c.13463A>G ENSP00000506726.1:p.Asn4488Ser
ENST00000685166.1:c.13472A>G ENSP00000509386.1:p.Asn4491Ser
ENST00000685554.1:c.1823A>G ENSP00000508640.1:p.Asn608Ser
ENST00000685982.1:c.71A>G ENSP00000508613.1:p.Asn24Ser
ENST00000691986.1:c.71A>G ENSP00000509196.1:p.Asn24Ser
ENST00000692637.1:c.13460A>G ENSP00000509666.1:p.Asn4487Ser
ENST00000692841.1:c.4942A>G ENSP00000508711.1:n.4942A>G
ENST00000692973.1:c.71A>G ENSP00000508893.1:p.Asn24Ser
XM_005269162.3:c.13463A>G XP_005269219.1:p.Asn4488Ser
XM_005269162.4:c.13463A>G XP_005269219.1:p.Asn4488Ser
XM_006719614.2:c.13472A>G XP_006719677.1:p.Asn4491Ser
XM_006719614.4:c.13472A>G XP_006719677.1:p.Asn4491Ser
XM_006719616.2:c.13460A>G XP_006719679.1:p.Asn4487Ser
XM_006719616.3:c.13460A>G XP_006719679.1:p.Asn4487Ser
XM_011538770.1:c.13472A>G XP_011537072.1:p.Asn4491Ser
XM_011538770.2:c.13472A>G XP_011537072.1:p.Asn4491Ser
XM_011538771.1:c.13469A>G XP_011537073.1:p.Asn4490Ser
XM_011538771.2:c.13469A>G XP_011537073.1:p.Asn4490Ser
XM_011538772.1:c.13463A>G XP_011537074.1:p.Asn4488Ser
XM_011538772.2:c.13463A>G XP_011537074.1:p.Asn4488Ser
XM_011538773.1:c.13460A>G XP_011537075.1:p.Asn4487Ser
XM_011538773.2:c.13460A>G XP_011537075.1:p.Asn4487Ser
XM_011538774.1:c.13451A>G XP_011537076.1:p.Asn4484Ser
XM_011538774.2:c.13451A>G XP_011537076.1:p.Asn4484Ser
XM_011538775.1:c.13472A>G XP_011537077.1:p.Asn4491Ser
XM_011538776.1:c.13379A>G XP_011537078.1:p.Asn4460Ser
XM_011538776.2:c.13379A>G XP_011537078.1:p.Asn4460Ser
XR_001748874.1:n.14781A>G
XR_944740.1:n.15792A>G