Canonical Allele Identifier: CA479521689
Gene: KMT2D HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.49418438G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49024655G>T , CM000674.2:g.49024655G>T GRCh38
NC_000012.11:g.49418438G>T , CM000674.1:g.49418438G>T GRCh37
NC_000012.10:g.47704705G>T NCBI36
NG_027827.1:g.35670C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000681974.1:n.647C>A
ENST00000683543.2:c.15975C>A ENSP00000506726.1:p.Pro5325=
ENST00000683863.1:n.1690C>A
ENST00000684428.1:c.510C>A ENSP00000507433.1:p.Pro170=
ENST00000684755.1:n.510C>A
ENST00000685024.1:c.1129C>A
ENST00000685166.1:c.15984C>A ENSP00000509386.1:p.Pro5328=
ENST00000688411.1:c.452C>A ENSP00000510146.1:n.452C>A
ENST00000691932.1:c.54C>A ENSP00000509037.1:p.Pro18=
ENST00000692637.1:c.15972C>A ENSP00000509666.1:p.Pro5324=
ENST00000301067.12:c.15975C>A MANE Select ENSP00000301067.7:p.Pro5325=
ENST00000301067.11:c.15975C>A ENSP00000301067.7:p.Pro5325=
NM_003482.3:c.15975C>A NP_003473.3:p.Pro5325=
XM_005269162.3:c.15975C>A XP_005269219.1:p.Pro5325=
XM_006719614.2:c.15984C>A XP_006719677.1:p.Pro5328=
XM_006719616.2:c.15972C>A XP_006719679.1:p.Pro5324=
XM_011538770.1:c.15984C>A XP_011537072.1:p.Pro5328=
XM_011538771.1:c.15981C>A XP_011537073.1:p.Pro5327=
XM_011538772.1:c.15975C>A XP_011537074.1:p.Pro5325=
XM_011538773.1:c.15972C>A XP_011537075.1:p.Pro5324=
XM_011538774.1:c.15963C>A XP_011537076.1:p.Pro5321=
XM_011538775.1:c.15918C>A XP_011537077.1:p.Pro5306=
XM_011538776.1:c.15891C>A XP_011537078.1:p.Pro5297=
XM_005269162.4:c.15975C>A XP_005269219.1:p.Pro5325=
XM_006719614.4:c.15984C>A XP_006719677.1:p.Pro5328=
XM_006719616.3:c.15972C>A XP_006719679.1:p.Pro5324=
XM_011538770.2:c.15984C>A XP_011537072.1:p.Pro5328=
XM_011538771.2:c.15981C>A XP_011537073.1:p.Pro5327=
XM_011538772.2:c.15975C>A XP_011537074.1:p.Pro5325=
XM_011538773.2:c.15972C>A XP_011537075.1:p.Pro5324=
XM_011538774.2:c.15963C>A XP_011537076.1:p.Pro5321=
XM_011538776.2:c.15891C>A XP_011537078.1:p.Pro5297=
XR_001748874.1:n.16152C>A
NM_003482.4:c.15975C>A MANE Select NP_003473.3:p.Pro5325=