Canonical Allele Identifier: CA304149119
Gene: DOT1L HGNC NCBI

Linked Data

dbSNP Id: rs12982744
gnomAD v3: 19-2177194-C-A
gnomAD v4: 19-2177194-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2177194C>A , CM000681.2:g.2177194C>A GRCh38
NC_000019.9:g.2177193C>A , CM000681.1:g.2177193C>A GRCh37
NC_000019.8:g.2128193C>A NCBI36
NG_029793.1:g.18046C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000686010.1:c.82-3519C>A ENSP00000510335.1:n.82-3519C>A
ENST00000398665.8:c.82-3519C>A MANE Select ENSP00000381657.3:n.82-3519C>A
ENST00000398665.7:c.82-3519C>A ENSP00000381657.3:n.82-3519C>A
ENST00000452696.5:c.82-3519C>A ENSP00000404284.1:n.82-3519C>A
ENST00000478937.3:c.69-3519C>A
NM_032482.2:c.82-3519C>A NP_115871.1:n.82-3519C>A
XM_005259659.2:c.82-3519C>A XP_005259716.1:n.82-3519C>A
XM_005259660.2:c.82-3519C>A XP_005259717.1:n.82-3519C>A
XM_006722923.2:c.-539-3519C>A XP_006722986.1:n.-539-3519C>A
XM_011528359.1:c.82-3519C>A XP_011526661.1:n.82-3519C>A
XM_011528360.1:c.-222-3519C>A XP_011526662.1:n.-222-3519C>A
XM_005259659.3:c.82-3519C>A XP_005259716.1:n.82-3519C>A
XM_005259660.3:c.82-3519C>A XP_005259717.1:n.82-3519C>A
XM_011528359.2:c.82-3519C>A XP_011526661.1:n.82-3519C>A
XM_017027366.1:c.-539-3519C>A XP_016882855.1:n.-539-3519C>A
NM_032482.3:c.82-3519C>A MANE Select NP_115871.1:n.82-3519C>A