Canonical Allele Identifier: CA43693561
Gene: DNMT3A HGNC NCBI

Linked Data

dbSNP Id: rs977771391
gnomAD v3: 2-25229363-C-A
gnomAD v4: 2-25229363-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25229363C>A , CM000664.2:g.25229363C>A GRCh38
NC_000002.11:g.25452232C>A , CM000664.1:g.25452232C>A GRCh37
NC_000002.10:g.25305736C>A NCBI36
NG_029465.2:g.118228G>T , LRG_459:g.118228G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321117.10:c.*4916G>T MANE Select ENSP00000324375.5:n.*4916G>T
ENST00000264709.7:c.*4916G>T ENSP00000264709.3:n.*4916G>T
NR_135490.2:n.8085G>T
NM_022552.5:c.*4916G>T MANE Select NP_072046.2:n.*4916G>T