Canonical Allele Identifier: CA531367728
Gene: DNMT3A HGNC NCBI

Linked Data

dbSNP Id: rs1450229505
gnomAD v2: 2-25452241-C-A
gnomAD v3: 2-25229372-C-A
gnomAD v4: 2-25229372-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25229372C>A , CM000664.2:g.25229372C>A GRCh38
NC_000002.11:g.25452241C>A , CM000664.1:g.25452241C>A GRCh37
NC_000002.10:g.25305745C>A NCBI36
NG_029465.2:g.118219G>T , LRG_459:g.118219G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321117.10:c.*4907G>T MANE Select ENSP00000324375.5:n.*4907G>T
ENST00000264709.7:c.*4907G>T ENSP00000264709.3:n.*4907G>T
NR_135490.2:n.8076G>T
NM_022552.5:c.*4907G>T MANE Select NP_072046.2:n.*4907G>T