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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA767166181
Gene: DNMT3A
HGNC
NCBI
Linked Data
dbSNP Id:
rs150837902
gnomAD v3:
2-25229375-C-A
gnomAD v4:
2-25229375-C-A
MyVariant Identifiers:
chr2:g.25452244C>A (hg19)
chr2:g.25229375C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.25229375C>A , CM000664.2:g.25229375C>A
GRCh38
NC_000002.11:g.25452244C>A , CM000664.1:g.25452244C>A
GRCh37
NC_000002.10:g.25305748C>A
NCBI36
NG_029465.2:g.118216G>T , LRG_459:g.118216G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000321117.10:c.*4904G>T
MANE Select
ENSP00000324375.5:n.*4904G>T
ENST00000264709.7:c.*4904G>T
ENSP00000264709.3:n.*4904G>T
NR_135490.2:n.8073G>T
NM_022552.5:c.*4904G>T
MANE Select
NP_072046.2:n.*4904G>T
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