Canonical Allele Identifier: CA025069
Gene: DNAAF3 HGNC NCBI
DNAAF3-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 31533
dbSNP Id: rs387907152

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55165427G>A , CM000681.2:g.55165427G>A GRCh38
NC_000019.9:g.55676795G>A , CM000681.1:g.55676795G>A GRCh37
NC_000019.8:g.60368607G>A NCBI36
NG_032759.1:g.6296C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000524407.7:c.265C>T (DNAAF3) MANE Select ENSP00000432046.3:p.Arg89Ter
ENST00000391720.8:c.406C>T (DNAAF3) ENSP00000375600.5:p.Arg136Ter
ENST00000455045.5:c.103C>T (DNAAF3) ENSP00000394343.1:p.Arg35Ter
ENST00000524407.6:c.265C>T (DNAAF3) ENSP00000432046.2:p.Arg89Ter
ENST00000526003.5:c.265C>T (DNAAF3) ENSP00000473009.1:p.Arg89Ter
ENST00000527223.6:c.469C>T (DNAAF3) ENSP00000436975.2:p.Arg157Ter
ENST00000528412.5:c.*53C>T (DNAAF3) ENSP00000433826.2:n.*53C>T
ENST00000532817.5:c.211C>T (DNAAF3) ENSP00000432838.2:p.Arg71Ter
ENST00000534170.5:c.211C>T (DNAAF3) ENSP00000432360.2:p.Arg71Ter
ENST00000534214.1:c.*53C>T (DNAAF3) ENSP00000433247.2:n.*53C>T
NM_001256714.1:c.469C>T (DNAAF3) NP_001243643.1:p.Arg157Ter
NM_001256715.1:c.265C>T (DNAAF3) NP_001243644.1:p.Arg89Ter
NM_001256716.1:c.103C>T (DNAAF3) NP_001243645.1:p.Arg35Ter
NM_178837.4:c.406C>T (DNAAF3) NP_849159.2:p.Arg136Ter
XR_430261.2:n.201-392G>A (DNAAF3-AS1)
NM_001256715.2:c.265C>T (DNAAF3) MANE Select NP_001243644.1:p.Arg89Ter
NM_001256716.2:c.103C>T (DNAAF3) NP_001243645.1:p.Arg35Ter