Canonical Allele Identifier: CA9668087
Community Standard Title: NM_001256715.2(DNAAF3):c.705C>G (p.Asp235Glu)
Gene: DNAAF3 HGNC NCBI
DNAAF3-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55161377G>C , CM000681.2:g.55161377G>C GRCh38
NC_000019.9:g.55672745G>C , CM000681.1:g.55672745G>C GRCh37
NC_000019.8:g.60364557G>C NCBI36
NG_007866.2:g.1356C>G , LRG_432:g.1356C>G
NG_032759.1:g.10346C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001256715.2:c.705C>G (DNAAF3) MANE Select NP_001243644.1:p.Asp235Glu
ENST00000524407.7:c.705C>G (DNAAF3) MANE Select ENSP00000432046.3:p.Asp235Glu
NM_001256714.1:c.909C>G (DNAAF3) NP_001243643.1:p.Asp303Glu
NM_001256715.1:c.705C>G (DNAAF3) NP_001243644.1:p.Asp235Glu
NM_001256716.1:c.543C>G (DNAAF3) NP_001243645.1:p.Asp181Glu
NM_001256716.2:c.543C>G (DNAAF3) NP_001243645.1:p.Asp181Glu
NM_178837.4:c.846C>G (DNAAF3) NP_849159.2:p.Asp282Glu
ENST00000391720.8:c.846C>G (DNAAF3) ENSP00000375600.5:p.Asp282Glu
ENST00000455045.5:c.543C>G (DNAAF3) ENSP00000394343.1:p.Asp181Glu
ENST00000524407.6:c.705C>G (DNAAF3) ENSP00000432046.2:p.Asp235Glu
ENST00000526959.5:n.442C>G (DNAAF3)
ENST00000527166.1:n.554C>G (DNAAF3)
ENST00000527223.6:c.909C>G (DNAAF3) ENSP00000436975.2:p.Asp303Glu
ENST00000527292.5:n.319-190C>G (DNAAF3)
ENST00000528412.5:c.*493C>G (DNAAF3) ENSP00000433826.2:n.*493C>G
ENST00000533527.6:n.467C>G (DNAAF3)
XR_001754014.1:n.256+163G>C (DNAAF3-AS1)
XR_001754015.1:n.227+163G>C (DNAAF3-AS1)
XR_430261.2:n.150+163G>C (DNAAF3-AS1)
XR_936074.1:n.265+163G>C (DNAAF3-AS1)
XR_936074.2:n.269+163G>C (DNAAF3-AS1)