Canonical Allele Identifier: CA310155304
Community Standard Title: NM_001256715.2(DNAAF3):c.350G>A (p.Trp117Ter)
Gene: DNAAF3 HGNC NCBI
DNAAF3-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55162263C>T , CM000681.2:g.55162263C>T GRCh38
NC_000019.9:g.55673631C>T , CM000681.1:g.55673631C>T GRCh37
NC_000019.8:g.60365443C>T NCBI36
NG_007866.2:g.470G>A , LRG_432:g.470G>A
NG_032759.1:g.9460G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001256715.2:c.350G>A (DNAAF3) MANE Select NP_001243644.1:p.Trp117Ter
ENST00000524407.7:c.350G>A (DNAAF3) MANE Select ENSP00000432046.3:p.Trp117Ter
NM_001256714.1:c.554G>A (DNAAF3) NP_001243643.1:p.Trp185Ter
NM_001256715.1:c.350G>A (DNAAF3) NP_001243644.1:p.Trp117Ter
NM_001256716.1:c.188G>A (DNAAF3) NP_001243645.1:p.Trp63Ter
NM_001256716.2:c.188G>A (DNAAF3) NP_001243645.1:p.Trp63Ter
NM_178837.4:c.491G>A (DNAAF3) NP_849159.2:p.Trp164Ter
ENST00000391720.8:c.491G>A (DNAAF3) ENSP00000375600.5:p.Trp164Ter
ENST00000455045.5:c.188G>A (DNAAF3) ENSP00000394343.1:p.Trp63Ter
ENST00000524407.6:c.350G>A (DNAAF3) ENSP00000432046.2:p.Trp117Ter
ENST00000526003.5:c.350G>A (DNAAF3) ENSP00000473009.1:p.Trp117Ter
ENST00000526959.5:n.87G>A (DNAAF3)
ENST00000527166.1:n.199G>A (DNAAF3)
ENST00000527223.6:c.554G>A (DNAAF3) ENSP00000436975.2:p.Trp185Ter
ENST00000527292.5:n.188G>A (DNAAF3)
ENST00000528412.5:c.*138G>A (DNAAF3) ENSP00000433826.2:n.*138G>A
ENST00000532817.5:c.296G>A (DNAAF3) ENSP00000432838.2:p.Trp99Ter
ENST00000534170.5:c.296G>A (DNAAF3) ENSP00000432360.2:p.Trp99Ter
ENST00000534214.1:c.*138G>A (DNAAF3) ENSP00000433247.2:n.*138G>A
XR_001754014.1:n.257-489C>T (DNAAF3-AS1)
XR_001754015.1:n.228-489C>T (DNAAF3-AS1)
XR_430261.2:n.151-489C>T (DNAAF3-AS1)
XR_936074.1:n.266-489C>T (DNAAF3-AS1)
XR_936074.2:n.270-489C>T (DNAAF3-AS1)