Canonical Allele Identifier: CA9667991
Community Standard Title: NM_001256715.2(DNAAF3):c.960C>G (p.Asp320Glu)
Gene: DNAAF3 HGNC NCBI
DNAAF3-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55160728G>C , CM000681.2:g.55160728G>C GRCh38
NC_000019.9:g.55672096G>C , CM000681.1:g.55672096G>C GRCh37
NC_000019.8:g.60363908G>C NCBI36
NG_007866.2:g.2005C>G , LRG_432:g.2005C>G
NG_032759.1:g.10995C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001256715.2:c.960C>G (DNAAF3) MANE Select NP_001243644.1:p.Asp320Glu
ENST00000524407.7:c.960C>G (DNAAF3) MANE Select ENSP00000432046.3:p.Asp320Glu
NM_001256714.1:c.1164C>G (DNAAF3) NP_001243643.1:p.Asp388Glu
NM_001256715.1:c.960C>G (DNAAF3) NP_001243644.1:p.Asp320Glu
NM_001256716.1:c.798C>G (DNAAF3) NP_001243645.1:p.Asp266Glu
NM_001256716.2:c.798C>G (DNAAF3) NP_001243645.1:p.Asp266Glu
NM_178837.4:c.1101C>G (DNAAF3) NP_849159.2:p.Asp367Glu
ENST00000391720.8:c.1101C>G (DNAAF3) ENSP00000375600.5:p.Asp367Glu
ENST00000455045.5:c.798C>G (DNAAF3) ENSP00000394343.1:p.Asp266Glu
ENST00000524407.6:c.960C>G (DNAAF3) ENSP00000432046.2:p.Asp320Glu
ENST00000527223.6:c.1164C>G (DNAAF3) ENSP00000436975.2:p.Asp388Glu
ENST00000528412.5:c.*748C>G (DNAAF3) ENSP00000433826.2:n.*748C>G
ENST00000533527.6:n.722C>G (DNAAF3)
XR_001754014.1:n.88-318G>C (DNAAF3-AS1)
XR_001754015.1:n.108-367G>C (DNAAF3-AS1)
XR_936074.1:n.146-367G>C (DNAAF3-AS1)
XR_936074.2:n.150-367G>C (DNAAF3-AS1)