Canonical Allele Identifier: CA9667988
Community Standard Title: NM_001256715.2(DNAAF3):c.988A>G (p.Thr330Ala)
Gene: DNAAF3 HGNC NCBI
DNAAF3-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55160700T>C , CM000681.2:g.55160700T>C GRCh38
NC_000019.9:g.55672068T>C , CM000681.1:g.55672068T>C GRCh37
NC_000019.8:g.60363880T>C NCBI36
NG_007866.2:g.2033A>G , LRG_432:g.2033A>G
NG_032759.1:g.11023A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001256715.2:c.988A>G (DNAAF3) MANE Select NP_001243644.1:p.Thr330Ala
ENST00000524407.7:c.988A>G (DNAAF3) MANE Select ENSP00000432046.3:p.Thr330Ala
NM_001256714.1:c.1192A>G (DNAAF3) NP_001243643.1:p.Thr398Ala
NM_001256715.1:c.988A>G (DNAAF3) NP_001243644.1:p.Thr330Ala
NM_001256716.1:c.826A>G (DNAAF3) NP_001243645.1:p.Thr276Ala
NM_001256716.2:c.826A>G (DNAAF3) NP_001243645.1:p.Thr276Ala
NM_178837.4:c.1129A>G (DNAAF3) NP_849159.2:p.Thr377Ala
ENST00000391720.8:c.1129A>G (DNAAF3) ENSP00000375600.5:p.Thr377Ala
ENST00000455045.5:c.826A>G (DNAAF3) ENSP00000394343.1:p.Thr276Ala
ENST00000524407.6:c.988A>G (DNAAF3) ENSP00000432046.2:p.Thr330Ala
ENST00000527223.6:c.1192A>G (DNAAF3) ENSP00000436975.2:p.Thr398Ala
ENST00000528412.5:c.*776A>G (DNAAF3) ENSP00000433826.2:n.*776A>G
ENST00000533527.6:n.750A>G (DNAAF3)
XR_001754014.1:n.88-346T>C (DNAAF3-AS1)
XR_001754015.1:n.108-395T>C (DNAAF3-AS1)
XR_936074.1:n.146-395T>C (DNAAF3-AS1)
XR_936074.2:n.150-395T>C (DNAAF3-AS1)