Canonical Allele Identifier: CA9668240
Community Standard Title: NM_001256715.2(DNAAF3):c.86-60A>C
Gene: DNAAF3 HGNC NCBI
DNAAF3-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55166060T>G , CM000681.2:g.55166060T>G GRCh38
NC_000019.9:g.55677428T>G , CM000681.1:g.55677428T>G GRCh37
NC_000019.8:g.60369240T>G NCBI36
NG_032759.1:g.5663A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001256715.2:c.86-60A>C (DNAAF3) MANE Select NP_001243644.1:n.86-60A>C
ENST00000524407.7:c.86-60A>C (DNAAF3) MANE Select ENSP00000432046.3:n.86-60A>C
NM_001256714.1:c.230A>C (DNAAF3) NP_001243643.1:p.Asp77Ala
NM_001256715.1:c.86-60A>C (DNAAF3) NP_001243644.1:n.86-60A>C
NM_001256716.1:c.-153-60A>C (DNAAF3) NP_001243645.1:n.-153-60A>C
NM_001256716.2:c.-153-60A>C (DNAAF3) NP_001243645.1:n.-153-60A>C
NM_178837.4:c.227-60A>C (DNAAF3) NP_849159.2:n.227-60A>C
ENST00000391720.8:c.227-60A>C (DNAAF3) ENSP00000375600.5:n.227-60A>C
ENST00000455045.5:c.-153-60A>C (DNAAF3) ENSP00000394343.1:n.-153-60A>C
ENST00000524407.6:c.86-60A>C (DNAAF3) ENSP00000432046.2:n.86-60A>C
ENST00000526003.5:c.86-60A>C (DNAAF3) ENSP00000473009.1:n.86-60A>C
ENST00000527223.6:c.230A>C (DNAAF3) ENSP00000436975.2:p.Asp77Ala
ENST00000528412.5:c.86-60A>C (DNAAF3) ENSP00000433826.2:n.86-60A>C
ENST00000528476.1:n.304A>C (DNAAF3)
ENST00000532817.5:c.-29A>C (DNAAF3) ENSP00000432838.2:n.-29A>C
ENST00000534170.5:c.-29A>C (DNAAF3) ENSP00000432360.2:n.-29A>C
ENST00000534214.1:c.86-60A>C (DNAAF3) ENSP00000433247.2:n.86-60A>C
ENST00000586877.1:n.476A>C (DNAAF3)
XR_430261.2:n.442T>G (DNAAF3-AS1)