Canonical Allele Identifier: CA407448043
Gene: DNAAF3 HGNC NCBI
DNAAF3-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55159441A>G , CM000681.2:g.55159441A>G GRCh38
NC_000019.9:g.55670809A>G , CM000681.1:g.55670809A>G GRCh37
NC_000019.8:g.60362621A>G NCBI36
NG_007866.2:g.3292T>C , LRG_432:g.3292T>C
NG_032759.1:g.12282T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000524407.7:c.1247T>C (DNAAF3) MANE Select ENSP00000432046.3:p.Val416Ala
ENST00000391720.8:c.1388T>C (DNAAF3) ENSP00000375600.5:p.Val463Ala
ENST00000455045.5:c.1085T>C (DNAAF3) ENSP00000394343.1:p.Val362Ala
ENST00000524407.6:c.1247T>C (DNAAF3) ENSP00000432046.2:p.Val416Ala
ENST00000527223.6:c.1448T>C (DNAAF3) ENSP00000436975.2:p.Val483Ala
ENST00000528412.5:c.*1035T>C (DNAAF3) ENSP00000433826.2:n.*1035T>C
ENST00000533527.6:n.1009T>C (DNAAF3)
ENST00000587789.2:n.332T>C (DNAAF3)
ENST00000587871.1:c.231T>C
ENST00000588076.1:c.246T>C (DNAAF3)
NM_001256714.1:c.1448T>C (DNAAF3) NP_001243643.1:p.Val483Ala
NM_001256715.1:c.1247T>C (DNAAF3) NP_001243644.1:p.Val416Ala
NM_001256716.1:c.1085T>C (DNAAF3) NP_001243645.1:p.Val362Ala
NM_178837.4:c.1388T>C (DNAAF3) NP_849159.2:p.Val463Ala
XR_001754014.1:n.83A>G (DNAAF3-AS1)
XR_001754015.1:n.103A>G (DNAAF3-AS1)
NM_001256715.2:c.1247T>C (DNAAF3) MANE Select NP_001243644.1:p.Val416Ala
NM_001256716.2:c.1085T>C (DNAAF3) NP_001243645.1:p.Val362Ala