Canonical Allele Identifier: CA9667916
Community Standard Title: NM_001256715.2(DNAAF3):c.1075G>A (p.Val359Ile)
Gene: DNAAF3 HGNC NCBI
DNAAF3-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55159987C>T , CM000681.2:g.55159987C>T GRCh38
NC_000019.9:g.55671355C>T , CM000681.1:g.55671355C>T GRCh37
NC_000019.8:g.60363167C>T NCBI36
NG_007866.2:g.2746G>A , LRG_432:g.2746G>A
NG_032759.1:g.11736G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001256715.2:c.1075G>A (DNAAF3) MANE Select NP_001243644.1:p.Val359Ile
ENST00000524407.7:c.1075G>A (DNAAF3) MANE Select ENSP00000432046.3:p.Val359Ile
NM_001256714.1:c.1276G>A (DNAAF3) NP_001243643.1:p.Val426Ile
NM_001256715.1:c.1075G>A (DNAAF3) NP_001243644.1:p.Val359Ile
NM_001256716.1:c.913G>A (DNAAF3) NP_001243645.1:p.Val305Ile
NM_001256716.2:c.913G>A (DNAAF3) NP_001243645.1:p.Val305Ile
NM_178837.4:c.1216G>A (DNAAF3) NP_849159.2:p.Val406Ile
ENST00000391720.8:c.1216G>A (DNAAF3) ENSP00000375600.5:p.Val406Ile
ENST00000455045.5:c.913G>A (DNAAF3) ENSP00000394343.1:p.Val305Ile
ENST00000524407.6:c.1075G>A (DNAAF3) ENSP00000432046.2:p.Val359Ile
ENST00000527223.6:c.1276G>A (DNAAF3) ENSP00000436975.2:p.Val426Ile
ENST00000528412.5:c.*863G>A (DNAAF3) ENSP00000433826.2:n.*863G>A
ENST00000533527.6:n.837G>A (DNAAF3)
ENST00000587789.2:n.47G>A (DNAAF3)
ENST00000587871.1:c.59G>A
ENST00000588076.1:c.74G>A (DNAAF3)
XR_001754014.1:n.87+542C>T (DNAAF3-AS1)
XR_001754015.1:n.107+542C>T (DNAAF3-AS1)