Canonical Allele Identifier: CA407457617
Community Standard Title: NM_001256715.2(DNAAF3):c.448C>T (p.Gln150Ter)
Gene: DNAAF3 HGNC NCBI
DNAAF3-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55162165G>A , CM000681.2:g.55162165G>A GRCh38
NC_000019.9:g.55673533G>A , CM000681.1:g.55673533G>A GRCh37
NC_000019.8:g.60365345G>A NCBI36
NG_007866.2:g.568C>T , LRG_432:g.568C>T
NG_032759.1:g.9558C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001256715.2:c.448C>T (DNAAF3) MANE Select NP_001243644.1:p.Gln150Ter
ENST00000524407.7:c.448C>T (DNAAF3) MANE Select ENSP00000432046.3:p.Gln150Ter
NM_001256714.1:c.652C>T (DNAAF3) NP_001243643.1:p.Gln218Ter
NM_001256715.1:c.448C>T (DNAAF3) NP_001243644.1:p.Gln150Ter
NM_001256716.1:c.286C>T (DNAAF3) NP_001243645.1:p.Gln96Ter
NM_001256716.2:c.286C>T (DNAAF3) NP_001243645.1:p.Gln96Ter
NM_178837.4:c.589C>T (DNAAF3) NP_849159.2:p.Gln197Ter
ENST00000391720.8:c.589C>T (DNAAF3) ENSP00000375600.5:p.Gln197Ter
ENST00000455045.5:c.286C>T (DNAAF3) ENSP00000394343.1:p.Gln96Ter
ENST00000524407.6:c.448C>T (DNAAF3) ENSP00000432046.2:p.Gln150Ter
ENST00000526003.5:c.448C>T (DNAAF3) ENSP00000473009.1:p.Gln150Ter
ENST00000526959.5:n.185C>T (DNAAF3)
ENST00000527166.1:n.297C>T (DNAAF3)
ENST00000527223.6:c.652C>T (DNAAF3) ENSP00000436975.2:p.Gln218Ter
ENST00000527292.5:n.286C>T (DNAAF3)
ENST00000528412.5:c.*236C>T (DNAAF3) ENSP00000433826.2:n.*236C>T
XR_001754014.1:n.257-587G>A (DNAAF3-AS1)
XR_001754015.1:n.228-587G>A (DNAAF3-AS1)
XR_430261.2:n.151-587G>A (DNAAF3-AS1)
XR_936074.1:n.266-587G>A (DNAAF3-AS1)
XR_936074.2:n.270-587G>A (DNAAF3-AS1)