Canonical Allele Identifier: CA407452085
Community Standard Title: NM_001256715.2(DNAAF3):c.901C>T (p.Gln301Ter)
Gene: DNAAF3 HGNC NCBI
DNAAF3-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55161076G>A , CM000681.2:g.55161076G>A GRCh38
NC_000019.9:g.55672444G>A , CM000681.1:g.55672444G>A GRCh37
NC_000019.8:g.60364256G>A NCBI36
NG_007866.2:g.1657C>T , LRG_432:g.1657C>T
NG_032759.1:g.10647C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001256715.2:c.901C>T (DNAAF3) MANE Select NP_001243644.1:p.Gln301Ter
ENST00000524407.7:c.901C>T (DNAAF3) MANE Select ENSP00000432046.3:p.Gln301Ter
NM_001256714.1:c.1105C>T (DNAAF3) NP_001243643.1:p.Gln369Ter
NM_001256715.1:c.901C>T (DNAAF3) NP_001243644.1:p.Gln301Ter
NM_001256716.1:c.739C>T (DNAAF3) NP_001243645.1:p.Gln247Ter
NM_001256716.2:c.739C>T (DNAAF3) NP_001243645.1:p.Gln247Ter
NM_178837.4:c.1042C>T (DNAAF3) NP_849159.2:p.Gln348Ter
ENST00000391720.8:c.1042C>T (DNAAF3) ENSP00000375600.5:p.Gln348Ter
ENST00000455045.5:c.739C>T (DNAAF3) ENSP00000394343.1:p.Gln247Ter
ENST00000524407.6:c.901C>T (DNAAF3) ENSP00000432046.2:p.Gln301Ter
ENST00000527223.6:c.1105C>T (DNAAF3) ENSP00000436975.2:p.Gln369Ter
ENST00000527292.5:n.430C>T (DNAAF3)
ENST00000528412.5:c.*689C>T (DNAAF3) ENSP00000433826.2:n.*689C>T
ENST00000533527.6:n.663C>T (DNAAF3)
XR_001754014.1:n.118G>A (DNAAF3-AS1)
XR_001754015.1:n.108-19G>A (DNAAF3-AS1)
XR_430261.2:n.12G>A (DNAAF3-AS1)
XR_936074.1:n.146-19G>A (DNAAF3-AS1)
XR_936074.2:n.150-19G>A (DNAAF3-AS1)