Canonical Allele Identifier: CA9667815
Community Standard Title: NM_001256715.2(DNAAF3):c.1255C>T (p.Arg419Trp)
Gene: DNAAF3 HGNC NCBI
DNAAF3-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55159433G>A , CM000681.2:g.55159433G>A GRCh38
NC_000019.9:g.55670801G>A , CM000681.1:g.55670801G>A GRCh37
NC_000019.8:g.60362613G>A NCBI36
NG_007866.2:g.3300C>T , LRG_432:g.3300C>T
NG_032759.1:g.12290C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001256715.2:c.1255C>T (DNAAF3) MANE Select NP_001243644.1:p.Arg419Trp
ENST00000524407.7:c.1255C>T (DNAAF3) MANE Select ENSP00000432046.3:p.Arg419Trp
NM_001256714.1:c.1456C>T (DNAAF3) NP_001243643.1:p.Arg486Trp
NM_001256715.1:c.1255C>T (DNAAF3) NP_001243644.1:p.Arg419Trp
NM_001256716.1:c.1093C>T (DNAAF3) NP_001243645.1:p.Arg365Trp
NM_001256716.2:c.1093C>T (DNAAF3) NP_001243645.1:p.Arg365Trp
NM_178837.4:c.1396C>T (DNAAF3) NP_849159.2:p.Arg466Trp
ENST00000391720.8:c.1396C>T (DNAAF3) ENSP00000375600.5:p.Arg466Trp
ENST00000455045.5:c.1093C>T (DNAAF3) ENSP00000394343.1:p.Arg365Trp
ENST00000524407.6:c.1255C>T (DNAAF3) ENSP00000432046.2:p.Arg419Trp
ENST00000527223.6:c.1456C>T (DNAAF3) ENSP00000436975.2:p.Arg486Trp
ENST00000528412.5:c.*1043C>T (DNAAF3) ENSP00000433826.2:n.*1043C>T
ENST00000533527.6:n.1017C>T (DNAAF3)
ENST00000587789.2:n.340C>T (DNAAF3)
ENST00000587871.1:c.239C>T
ENST00000588076.1:c.254C>T (DNAAF3)
XR_001754014.1:n.75G>A (DNAAF3-AS1)
XR_001754015.1:n.95G>A (DNAAF3-AS1)