Canonical Allele Identifier: CA407447391
Community Standard Title: NM_001256715.2(DNAAF3):c.1312G>T (p.Gly438Ter)
Gene: DNAAF3 HGNC NCBI
DNAAF3-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55159376C>A , CM000681.2:g.55159376C>A GRCh38
NC_000019.9:g.55670744C>A , CM000681.1:g.55670744C>A GRCh37
NC_000019.8:g.60362556C>A NCBI36
NG_007866.2:g.3357G>T , LRG_432:g.3357G>T
NG_032759.1:g.12347G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001256715.2:c.1312G>T (DNAAF3) MANE Select NP_001243644.1:p.Gly438Ter
ENST00000524407.7:c.1312G>T (DNAAF3) MANE Select ENSP00000432046.3:p.Gly438Ter
NM_001256714.1:c.1513G>T (DNAAF3) NP_001243643.1:p.Gly505Ter
NM_001256715.1:c.1312G>T (DNAAF3) NP_001243644.1:p.Gly438Ter
NM_001256716.1:c.1150G>T (DNAAF3) NP_001243645.1:p.Gly384Ter
NM_001256716.2:c.1150G>T (DNAAF3) NP_001243645.1:p.Gly384Ter
NM_178837.4:c.1453G>T (DNAAF3) NP_849159.2:p.Gly485Ter
ENST00000391720.8:c.1453G>T (DNAAF3) ENSP00000375600.5:p.Gly485Ter
ENST00000455045.5:c.1150G>T (DNAAF3) ENSP00000394343.1:p.Gly384Ter
ENST00000524407.6:c.1312G>T (DNAAF3) ENSP00000432046.2:p.Gly438Ter
ENST00000527223.6:c.1513G>T (DNAAF3) ENSP00000436975.2:p.Gly505Ter
ENST00000528412.5:c.*1100G>T (DNAAF3) ENSP00000433826.2:n.*1100G>T
ENST00000533527.6:n.1074G>T (DNAAF3)
ENST00000587789.2:n.397G>T (DNAAF3)
ENST00000587871.1:c.296G>T
ENST00000588076.1:c.311G>T (DNAAF3)
XR_001754014.1:n.18C>A (DNAAF3-AS1)
XR_001754015.1:n.38C>A (DNAAF3-AS1)