Canonical Allele Identifier: CA392551524
Gene: DNAAF4 HGNC NCBI
DNAAF4-CCPG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.55491197C>T , CM000677.2:g.55491197C>T GRCh38
NC_000015.9:g.55783395C>T , CM000677.1:g.55783395C>T GRCh37
NC_000015.8:g.53570687C>T NCBI36
NG_021213.1:g.22038G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000321149.7:c.331G>A (DNAAF4) MANE Select ENSP00000323275.3:p.Ala111Thr
ENST00000348518.4:c.331G>A (DNAAF4) ENSP00000299561.5:p.Ala111Thr
ENST00000448430.6:c.331G>A (DNAAF4) ENSP00000403412.2:p.Ala111Thr
ENST00000457155.6:c.331G>A (DNAAF4) ENSP00000402640.2:p.Ala111Thr
ENST00000519017.1:n.346G>A (DNAAF4)
ENST00000522437.1:c.*141G>A (DNAAF4) ENSP00000429219.1:n.*141G>A
ENST00000524160.5:c.331G>A (DNAAF4) ENSP00000428097.1:p.Ala111Thr
NM_001033559.2:c.331G>A (DNAAF4) NP_001028731.1:p.Ala111Thr
NM_001033560.1:c.331G>A (DNAAF4) NP_001028732.1:p.Ala111Thr
NM_130810.3:c.331G>A (DNAAF4) NP_570722.2:p.Ala111Thr
NR_037923.1:n.586G>A (DNAAF4-CCPG1)
NM_130810.4:c.331G>A (DNAAF4) MANE Select NP_570722.2:p.Ala111Thr
NM_001033559.3:c.331G>A (DNAAF4) NP_001028731.1:p.Ala111Thr
NM_001033560.2:c.331G>A (DNAAF4) NP_001028732.1:p.Ala111Thr