Canonical Allele Identifier: CA4110403

Gene: DNAAF5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.729764G>A , CM000669.2:g.729764G>A	GRCh38
NC_000007.13:g.769401G>A , CM000669.1:g.769401G>A	GRCh37
NC_000007.12:g.735927G>A	NCBI36
NG_033137.1:g.8064G>A
NG_042811.1:g.2913C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017802.4:c.697G>A MANE Select	NP_060272.3:p.Ala233Thr
ENST00000297440.11:c.697G>A MANE Select	ENSP00000297440.6:p.Ala233Thr
NM_017802.3:c.697G>A	NP_060272.3:p.Ala233Thr
NR_075098.1:n.655G>A
NR_075098.2:n.657G>A
ENST00000297440.10:c.697G>A	ENSP00000297440.6:p.Ala233Thr
ENST00000437419.5:c.97+2449G>A
ENST00000438961.1:n.166G>A
ENST00000440747.5:c.101G>A
XM_024446813.1:c.697G>A	XP_024302581.1:p.Ala233Thr
XM_024446814.1:c.91G>A	XP_024302582.1:p.Ala31Thr