Canonical Allele Identifier: CA366547990

Gene: DNAAF5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.780087C>T , CM000669.2:g.780087C>T	GRCh38
NC_000007.13:g.819724C>T , CM000669.1:g.819724C>T	GRCh37
NC_000007.12:g.786250C>T	NCBI36
NG_033137.1:g.58387C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017802.4:c.2374C>T MANE Select	NP_060272.3:p.Arg792Ter
ENST00000297440.11:c.2374C>T MANE Select	ENSP00000297440.6:p.Arg792Ter
NM_017802.3:c.2374C>T	NP_060272.3:p.Arg792Ter
NR_075098.1:n.2332C>T
NR_075098.2:n.2334C>T
ENST00000297440.10:c.2374C>T	ENSP00000297440.6:p.Arg792Ter
ENST00000403952.3:c.649C>T	ENSP00000384884.3:p.Arg217Ter
ENST00000440747.5:c.1778C>T
ENST00000461576.1:n.184C>T
XM_024446813.1:c.2239+4925C>T	XP_024302581.1:n.2239+4925C>T
XM_024446814.1:c.1768C>T	XP_024302582.1:p.Arg590Ter