Canonical Allele Identifier: CA152356947

Gene: DNAAF5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.780138A>G , CM000669.2:g.780138A>G	GRCh38
NC_000007.13:g.819775A>G , CM000669.1:g.819775A>G	GRCh37
NC_000007.12:g.786301A>G	NCBI36
NG_033137.1:g.58438A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_017802.4:c.2425A>G MANE Select	NP_060272.3:p.Ile809Val
ENST00000297440.11:c.2425A>G MANE Select	ENSP00000297440.6:p.Ile809Val
NM_017802.3:c.2425A>G	NP_060272.3:p.Ile809Val
NR_075098.1:n.2383A>G
NR_075098.2:n.2385A>G
ENST00000297440.10:c.2425A>G	ENSP00000297440.6:p.Ile809Val
ENST00000403952.3:c.700A>G	ENSP00000384884.3:p.Ile234Val
ENST00000440747.5:c.1829A>G
ENST00000461576.1:n.235A>G
XM_024446813.1:c.2239+4976A>G	XP_024302581.1:n.2239+4976A>G
XM_024446814.1:c.1819A>G	XP_024302582.1:p.Ile607Val