Canonical Allele Identifier: CA4111031

Gene: DNAAF5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.774092C>T , CM000669.2:g.774092C>T	GRCh38
NC_000007.13:g.813729C>T , CM000669.1:g.813729C>T	GRCh37
NC_000007.12:g.780255C>T	NCBI36
NG_033137.1:g.52392C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017802.4:c.1976C>T MANE Select	NP_060272.3:p.Ala659Val
ENST00000297440.11:c.1976C>T MANE Select	ENSP00000297440.6:p.Ala659Val
NM_017802.3:c.1976C>T	NP_060272.3:p.Ala659Val
NR_075098.1:n.1934C>T
NR_075098.2:n.1936C>T
ENST00000297440.10:c.1976C>T	ENSP00000297440.6:p.Ala659Val
ENST00000403952.3:c.251C>T	ENSP00000384884.3:p.Ala84Val
ENST00000440747.5:c.1380C>T
XM_024446813.1:c.1976C>T	XP_024302581.1:p.Ala659Val
XM_024446814.1:c.1370C>T	XP_024302582.1:p.Ala457Val