Canonical Allele Identifier: CA4110676

Gene: DNAAF5

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.756782T>C , CM000669.2:g.756782T>C	GRCh38
NC_000007.13:g.796419T>C , CM000669.1:g.796419T>C	GRCh37
NC_000007.12:g.762945T>C	NCBI36
NG_033137.1:g.35082T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_017802.4:c.1258T>C MANE Select	NP_060272.3:p.Cys420Arg
ENST00000297440.11:c.1258T>C MANE Select	ENSP00000297440.6:p.Cys420Arg
NM_017802.3:c.1258T>C	NP_060272.3:p.Cys420Arg
NR_075098.1:n.1216T>C
NR_075098.2:n.1218T>C
ENST00000297440.10:c.1258T>C	ENSP00000297440.6:p.Cys420Arg
ENST00000437419.5:c.575T>C
ENST00000440747.5:c.662T>C
XM_024446813.1:c.1258T>C	XP_024302581.1:p.Cys420Arg
XM_024446814.1:c.652T>C	XP_024302582.1:p.Cys218Arg