Canonical Allele Identifier: CA8203161

Gene: DNAAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84177746G>A , CM000678.2:g.84177746G>A	GRCh38
NC_000016.9:g.84211352G>A , CM000678.1:g.84211352G>A	GRCh37
NC_000016.8:g.82768853G>A	NCBI36
NG_021174.1:g.37488G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_178452.6:c.2083G>A MANE Select	NP_848547.4:p.Ala695Thr
ENST00000378553.10:c.2083G>A MANE Select	ENSP00000367815.5:p.Ala695Thr
NM_001318756.1:c.1375G>A	NP_001305685.1:p.Ala459Thr
NM_178452.4:c.2083G>A	NP_848547.4:p.Ala695Thr
NM_178452.5:c.2083G>A	NP_848547.4:p.Ala695Thr
ENST00000378553.9:c.2083G>A	ENSP00000367815.5:p.Ala695Thr
ENST00000562024.1:n.555G>A
ENST00000563818.5:n.1760G>A
ENST00000564928.1:c.160-644G>A
ENST00000569735.1:c.478G>A	ENSP00000454960.1:p.Ala160Thr
ENST00000570298.5:n.4536G>A
ENST00000623406.1:n.2519G>A
XM_006721129.1:c.2089G>A	XP_006721192.1:p.Ala697Thr
XM_006721129.3:c.2089G>A	XP_006721192.1:p.Ala697Thr
XM_011522850.1:c.2365G>A	XP_011521152.1:p.Ala789Thr
XM_011522851.1:c.2359G>A	XP_011521153.1:p.Ala787Thr
XM_011522852.1:c.2317G>A	XP_011521154.1:p.Ala773Thr
XM_011522853.1:c.2224G>A	XP_011521155.1:p.Ala742Thr
XM_011522853.3:c.2224G>A	XP_011521155.1:p.Ala742Thr
XM_011522854.1:c.2137G>A	XP_011521156.1:p.Ala713Thr
XM_011522854.3:c.2137G>A	XP_011521156.1:p.Ala713Thr
XM_011522855.1:c.2131G>A	XP_011521157.1:p.Ala711Thr
XM_011522855.3:c.2131G>A	XP_011521157.1:p.Ala711Thr
XM_011522856.1:c.2104G>A	XP_011521158.1:p.Ala702Thr
XM_011522859.1:c.1609G>A	XP_011521161.1:p.Ala537Thr
XM_011522860.1:c.1375G>A	XP_011521162.1:p.Ala459Thr
XM_017022918.2:c.2176G>A	XP_016878407.1:p.Ala726Thr
XM_017022919.1:c.1963G>A	XP_016878408.1:p.Ala655Thr
XM_017022920.2:c.1468G>A	XP_016878409.1:p.Ala490Thr
XM_017022921.2:c.1420G>A	XP_016878410.1:p.Ala474Thr
XM_017022922.2:c.1327G>A	XP_016878411.1:p.Ala443Thr
XR_001751829.2:n.2794G>A
XR_001751830.2:n.2788G>A
XR_001751831.2:n.2740G>A
XR_001751832.1:n.5342G>A