Canonical Allele Identifier: CA8203158

Gene: DNAAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84177743G>A , CM000678.2:g.84177743G>A	GRCh38
NC_000016.9:g.84211349G>A , CM000678.1:g.84211349G>A	GRCh37
NC_000016.8:g.82768850G>A	NCBI36
NG_021174.1:g.37485G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_178452.6:c.2080G>A MANE Select	NP_848547.4:p.Ala694Thr
ENST00000378553.10:c.2080G>A MANE Select	ENSP00000367815.5:p.Ala694Thr
NM_001318756.1:c.1372G>A	NP_001305685.1:p.Ala458Thr
NM_178452.4:c.2080G>A	NP_848547.4:p.Ala694Thr
NM_178452.5:c.2080G>A	NP_848547.4:p.Ala694Thr
ENST00000378553.9:c.2080G>A	ENSP00000367815.5:p.Ala694Thr
ENST00000562024.1:n.552G>A
ENST00000563818.5:n.1757G>A
ENST00000564928.1:c.160-647G>A
ENST00000569735.1:c.475G>A	ENSP00000454960.1:p.Ala159Thr
ENST00000570298.5:n.4533G>A
ENST00000623406.1:n.2516G>A
XM_006721129.1:c.2086G>A	XP_006721192.1:p.Ala696Thr
XM_006721129.3:c.2086G>A	XP_006721192.1:p.Ala696Thr
XM_011522850.1:c.2362G>A	XP_011521152.1:p.Ala788Thr
XM_011522851.1:c.2356G>A	XP_011521153.1:p.Ala786Thr
XM_011522852.1:c.2314G>A	XP_011521154.1:p.Ala772Thr
XM_011522853.1:c.2221G>A	XP_011521155.1:p.Ala741Thr
XM_011522853.3:c.2221G>A	XP_011521155.1:p.Ala741Thr
XM_011522854.1:c.2134G>A	XP_011521156.1:p.Ala712Thr
XM_011522854.3:c.2134G>A	XP_011521156.1:p.Ala712Thr
XM_011522855.1:c.2128G>A	XP_011521157.1:p.Ala710Thr
XM_011522855.3:c.2128G>A	XP_011521157.1:p.Ala710Thr
XM_011522856.1:c.2101G>A	XP_011521158.1:p.Ala701Thr
XM_011522859.1:c.1606G>A	XP_011521161.1:p.Ala536Thr
XM_011522860.1:c.1372G>A	XP_011521162.1:p.Ala458Thr
XM_017022918.2:c.2173G>A	XP_016878407.1:p.Ala725Thr
XM_017022919.1:c.1960G>A	XP_016878408.1:p.Ala654Thr
XM_017022920.2:c.1465G>A	XP_016878409.1:p.Ala489Thr
XM_017022921.2:c.1417G>A	XP_016878410.1:p.Ala473Thr
XM_017022922.2:c.1324G>A	XP_016878411.1:p.Ala442Thr
XR_001751829.2:n.2791G>A
XR_001751830.2:n.2785G>A
XR_001751831.2:n.2737G>A
XR_001751832.1:n.5339G>A