Canonical Allele Identifier: CA8203047

Gene: DNAAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84176082G>A , CM000678.2:g.84176082G>A	GRCh38
NC_000016.9:g.84209688G>A , CM000678.1:g.84209688G>A	GRCh37
NC_000016.8:g.82767189G>A	NCBI36
NG_021174.1:g.35824G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378553.10:c.1848G>A MANE Select	ENSP00000367815.5:p.Ala616=
ENST00000378553.9:c.1848G>A	ENSP00000367815.5:p.Ala616=
ENST00000562024.1:n.320G>A
ENST00000563818.5:n.1525G>A
ENST00000569735.1:c.150G>A	ENSP00000454960.1:p.Ala50=
ENST00000570298.5:n.4301G>A
ENST00000623406.1:n.855G>A
NM_178452.4:c.1848G>A	NP_848547.4:p.Ala616=
XM_006721129.1:c.1854G>A	XP_006721192.1:p.Ala618=
XM_011522850.1:c.2130G>A	XP_011521152.1:p.Ala710=
XM_011522851.1:c.2124G>A	XP_011521153.1:p.Ala708=
XM_011522852.1:c.2082G>A	XP_011521154.1:p.Ala694=
XM_011522853.1:c.1896G>A	XP_011521155.1:p.Ala632=
XM_011522854.1:c.1902G>A	XP_011521156.1:p.Ala634=
XM_011522855.1:c.1896G>A	XP_011521157.1:p.Ala632=
XM_011522856.1:c.1869G>A	XP_011521158.1:p.Ala623=
XM_011522859.1:c.1374G>A	XP_011521161.1:p.Ala458=
XM_011522860.1:c.1140G>A	XP_011521162.1:p.Ala380=
NM_001318756.1:c.1140G>A	NP_001305685.1:p.Ala380=
NM_178452.5:c.1848G>A	NP_848547.4:p.Ala616=
XM_006721129.3:c.1854G>A	XP_006721192.1:p.Ala618=
XM_011522853.3:c.1896G>A	XP_011521155.1:p.Ala632=
XM_011522854.3:c.1902G>A	XP_011521156.1:p.Ala634=
XM_011522855.3:c.1896G>A	XP_011521157.1:p.Ala632=
XM_017022918.2:c.1848G>A	XP_016878407.1:p.Ala616=
XM_017022919.1:c.1635G>A	XP_016878408.1:p.Ala545=
XM_017022920.2:c.1140G>A	XP_016878409.1:p.Ala380=
XM_017022921.2:c.1092G>A	XP_016878410.1:p.Ala364=
XM_017022922.2:c.1092G>A	XP_016878411.1:p.Ala364=
XR_001751829.2:n.2559G>A
XR_001751830.2:n.2553G>A
XR_001751831.2:n.2505G>A
XR_001751832.1:n.5107G>A
NM_178452.6:c.1848G>A MANE Select	NP_848547.4:p.Ala616=