Canonical Allele Identifier: CA396951078

Gene: DNAAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84176164A>T , CM000678.2:g.84176164A>T	GRCh38
NC_000016.9:g.84209770A>T , CM000678.1:g.84209770A>T	GRCh37
NC_000016.8:g.82767271A>T	NCBI36
NG_021174.1:g.35906A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_178452.6:c.1930A>T MANE Select	NP_848547.4:p.Arg644Ter
ENST00000378553.10:c.1930A>T MANE Select	ENSP00000367815.5:p.Arg644Ter
NM_001318756.1:c.1222A>T	NP_001305685.1:p.Arg408Ter
NM_178452.4:c.1930A>T	NP_848547.4:p.Arg644Ter
NM_178452.5:c.1930A>T	NP_848547.4:p.Arg644Ter
ENST00000378553.9:c.1930A>T	ENSP00000367815.5:p.Arg644Ter
ENST00000562024.1:n.402A>T
ENST00000563818.5:n.1607A>T
ENST00000564928.1:c.24A>T
ENST00000569735.1:c.232A>T	ENSP00000454960.1:p.Arg78Ter
ENST00000570298.5:n.4383A>T
ENST00000623406.1:n.937A>T
XM_006721129.1:c.1936A>T	XP_006721192.1:p.Arg646Ter
XM_006721129.3:c.1936A>T	XP_006721192.1:p.Arg646Ter
XM_011522850.1:c.2212A>T	XP_011521152.1:p.Arg738Ter
XM_011522851.1:c.2206A>T	XP_011521153.1:p.Arg736Ter
XM_011522852.1:c.2164A>T	XP_011521154.1:p.Arg722Ter
XM_011522853.1:c.1978A>T	XP_011521155.1:p.Arg660Ter
XM_011522853.3:c.1978A>T	XP_011521155.1:p.Arg660Ter
XM_011522854.1:c.1984A>T	XP_011521156.1:p.Arg662Ter
XM_011522854.3:c.1984A>T	XP_011521156.1:p.Arg662Ter
XM_011522855.1:c.1978A>T	XP_011521157.1:p.Arg660Ter
XM_011522855.3:c.1978A>T	XP_011521157.1:p.Arg660Ter
XM_011522856.1:c.1951A>T	XP_011521158.1:p.Arg651Ter
XM_011522859.1:c.1456A>T	XP_011521161.1:p.Arg486Ter
XM_011522860.1:c.1222A>T	XP_011521162.1:p.Arg408Ter
XM_017022918.2:c.1930A>T	XP_016878407.1:p.Arg644Ter
XM_017022919.1:c.1717A>T	XP_016878408.1:p.Arg573Ter
XM_017022920.2:c.1222A>T	XP_016878409.1:p.Arg408Ter
XM_017022921.2:c.1174A>T	XP_016878410.1:p.Arg392Ter
XM_017022922.2:c.1174A>T	XP_016878411.1:p.Arg392Ter
XR_001751829.2:n.2641A>T
XR_001751830.2:n.2635A>T
XR_001751831.2:n.2587A>T
XR_001751832.1:n.5189A>T