Canonical Allele Identifier: CA8203066

Gene: DNAAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84176191G>T , CM000678.2:g.84176191G>T	GRCh38
NC_000016.9:g.84209797G>T , CM000678.1:g.84209797G>T	GRCh37
NC_000016.8:g.82767298G>T	NCBI36
NG_021174.1:g.35933G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_178452.6:c.1957G>T MANE Select	NP_848547.4:p.Glu653Ter
ENST00000378553.10:c.1957G>T MANE Select	ENSP00000367815.5:p.Glu653Ter
NM_001318756.1:c.1249G>T	NP_001305685.1:p.Glu417Ter
NM_178452.4:c.1957G>T	NP_848547.4:p.Glu653Ter
NM_178452.5:c.1957G>T	NP_848547.4:p.Glu653Ter
ENST00000378553.9:c.1957G>T	ENSP00000367815.5:p.Glu653Ter
ENST00000562024.1:n.429G>T
ENST00000563818.5:n.1634G>T
ENST00000564928.1:c.51G>T
ENST00000569735.1:c.259G>T	ENSP00000454960.1:p.Glu87Ter
ENST00000570298.5:n.4410G>T
ENST00000623406.1:n.964G>T
XM_006721129.1:c.1963G>T	XP_006721192.1:p.Glu655Ter
XM_006721129.3:c.1963G>T	XP_006721192.1:p.Glu655Ter
XM_011522850.1:c.2239G>T	XP_011521152.1:p.Glu747Ter
XM_011522851.1:c.2233G>T	XP_011521153.1:p.Glu745Ter
XM_011522852.1:c.2191G>T	XP_011521154.1:p.Glu731Ter
XM_011522853.1:c.2005G>T	XP_011521155.1:p.Glu669Ter
XM_011522853.3:c.2005G>T	XP_011521155.1:p.Glu669Ter
XM_011522854.1:c.2011G>T	XP_011521156.1:p.Glu671Ter
XM_011522854.3:c.2011G>T	XP_011521156.1:p.Glu671Ter
XM_011522855.1:c.2005G>T	XP_011521157.1:p.Glu669Ter
XM_011522855.3:c.2005G>T	XP_011521157.1:p.Glu669Ter
XM_011522856.1:c.1978G>T	XP_011521158.1:p.Glu660Ter
XM_011522859.1:c.1483G>T	XP_011521161.1:p.Glu495Ter
XM_011522860.1:c.1249G>T	XP_011521162.1:p.Glu417Ter
XM_017022918.2:c.1957G>T	XP_016878407.1:p.Glu653Ter
XM_017022919.1:c.1744G>T	XP_016878408.1:p.Glu582Ter
XM_017022920.2:c.1249G>T	XP_016878409.1:p.Glu417Ter
XM_017022921.2:c.1201G>T	XP_016878410.1:p.Glu401Ter
XM_017022922.2:c.1201G>T	XP_016878411.1:p.Glu401Ter
XR_001751829.2:n.2668G>T
XR_001751830.2:n.2662G>T
XR_001751831.2:n.2614G>T
XR_001751832.1:n.5216G>T