Canonical Allele Identifier: CA396950857

Gene: DNAAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84176110A>T , CM000678.2:g.84176110A>T	GRCh38
NC_000016.9:g.84209716A>T , CM000678.1:g.84209716A>T	GRCh37
NC_000016.8:g.82767217A>T	NCBI36
NG_021174.1:g.35852A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_178452.6:c.1876A>T MANE Select	NP_848547.4:p.Lys626Ter
ENST00000378553.10:c.1876A>T MANE Select	ENSP00000367815.5:p.Lys626Ter
NM_001318756.1:c.1168A>T	NP_001305685.1:p.Lys390Ter
NM_178452.4:c.1876A>T	NP_848547.4:p.Lys626Ter
NM_178452.5:c.1876A>T	NP_848547.4:p.Lys626Ter
ENST00000378553.9:c.1876A>T	ENSP00000367815.5:p.Lys626Ter
ENST00000562024.1:n.348A>T
ENST00000563818.5:n.1553A>T
ENST00000569735.1:c.178A>T	ENSP00000454960.1:p.Lys60Ter
ENST00000570298.5:n.4329A>T
ENST00000623406.1:n.883A>T
XM_006721129.1:c.1882A>T	XP_006721192.1:p.Lys628Ter
XM_006721129.3:c.1882A>T	XP_006721192.1:p.Lys628Ter
XM_011522850.1:c.2158A>T	XP_011521152.1:p.Lys720Ter
XM_011522851.1:c.2152A>T	XP_011521153.1:p.Lys718Ter
XM_011522852.1:c.2110A>T	XP_011521154.1:p.Lys704Ter
XM_011522853.1:c.1924A>T	XP_011521155.1:p.Lys642Ter
XM_011522853.3:c.1924A>T	XP_011521155.1:p.Lys642Ter
XM_011522854.1:c.1930A>T	XP_011521156.1:p.Lys644Ter
XM_011522854.3:c.1930A>T	XP_011521156.1:p.Lys644Ter
XM_011522855.1:c.1924A>T	XP_011521157.1:p.Lys642Ter
XM_011522855.3:c.1924A>T	XP_011521157.1:p.Lys642Ter
XM_011522856.1:c.1897A>T	XP_011521158.1:p.Lys633Ter
XM_011522859.1:c.1402A>T	XP_011521161.1:p.Lys468Ter
XM_011522860.1:c.1168A>T	XP_011521162.1:p.Lys390Ter
XM_017022918.2:c.1876A>T	XP_016878407.1:p.Lys626Ter
XM_017022919.1:c.1663A>T	XP_016878408.1:p.Lys555Ter
XM_017022920.2:c.1168A>T	XP_016878409.1:p.Lys390Ter
XM_017022921.2:c.1120A>T	XP_016878410.1:p.Lys374Ter
XM_017022922.2:c.1120A>T	XP_016878411.1:p.Lys374Ter
XR_001751829.2:n.2587A>T
XR_001751830.2:n.2581A>T
XR_001751831.2:n.2533A>T
XR_001751832.1:n.5135A>T