Canonical Allele Identifier: CA8202980
Gene: DNAAF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 320777
dbSNP Id: rs145973397

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.84174688A>T , CM000678.2:g.84174688A>T GRCh38
NC_000016.9:g.84208294A>T , CM000678.1:g.84208294A>T GRCh37
NC_000016.8:g.82765795A>T NCBI36
NG_021174.1:g.34430A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378553.10:c.1664A>T MANE Select ENSP00000367815.5:p.Asp555Val
ENST00000378553.9:c.1664A>T ENSP00000367815.5:p.Asp555Val
ENST00000563093.5:c.*219A>T ENSP00000457373.1:n.*219A>T
ENST00000563818.5:n.1341A>T
ENST00000570298.5:n.4111A>T
NM_178452.4:c.1664A>T NP_848547.4:p.Asp555Val
XM_006721129.1:c.1664A>T XP_006721192.1:p.Asp555Val
XM_011522850.1:c.1712A>T XP_011521152.1:p.Asp571Val
XM_011522851.1:c.1712A>T XP_011521153.1:p.Asp571Val
XM_011522852.1:c.1664A>T XP_011521154.1:p.Asp555Val
XM_011522853.1:c.1712A>T XP_011521155.1:p.Asp571Val
XM_011522854.1:c.1712A>T XP_011521156.1:p.Asp571Val
XM_011522855.1:c.1712A>T XP_011521157.1:p.Asp571Val
XM_011522856.1:c.1451A>T XP_011521158.1:p.Asp484Val
XM_011522857.1:c.1712A>T XP_011521159.1:p.Asp571Val
XM_011522858.1:c.1712A>T XP_011521160.1:p.Asp571Val
XM_011522859.1:c.956A>T XP_011521161.1:p.Asp319Val
XM_011522860.1:c.956A>T XP_011521162.1:p.Asp319Val
NM_001318756.1:c.956A>T NP_001305685.1:p.Asp319Val
NM_178452.5:c.1664A>T NP_848547.4:p.Asp555Val
XM_006721129.3:c.1664A>T XP_006721192.1:p.Asp555Val
XM_011522853.3:c.1712A>T XP_011521155.1:p.Asp571Val
XM_011522854.3:c.1712A>T XP_011521156.1:p.Asp571Val
XM_011522855.3:c.1712A>T XP_011521157.1:p.Asp571Val
XM_011522857.3:c.1712A>T XP_011521159.1:p.Asp571Val
XM_011522858.3:c.1712A>T XP_011521160.1:p.Asp571Val
XM_017022918.2:c.1664A>T XP_016878407.1:p.Asp555Val
XM_017022919.1:c.1451A>T XP_016878408.1:p.Asp484Val
XM_017022920.2:c.956A>T XP_016878409.1:p.Asp319Val
XM_017022921.2:c.908A>T XP_016878410.1:p.Asp303Val
XM_017022922.2:c.908A>T XP_016878411.1:p.Asp303Val
XR_001751829.2:n.1886A>T
XR_001751830.2:n.1886A>T
XR_001751831.2:n.1838A>T
XR_001751832.1:n.4440A>T
NM_178452.6:c.1664A>T MANE Select NP_848547.4:p.Asp555Val