Canonical Allele Identifier: CA396948607
Community Standard Title: NM_178452.6(DNAAF1):c.1525G>T (p.Glu509Ter)
Gene: DNAAF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.84170353G>T , CM000678.2:g.84170353G>T GRCh38
NC_000016.9:g.84203959G>T , CM000678.1:g.84203959G>T GRCh37
NC_000016.8:g.82761460G>T NCBI36
NG_021174.1:g.30095G>T

Transcript Alleles

HGVS Amino-acid Change
NM_178452.6:c.1525G>T MANE Select NP_848547.4:p.Glu509Ter
ENST00000378553.10:c.1525G>T MANE Select ENSP00000367815.5:p.Glu509Ter
NM_001318756.1:c.817G>T NP_001305685.1:p.Glu273Ter
NM_178452.4:c.1525G>T NP_848547.4:p.Glu509Ter
NM_178452.5:c.1525G>T NP_848547.4:p.Glu509Ter
ENST00000378553.9:c.1525G>T ENSP00000367815.5:p.Glu509Ter
ENST00000563093.5:c.*80G>T ENSP00000457373.1:n.*80G>T
ENST00000563818.5:n.1202G>T
ENST00000570298.5:n.1679G>T
XM_006721129.1:c.1525G>T XP_006721192.1:p.Glu509Ter
XM_006721129.3:c.1525G>T XP_006721192.1:p.Glu509Ter
XM_011522850.1:c.1573G>T XP_011521152.1:p.Glu525Ter
XM_011522851.1:c.1573G>T XP_011521153.1:p.Glu525Ter
XM_011522852.1:c.1525G>T XP_011521154.1:p.Glu509Ter
XM_011522853.1:c.1573G>T XP_011521155.1:p.Glu525Ter
XM_011522853.3:c.1573G>T XP_011521155.1:p.Glu525Ter
XM_011522854.1:c.1573G>T XP_011521156.1:p.Glu525Ter
XM_011522854.3:c.1573G>T XP_011521156.1:p.Glu525Ter
XM_011522855.1:c.1573G>T XP_011521157.1:p.Glu525Ter
XM_011522855.3:c.1573G>T XP_011521157.1:p.Glu525Ter
XM_011522856.1:c.1312G>T XP_011521158.1:p.Glu438Ter
XM_011522857.1:c.1573G>T XP_011521159.1:p.Glu525Ter
XM_011522857.3:c.1573G>T XP_011521159.1:p.Glu525Ter
XM_011522858.1:c.1573G>T XP_011521160.1:p.Glu525Ter
XM_011522858.3:c.1573G>T XP_011521160.1:p.Glu525Ter
XM_011522859.1:c.817G>T XP_011521161.1:p.Glu273Ter
XM_011522860.1:c.817G>T XP_011521162.1:p.Glu273Ter
XM_017022918.2:c.1525G>T XP_016878407.1:p.Glu509Ter
XM_017022919.1:c.1312G>T XP_016878408.1:p.Glu438Ter
XM_017022920.2:c.817G>T XP_016878409.1:p.Glu273Ter
XM_017022921.2:c.769G>T XP_016878410.1:p.Glu257Ter
XM_017022922.2:c.769G>T XP_016878411.1:p.Glu257Ter
XR_001751829.2:n.1747G>T
XR_001751830.2:n.1747G>T
XR_001751831.2:n.1699G>T
XR_001751832.1:n.2008G>T