Canonical Allele Identifier: CA396945144
Gene: DNAAF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.84159750A>G , CM000678.2:g.84159750A>G GRCh38
NC_000016.9:g.84193355A>G , CM000678.1:g.84193355A>G GRCh37
NC_000016.8:g.82750856A>G NCBI36
NG_021174.1:g.19491A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378553.10:c.817A>G MANE Select ENSP00000367815.5:p.Lys273Glu
ENST00000378553.9:c.817A>G ENSP00000367815.5:p.Lys273Glu
ENST00000563093.5:c.817A>G ENSP00000457373.1:p.Lys273Glu
ENST00000563818.5:n.446A>G
ENST00000567666.1:n.206A>G
ENST00000570298.5:n.971A>G
NM_178452.4:c.817A>G NP_848547.4:p.Lys273Glu
XM_006721129.1:c.817A>G XP_006721192.1:p.Lys273Glu
XM_011522850.1:c.817A>G XP_011521152.1:p.Lys273Glu
XM_011522851.1:c.817A>G XP_011521153.1:p.Lys273Glu
XM_011522852.1:c.817A>G XP_011521154.1:p.Lys273Glu
XM_011522853.1:c.817A>G XP_011521155.1:p.Lys273Glu
XM_011522854.1:c.817A>G XP_011521156.1:p.Lys273Glu
XM_011522855.1:c.817A>G XP_011521157.1:p.Lys273Glu
XM_011522856.1:c.556A>G XP_011521158.1:p.Lys186Glu
XM_011522857.1:c.817A>G XP_011521159.1:p.Lys273Glu
XM_011522858.1:c.817A>G XP_011521160.1:p.Lys273Glu
XM_011522859.1:c.61A>G XP_011521161.1:p.Lys21Glu
XM_011522860.1:c.61A>G XP_011521162.1:p.Lys21Glu
NM_001318756.1:c.61A>G NP_001305685.1:p.Lys21Glu
NM_178452.5:c.817A>G NP_848547.4:p.Lys273Glu
XM_006721129.3:c.817A>G XP_006721192.1:p.Lys273Glu
XM_011522853.3:c.817A>G XP_011521155.1:p.Lys273Glu
XM_011522854.3:c.817A>G XP_011521156.1:p.Lys273Glu
XM_011522855.3:c.817A>G XP_011521157.1:p.Lys273Glu
XM_011522857.3:c.817A>G XP_011521159.1:p.Lys273Glu
XM_011522858.3:c.817A>G XP_011521160.1:p.Lys273Glu
XM_017022918.2:c.817A>G XP_016878407.1:p.Lys273Glu
XM_017022919.1:c.556A>G XP_016878408.1:p.Lys186Glu
XM_017022920.2:c.61A>G XP_016878409.1:p.Lys21Glu
XM_017022921.2:c.61A>G XP_016878410.1:p.Lys21Glu
XM_017022922.2:c.61A>G XP_016878411.1:p.Lys21Glu
XR_001751829.2:n.991A>G
XR_001751830.2:n.991A>G
XR_001751831.2:n.991A>G
XR_001751832.1:n.1300A>G
NM_178452.6:c.817A>G MANE Select NP_848547.4:p.Lys273Glu