Canonical Allele Identifier: CA2807917675
Gene: DNAAF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.84155758C>A , CM000678.2:g.84155758C>A GRCh38
NC_000016.9:g.84189363C>A , CM000678.1:g.84189363C>A GRCh37
NC_000016.8:g.82746864C>A NCBI36
NG_021174.1:g.15499C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378553.10:c.741+9C>A MANE Select ENSP00000367815.5:n.741+9C>A
ENST00000378553.9:c.741+9C>A ENSP00000367815.5:n.741+9C>A
ENST00000563093.5:c.741+9C>A ENSP00000457373.1:n.741+9C>A
ENST00000567918.5:c.741+9C>A ENSP00000455154.1:n.741+9C>A
ENST00000570298.5:n.895+9C>A
NM_178452.4:c.741+9C>A NP_848547.4:n.741+9C>A
XM_006721129.1:c.741+9C>A XP_006721192.1:n.741+9C>A
XM_011522850.1:c.741+9C>A XP_011521152.1:n.741+9C>A
XM_011522851.1:c.741+9C>A XP_011521153.1:n.741+9C>A
XM_011522852.1:c.741+9C>A XP_011521154.1:n.741+9C>A
XM_011522853.1:c.741+9C>A XP_011521155.1:n.741+9C>A
XM_011522854.1:c.741+9C>A XP_011521156.1:n.741+9C>A
XM_011522855.1:c.741+9C>A XP_011521157.1:n.741+9C>A
XM_011522856.1:c.480+9C>A XP_011521158.1:n.480+9C>A
XM_011522857.1:c.741+9C>A XP_011521159.1:n.741+9C>A
XM_011522858.1:c.741+9C>A XP_011521160.1:n.741+9C>A
NM_178452.5:c.741+9C>A NP_848547.4:n.741+9C>A
XM_006721129.3:c.741+9C>A XP_006721192.1:n.741+9C>A
XM_011522853.3:c.741+9C>A XP_011521155.1:n.741+9C>A
XM_011522854.3:c.741+9C>A XP_011521156.1:n.741+9C>A
XM_011522855.3:c.741+9C>A XP_011521157.1:n.741+9C>A
XM_011522857.3:c.741+9C>A XP_011521159.1:n.741+9C>A
XM_011522858.3:c.741+9C>A XP_011521160.1:n.741+9C>A
XM_017022918.2:c.741+9C>A XP_016878407.1:n.741+9C>A
XM_017022919.1:c.480+9C>A XP_016878408.1:n.480+9C>A
XR_001751829.2:n.915+9C>A
XR_001751830.2:n.915+9C>A
XR_001751831.2:n.915+9C>A
XR_001751832.1:n.1224+9C>A
NM_178452.6:c.741+9C>A MANE Select NP_848547.4:n.741+9C>A