Canonical Allele Identifier: CA8203098

Gene: DNAAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84176304G>A , CM000678.2:g.84176304G>A	GRCh38
NC_000016.9:g.84209910G>A , CM000678.1:g.84209910G>A	GRCh37
NC_000016.8:g.82767411G>A	NCBI36
NG_021174.1:g.36046G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_178452.6:c.2065+5G>A MANE Select	NP_848547.4:n.2065+5G>A
ENST00000378553.10:c.2065+5G>A MANE Select	ENSP00000367815.5:n.2065+5G>A
NM_001318756.1:c.1357+5G>A	NP_001305685.1:n.1357+5G>A
NM_178452.4:c.2065+5G>A	NP_848547.4:n.2065+5G>A
NM_178452.5:c.2065+5G>A	NP_848547.4:n.2065+5G>A
ENST00000378553.9:c.2065+5G>A	ENSP00000367815.5:n.2065+5G>A
ENST00000562024.1:n.537+5G>A
ENST00000563818.5:n.1742+5G>A
ENST00000564928.1:c.159+5G>A
ENST00000569735.1:c.367+5G>A	ENSP00000454960.1:n.367+5G>A
ENST00000570298.5:n.4518+5G>A
ENST00000623406.1:n.1077G>A
XM_006721129.1:c.2071+5G>A	XP_006721192.1:n.2071+5G>A
XM_006721129.3:c.2071+5G>A	XP_006721192.1:n.2071+5G>A
XM_011522850.1:c.2347+5G>A	XP_011521152.1:n.2347+5G>A
XM_011522851.1:c.2341+5G>A	XP_011521153.1:n.2341+5G>A
XM_011522852.1:c.2299+5G>A	XP_011521154.1:n.2299+5G>A
XM_011522853.1:c.2113+5G>A	XP_011521155.1:n.2113+5G>A
XM_011522853.3:c.2113+5G>A	XP_011521155.1:n.2113+5G>A
XM_011522854.1:c.2119+5G>A	XP_011521156.1:n.2119+5G>A
XM_011522854.3:c.2119+5G>A	XP_011521156.1:n.2119+5G>A
XM_011522855.1:c.2113+5G>A	XP_011521157.1:n.2113+5G>A
XM_011522855.3:c.2113+5G>A	XP_011521157.1:n.2113+5G>A
XM_011522856.1:c.2086+5G>A	XP_011521158.1:n.2086+5G>A
XM_011522859.1:c.1591+5G>A	XP_011521161.1:n.1591+5G>A
XM_011522860.1:c.1357+5G>A	XP_011521162.1:n.1357+5G>A
XM_017022918.2:c.2065+5G>A	XP_016878407.1:n.2065+5G>A
XM_017022919.1:c.1852+5G>A	XP_016878408.1:n.1852+5G>A
XM_017022920.2:c.1357+5G>A	XP_016878409.1:n.1357+5G>A
XM_017022921.2:c.1309+5G>A	XP_016878410.1:n.1309+5G>A
XM_017022922.2:c.1309+5G>A	XP_016878411.1:n.1309+5G>A
XR_001751829.2:n.2776+5G>A
XR_001751830.2:n.2770+5G>A
XR_001751831.2:n.2722+5G>A
XR_001751832.1:n.5324+5G>A