Canonical Allele Identifier: CA396950526

Gene: DNAAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84176014G>A , CM000678.2:g.84176014G>A	GRCh38
NC_000016.9:g.84209620G>A , CM000678.1:g.84209620G>A	GRCh37
NC_000016.8:g.82767121G>A	NCBI36
NG_021174.1:g.35756G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_178452.6:c.1780G>A MANE Select	NP_848547.4:p.Val594Met
ENST00000378553.10:c.1780G>A MANE Select	ENSP00000367815.5:p.Val594Met
NM_001318756.1:c.1072G>A	NP_001305685.1:p.Val358Met
NM_178452.4:c.1780G>A	NP_848547.4:p.Val594Met
NM_178452.5:c.1780G>A	NP_848547.4:p.Val594Met
ENST00000378553.9:c.1780G>A	ENSP00000367815.5:p.Val594Met
ENST00000562024.1:n.252G>A
ENST00000563818.5:n.1457G>A
ENST00000569735.1:c.82G>A	ENSP00000454960.1:p.Val28Met
ENST00000570298.5:n.4233G>A
ENST00000623406.1:n.787G>A
XM_006721129.1:c.1786G>A	XP_006721192.1:p.Val596Met
XM_006721129.3:c.1786G>A	XP_006721192.1:p.Val596Met
XM_011522850.1:c.2062G>A	XP_011521152.1:p.Val688Met
XM_011522851.1:c.2056G>A	XP_011521153.1:p.Val686Met
XM_011522852.1:c.2014G>A	XP_011521154.1:p.Val672Met
XM_011522853.1:c.1828G>A	XP_011521155.1:p.Val610Met
XM_011522853.3:c.1828G>A	XP_011521155.1:p.Val610Met
XM_011522854.1:c.1834G>A	XP_011521156.1:p.Val612Met
XM_011522854.3:c.1834G>A	XP_011521156.1:p.Val612Met
XM_011522855.1:c.1828G>A	XP_011521157.1:p.Val610Met
XM_011522855.3:c.1828G>A	XP_011521157.1:p.Val610Met
XM_011522856.1:c.1801G>A	XP_011521158.1:p.Val601Met
XM_011522859.1:c.1306G>A	XP_011521161.1:p.Val436Met
XM_011522860.1:c.1072G>A	XP_011521162.1:p.Val358Met
XM_017022918.2:c.1780G>A	XP_016878407.1:p.Val594Met
XM_017022919.1:c.1567G>A	XP_016878408.1:p.Val523Met
XM_017022920.2:c.1072G>A	XP_016878409.1:p.Val358Met
XM_017022921.2:c.1024G>A	XP_016878410.1:p.Val342Met
XM_017022922.2:c.1024G>A	XP_016878411.1:p.Val342Met
XR_001751829.2:n.2491G>A
XR_001751830.2:n.2485G>A
XR_001751831.2:n.2437G>A
XR_001751832.1:n.5039G>A