Canonical Allele Identifier: CA8203014

Gene: DNAAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84175946C>T , CM000678.2:g.84175946C>T	GRCh38
NC_000016.9:g.84209552C>T , CM000678.1:g.84209552C>T	GRCh37
NC_000016.8:g.82767053C>T	NCBI36
NG_021174.1:g.35688C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_178452.6:c.1712C>T MANE Select	NP_848547.4:p.Pro571Leu
ENST00000378553.10:c.1712C>T MANE Select	ENSP00000367815.5:p.Pro571Leu
NM_001318756.1:c.1004C>T	NP_001305685.1:p.Pro335Leu
NM_178452.4:c.1712C>T	NP_848547.4:p.Pro571Leu
NM_178452.5:c.1712C>T	NP_848547.4:p.Pro571Leu
ENST00000378553.9:c.1712C>T	ENSP00000367815.5:p.Pro571Leu
ENST00000562024.1:n.184C>T
ENST00000563818.5:n.1389C>T
ENST00000569735.1:c.14C>T	ENSP00000454960.1:p.Pro5Leu
ENST00000570298.5:n.4165C>T
ENST00000623406.1:n.719C>T
XM_006721129.1:c.1718C>T	XP_006721192.1:p.Pro573Leu
XM_006721129.3:c.1718C>T	XP_006721192.1:p.Pro573Leu
XM_011522850.1:c.1994C>T	XP_011521152.1:p.Pro665Leu
XM_011522851.1:c.1988C>T	XP_011521153.1:p.Pro663Leu
XM_011522852.1:c.1946C>T	XP_011521154.1:p.Pro649Leu
XM_011522853.1:c.1760C>T	XP_011521155.1:p.Pro587Leu
XM_011522853.3:c.1760C>T	XP_011521155.1:p.Pro587Leu
XM_011522854.1:c.1766C>T	XP_011521156.1:p.Pro589Leu
XM_011522854.3:c.1766C>T	XP_011521156.1:p.Pro589Leu
XM_011522855.1:c.1760C>T	XP_011521157.1:p.Pro587Leu
XM_011522855.3:c.1760C>T	XP_011521157.1:p.Pro587Leu
XM_011522856.1:c.1733C>T	XP_011521158.1:p.Pro578Leu
XM_011522859.1:c.1238C>T	XP_011521161.1:p.Pro413Leu
XM_011522860.1:c.1004C>T	XP_011521162.1:p.Pro335Leu
XM_017022918.2:c.1712C>T	XP_016878407.1:p.Pro571Leu
XM_017022919.1:c.1499C>T	XP_016878408.1:p.Pro500Leu
XM_017022920.2:c.1004C>T	XP_016878409.1:p.Pro335Leu
XM_017022921.2:c.956C>T	XP_016878410.1:p.Pro319Leu
XM_017022922.2:c.956C>T	XP_016878411.1:p.Pro319Leu
XR_001751829.2:n.2423C>T
XR_001751830.2:n.2417C>T
XR_001751831.2:n.2369C>T
XR_001751832.1:n.4971C>T