Canonical Allele Identifier: CA8203055

Gene: DNAAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84176140C>T , CM000678.2:g.84176140C>T	GRCh38
NC_000016.9:g.84209746C>T , CM000678.1:g.84209746C>T	GRCh37
NC_000016.8:g.82767247C>T	NCBI36
NG_021174.1:g.35882C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_178452.6:c.1906C>T MANE Select	NP_848547.4:p.Arg636Ter
ENST00000378553.10:c.1906C>T MANE Select	ENSP00000367815.5:p.Arg636Ter
NM_001318756.1:c.1198C>T	NP_001305685.1:p.Arg400Ter
NM_178452.4:c.1906C>T	NP_848547.4:p.Arg636Ter
NM_178452.5:c.1906C>T	NP_848547.4:p.Arg636Ter
ENST00000378553.9:c.1906C>T	ENSP00000367815.5:p.Arg636Ter
ENST00000562024.1:n.378C>T
ENST00000563818.5:n.1583C>T
ENST00000569735.1:c.208C>T	ENSP00000454960.1:p.Arg70Ter
ENST00000570298.5:n.4359C>T
ENST00000623406.1:n.913C>T
XM_006721129.1:c.1912C>T	XP_006721192.1:p.Arg638Ter
XM_006721129.3:c.1912C>T	XP_006721192.1:p.Arg638Ter
XM_011522850.1:c.2188C>T	XP_011521152.1:p.Arg730Ter
XM_011522851.1:c.2182C>T	XP_011521153.1:p.Arg728Ter
XM_011522852.1:c.2140C>T	XP_011521154.1:p.Arg714Ter
XM_011522853.1:c.1954C>T	XP_011521155.1:p.Arg652Ter
XM_011522853.3:c.1954C>T	XP_011521155.1:p.Arg652Ter
XM_011522854.1:c.1960C>T	XP_011521156.1:p.Arg654Ter
XM_011522854.3:c.1960C>T	XP_011521156.1:p.Arg654Ter
XM_011522855.1:c.1954C>T	XP_011521157.1:p.Arg652Ter
XM_011522855.3:c.1954C>T	XP_011521157.1:p.Arg652Ter
XM_011522856.1:c.1927C>T	XP_011521158.1:p.Arg643Ter
XM_011522859.1:c.1432C>T	XP_011521161.1:p.Arg478Ter
XM_011522860.1:c.1198C>T	XP_011521162.1:p.Arg400Ter
XM_017022918.2:c.1906C>T	XP_016878407.1:p.Arg636Ter
XM_017022919.1:c.1693C>T	XP_016878408.1:p.Arg565Ter
XM_017022920.2:c.1198C>T	XP_016878409.1:p.Arg400Ter
XM_017022921.2:c.1150C>T	XP_016878410.1:p.Arg384Ter
XM_017022922.2:c.1150C>T	XP_016878411.1:p.Arg384Ter
XR_001751829.2:n.2617C>T
XR_001751830.2:n.2611C>T
XR_001751831.2:n.2563C>T
XR_001751832.1:n.5165C>T