Canonical Allele Identifier: CA285510403

Gene: DNAAF1

Linked Data

• ClinVar Variation Id: 665694
• ClinVar RCV Id: RCV000824029 ; RCV003424367
• dbSNP Id: rs867096947
• gnomAD v4: 16-84159727-G-A
• MyVariant Identifiers: chr16:g.84193332G>A (hg19) ; chr16:g.84159727G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84159727G>A , CM000678.2:g.84159727G>A	GRCh38
NC_000016.9:g.84193332G>A , CM000678.1:g.84193332G>A	GRCh37
NC_000016.8:g.82750833G>A	NCBI36
NG_021174.1:g.19468G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378553.10:c.794G>A MANE Select	ENSP00000367815.5:p.Arg265Lys
ENST00000378553.9:c.794G>A	ENSP00000367815.5:p.Arg265Lys
ENST00000563093.5:c.794G>A	ENSP00000457373.1:p.Arg265Lys
ENST00000563818.5:n.423G>A
ENST00000567666.1:n.183G>A
ENST00000567918.5:c.*113G>A	ENSP00000455154.1:n.*113G>A
ENST00000570298.5:n.948G>A
NM_178452.4:c.794G>A	NP_848547.4:p.Arg265Lys
XM_006721129.1:c.794G>A	XP_006721192.1:p.Arg265Lys
XM_011522850.1:c.794G>A	XP_011521152.1:p.Arg265Lys
XM_011522851.1:c.794G>A	XP_011521153.1:p.Arg265Lys
XM_011522852.1:c.794G>A	XP_011521154.1:p.Arg265Lys
XM_011522853.1:c.794G>A	XP_011521155.1:p.Arg265Lys
XM_011522854.1:c.794G>A	XP_011521156.1:p.Arg265Lys
XM_011522855.1:c.794G>A	XP_011521157.1:p.Arg265Lys
XM_011522856.1:c.533G>A	XP_011521158.1:p.Arg178Lys
XM_011522857.1:c.794G>A	XP_011521159.1:p.Arg265Lys
XM_011522858.1:c.794G>A	XP_011521160.1:p.Arg265Lys
XM_011522859.1:c.38G>A	XP_011521161.1:p.Arg13Lys
XM_011522860.1:c.38G>A	XP_011521162.1:p.Arg13Lys
NM_001318756.1:c.38G>A	NP_001305685.1:p.Arg13Lys
NM_178452.5:c.794G>A	NP_848547.4:p.Arg265Lys
XM_006721129.3:c.794G>A	XP_006721192.1:p.Arg265Lys
XM_011522853.3:c.794G>A	XP_011521155.1:p.Arg265Lys
XM_011522854.3:c.794G>A	XP_011521156.1:p.Arg265Lys
XM_011522855.3:c.794G>A	XP_011521157.1:p.Arg265Lys
XM_011522857.3:c.794G>A	XP_011521159.1:p.Arg265Lys
XM_011522858.3:c.794G>A	XP_011521160.1:p.Arg265Lys
XM_017022918.2:c.794G>A	XP_016878407.1:p.Arg265Lys
XM_017022919.1:c.533G>A	XP_016878408.1:p.Arg178Lys
XM_017022920.2:c.38G>A	XP_016878409.1:p.Arg13Lys
XM_017022921.2:c.38G>A	XP_016878410.1:p.Arg13Lys
XM_017022922.2:c.38G>A	XP_016878411.1:p.Arg13Lys
XR_001751829.2:n.968G>A
XR_001751830.2:n.968G>A
XR_001751831.2:n.968G>A
XR_001751832.1:n.1277G>A
NM_178452.6:c.794G>A MANE Select	NP_848547.4:p.Arg265Lys