Canonical Allele Identifier: CA337003

Gene: DNAAF1

Linked Data

• ClinVar Variation Id: 216831
• ClinVar RCV Id: RCV000197156 ; RCV001120255 ; RCV001195228 ; RCV002515467 ; RCV003977549
• dbSNP Id: rs145680314
• ExAC: 16:84203788 C / A
• gnomAD v2: 16-84203788-C-A
• gnomAD v3: 16-84170182-C-A
• gnomAD v4: 16-84170182-C-A
• MyVariant Identifiers: chr16:g.84203788C>A (hg19) ; chr16:g.84170182C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84170182C>A , CM000678.2:g.84170182C>A	GRCh38
NC_000016.9:g.84203788C>A , CM000678.1:g.84203788C>A	GRCh37
NC_000016.8:g.82761289C>A	NCBI36
NG_021174.1:g.29924C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378553.10:c.1354C>A MANE Select	ENSP00000367815.5:p.Pro452Thr
ENST00000378553.9:c.1354C>A	ENSP00000367815.5:p.Pro452Thr
ENST00000563093.5:c.1226-60C>A	ENSP00000457373.1:n.1226-60C>A
ENST00000563818.5:n.1031C>A
ENST00000570298.5:n.1508C>A
NM_178452.4:c.1354C>A	NP_848547.4:p.Pro452Thr
XM_006721129.1:c.1354C>A	XP_006721192.1:p.Pro452Thr
XM_011522850.1:c.1402C>A	XP_011521152.1:p.Pro468Thr
XM_011522851.1:c.1402C>A	XP_011521153.1:p.Pro468Thr
XM_011522852.1:c.1354C>A	XP_011521154.1:p.Pro452Thr
XM_011522853.1:c.1402C>A	XP_011521155.1:p.Pro468Thr
XM_011522854.1:c.1402C>A	XP_011521156.1:p.Pro468Thr
XM_011522855.1:c.1402C>A	XP_011521157.1:p.Pro468Thr
XM_011522856.1:c.1141C>A	XP_011521158.1:p.Pro381Thr
XM_011522857.1:c.1402C>A	XP_011521159.1:p.Pro468Thr
XM_011522858.1:c.1402C>A	XP_011521160.1:p.Pro468Thr
XM_011522859.1:c.646C>A	XP_011521161.1:p.Pro216Thr
XM_011522860.1:c.646C>A	XP_011521162.1:p.Pro216Thr
NM_001318756.1:c.646C>A	NP_001305685.1:p.Pro216Thr
NM_178452.5:c.1354C>A	NP_848547.4:p.Pro452Thr
XM_006721129.3:c.1354C>A	XP_006721192.1:p.Pro452Thr
XM_011522853.3:c.1402C>A	XP_011521155.1:p.Pro468Thr
XM_011522854.3:c.1402C>A	XP_011521156.1:p.Pro468Thr
XM_011522855.3:c.1402C>A	XP_011521157.1:p.Pro468Thr
XM_011522857.3:c.1402C>A	XP_011521159.1:p.Pro468Thr
XM_011522858.3:c.1402C>A	XP_011521160.1:p.Pro468Thr
XM_017022918.2:c.1354C>A	XP_016878407.1:p.Pro452Thr
XM_017022919.1:c.1141C>A	XP_016878408.1:p.Pro381Thr
XM_017022920.2:c.646C>A	XP_016878409.1:p.Pro216Thr
XM_017022921.2:c.598C>A	XP_016878410.1:p.Pro200Thr
XM_017022922.2:c.598C>A	XP_016878411.1:p.Pro200Thr
XR_001751829.2:n.1576C>A
XR_001751830.2:n.1576C>A
XR_001751831.2:n.1528C>A
XR_001751832.1:n.1837C>A
NM_178452.6:c.1354C>A MANE Select	NP_848547.4:p.Pro452Thr