Canonical Allele Identifier: CA8203155

Gene: DNAAF1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84177733G>A , CM000678.2:g.84177733G>A	GRCh38
NC_000016.9:g.84211339G>A , CM000678.1:g.84211339G>A	GRCh37
NC_000016.8:g.82768840G>A	NCBI36
NG_021174.1:g.37475G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378553.10:c.2070G>A MANE Select	ENSP00000367815.5:p.Pro690=
ENST00000378553.9:c.2070G>A	ENSP00000367815.5:p.Pro690=
ENST00000562024.1:n.542G>A
ENST00000563818.5:n.1747G>A
ENST00000564928.1:c.160-657G>A
ENST00000569735.1:c.465G>A	ENSP00000454960.1:p.Pro155=
ENST00000570298.5:n.4523G>A
ENST00000623406.1:n.2506G>A
NM_178452.4:c.2070G>A	NP_848547.4:p.Pro690=
XM_006721129.1:c.2076G>A	XP_006721192.1:p.Pro692=
XM_011522850.1:c.2352G>A	XP_011521152.1:p.Pro784=
XM_011522851.1:c.2346G>A	XP_011521153.1:p.Pro782=
XM_011522852.1:c.2304G>A	XP_011521154.1:p.Pro768=
XM_011522853.1:c.2211G>A	XP_011521155.1:p.Pro737=
XM_011522854.1:c.2124G>A	XP_011521156.1:p.Pro708=
XM_011522855.1:c.2118G>A	XP_011521157.1:p.Pro706=
XM_011522856.1:c.2091G>A	XP_011521158.1:p.Pro697=
XM_011522859.1:c.1596G>A	XP_011521161.1:p.Pro532=
XM_011522860.1:c.1362G>A	XP_011521162.1:p.Pro454=
NM_001318756.1:c.1362G>A	NP_001305685.1:p.Pro454=
NM_178452.5:c.2070G>A	NP_848547.4:p.Pro690=
XM_006721129.3:c.2076G>A	XP_006721192.1:p.Pro692=
XM_011522853.3:c.2211G>A	XP_011521155.1:p.Pro737=
XM_011522854.3:c.2124G>A	XP_011521156.1:p.Pro708=
XM_011522855.3:c.2118G>A	XP_011521157.1:p.Pro706=
XM_017022918.2:c.2163G>A	XP_016878407.1:p.Pro721=
XM_017022919.1:c.1950G>A	XP_016878408.1:p.Pro650=
XM_017022920.2:c.1455G>A	XP_016878409.1:p.Pro485=
XM_017022921.2:c.1407G>A	XP_016878410.1:p.Pro469=
XM_017022922.2:c.1314G>A	XP_016878411.1:p.Pro438=
XR_001751829.2:n.2781G>A
XR_001751830.2:n.2775G>A
XR_001751831.2:n.2727G>A
XR_001751832.1:n.5329G>A
NM_178452.6:c.2070G>A MANE Select	NP_848547.4:p.Pro690=