Canonical Allele Identifier: CA8203157

Gene: DNAAF1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84177742C>T , CM000678.2:g.84177742C>T	GRCh38
NC_000016.9:g.84211348C>T , CM000678.1:g.84211348C>T	GRCh37
NC_000016.8:g.82768849C>T	NCBI36
NG_021174.1:g.37484C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378553.10:c.2079C>T MANE Select	ENSP00000367815.5:p.Ser693=
ENST00000378553.9:c.2079C>T	ENSP00000367815.5:p.Ser693=
ENST00000562024.1:n.551C>T
ENST00000563818.5:n.1756C>T
ENST00000564928.1:c.160-648C>T
ENST00000569735.1:c.474C>T	ENSP00000454960.1:p.Ser158=
ENST00000570298.5:n.4532C>T
ENST00000623406.1:n.2515C>T
NM_178452.4:c.2079C>T	NP_848547.4:p.Ser693=
XM_006721129.1:c.2085C>T	XP_006721192.1:p.Ser695=
XM_011522850.1:c.2361C>T	XP_011521152.1:p.Ser787=
XM_011522851.1:c.2355C>T	XP_011521153.1:p.Ser785=
XM_011522852.1:c.2313C>T	XP_011521154.1:p.Ser771=
XM_011522853.1:c.2220C>T	XP_011521155.1:p.Ser740=
XM_011522854.1:c.2133C>T	XP_011521156.1:p.Ser711=
XM_011522855.1:c.2127C>T	XP_011521157.1:p.Ser709=
XM_011522856.1:c.2100C>T	XP_011521158.1:p.Ser700=
XM_011522859.1:c.1605C>T	XP_011521161.1:p.Ser535=
XM_011522860.1:c.1371C>T	XP_011521162.1:p.Ser457=
NM_001318756.1:c.1371C>T	NP_001305685.1:p.Ser457=
NM_178452.5:c.2079C>T	NP_848547.4:p.Ser693=
XM_006721129.3:c.2085C>T	XP_006721192.1:p.Ser695=
XM_011522853.3:c.2220C>T	XP_011521155.1:p.Ser740=
XM_011522854.3:c.2133C>T	XP_011521156.1:p.Ser711=
XM_011522855.3:c.2127C>T	XP_011521157.1:p.Ser709=
XM_017022918.2:c.2172C>T	XP_016878407.1:p.Ser724=
XM_017022919.1:c.1959C>T	XP_016878408.1:p.Ser653=
XM_017022920.2:c.1464C>T	XP_016878409.1:p.Ser488=
XM_017022921.2:c.1416C>T	XP_016878410.1:p.Ser472=
XM_017022922.2:c.1323C>T	XP_016878411.1:p.Ser441=
XR_001751829.2:n.2790C>T
XR_001751830.2:n.2784C>T
XR_001751831.2:n.2736C>T
XR_001751832.1:n.5338C>T
NM_178452.6:c.2079C>T MANE Select	NP_848547.4:p.Ser693=