Canonical Allele Identifier: CA8203020

Gene: DNAAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84175969T>C , CM000678.2:g.84175969T>C	GRCh38
NC_000016.9:g.84209575T>C , CM000678.1:g.84209575T>C	GRCh37
NC_000016.8:g.82767076T>C	NCBI36
NG_021174.1:g.35711T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_178452.6:c.1735T>C MANE Select	NP_848547.4:p.Leu579=
ENST00000378553.10:c.1735T>C MANE Select	ENSP00000367815.5:p.Leu579=
NM_001318756.1:c.1027T>C	NP_001305685.1:p.Leu343=
NM_178452.4:c.1735T>C	NP_848547.4:p.Leu579=
NM_178452.5:c.1735T>C	NP_848547.4:p.Leu579=
ENST00000378553.9:c.1735T>C	ENSP00000367815.5:p.Leu579=
ENST00000562024.1:n.207T>C
ENST00000563818.5:n.1412T>C
ENST00000569735.1:c.37T>C	ENSP00000454960.1:p.Leu13=
ENST00000570298.5:n.4188T>C
ENST00000623406.1:n.742T>C
XM_006721129.1:c.1741T>C	XP_006721192.1:p.Leu581=
XM_006721129.3:c.1741T>C	XP_006721192.1:p.Leu581=
XM_011522850.1:c.2017T>C	XP_011521152.1:p.Leu673=
XM_011522851.1:c.2011T>C	XP_011521153.1:p.Leu671=
XM_011522852.1:c.1969T>C	XP_011521154.1:p.Leu657=
XM_011522853.1:c.1783T>C	XP_011521155.1:p.Leu595=
XM_011522853.3:c.1783T>C	XP_011521155.1:p.Leu595=
XM_011522854.1:c.1789T>C	XP_011521156.1:p.Leu597=
XM_011522854.3:c.1789T>C	XP_011521156.1:p.Leu597=
XM_011522855.1:c.1783T>C	XP_011521157.1:p.Leu595=
XM_011522855.3:c.1783T>C	XP_011521157.1:p.Leu595=
XM_011522856.1:c.1756T>C	XP_011521158.1:p.Leu586=
XM_011522859.1:c.1261T>C	XP_011521161.1:p.Leu421=
XM_011522860.1:c.1027T>C	XP_011521162.1:p.Leu343=
XM_017022918.2:c.1735T>C	XP_016878407.1:p.Leu579=
XM_017022919.1:c.1522T>C	XP_016878408.1:p.Leu508=
XM_017022920.2:c.1027T>C	XP_016878409.1:p.Leu343=
XM_017022921.2:c.979T>C	XP_016878410.1:p.Leu327=
XM_017022922.2:c.979T>C	XP_016878411.1:p.Leu327=
XR_001751829.2:n.2446T>C
XR_001751830.2:n.2440T>C
XR_001751831.2:n.2392T>C
XR_001751832.1:n.4994T>C