Canonical Allele Identifier: CA8202818

Gene: DNAAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84170127C>T , CM000678.2:g.84170127C>T	GRCh38
NC_000016.9:g.84203733C>T , CM000678.1:g.84203733C>T	GRCh37
NC_000016.8:g.82761234C>T	NCBI36
NG_021174.1:g.29869C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_178452.6:c.1299C>T MANE Select	NP_848547.4:p.Asp433=
ENST00000378553.10:c.1299C>T MANE Select	ENSP00000367815.5:p.Asp433=
NM_001318756.1:c.591C>T	NP_001305685.1:p.Asp197=
NM_178452.4:c.1299C>T	NP_848547.4:p.Asp433=
NM_178452.5:c.1299C>T	NP_848547.4:p.Asp433=
ENST00000378553.9:c.1299C>T	ENSP00000367815.5:p.Asp433=
ENST00000563093.5:c.1225+74C>T	ENSP00000457373.1:n.1225+74C>T
ENST00000563818.5:n.976C>T
ENST00000570298.5:n.1453C>T
XM_006721129.1:c.1299C>T	XP_006721192.1:p.Asp433=
XM_006721129.3:c.1299C>T	XP_006721192.1:p.Asp433=
XM_011522850.1:c.1347C>T	XP_011521152.1:p.Asp449=
XM_011522851.1:c.1347C>T	XP_011521153.1:p.Asp449=
XM_011522852.1:c.1299C>T	XP_011521154.1:p.Asp433=
XM_011522853.1:c.1347C>T	XP_011521155.1:p.Asp449=
XM_011522853.3:c.1347C>T	XP_011521155.1:p.Asp449=
XM_011522854.1:c.1347C>T	XP_011521156.1:p.Asp449=
XM_011522854.3:c.1347C>T	XP_011521156.1:p.Asp449=
XM_011522855.1:c.1347C>T	XP_011521157.1:p.Asp449=
XM_011522855.3:c.1347C>T	XP_011521157.1:p.Asp449=
XM_011522856.1:c.1086C>T	XP_011521158.1:p.Asp362=
XM_011522857.1:c.1347C>T	XP_011521159.1:p.Asp449=
XM_011522857.3:c.1347C>T	XP_011521159.1:p.Asp449=
XM_011522858.1:c.1347C>T	XP_011521160.1:p.Asp449=
XM_011522858.3:c.1347C>T	XP_011521160.1:p.Asp449=
XM_011522859.1:c.591C>T	XP_011521161.1:p.Asp197=
XM_011522860.1:c.591C>T	XP_011521162.1:p.Asp197=
XM_017022918.2:c.1299C>T	XP_016878407.1:p.Asp433=
XM_017022919.1:c.1086C>T	XP_016878408.1:p.Asp362=
XM_017022920.2:c.591C>T	XP_016878409.1:p.Asp197=
XM_017022921.2:c.543C>T	XP_016878410.1:p.Asp181=
XM_017022922.2:c.543C>T	XP_016878411.1:p.Asp181=
XR_001751829.2:n.1521C>T
XR_001751830.2:n.1521C>T
XR_001751831.2:n.1473C>T
XR_001751832.1:n.1782C>T