Canonical Allele Identifier: CA396948173

Gene: DNAAF1

Linked Data

• MyVariant Identifiers: chr16:g.84203734G>C (hg19) ; chr16:g.84170128G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84170128G>C , CM000678.2:g.84170128G>C	GRCh38
NC_000016.9:g.84203734G>C , CM000678.1:g.84203734G>C	GRCh37
NC_000016.8:g.82761235G>C	NCBI36
NG_021174.1:g.29870G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378553.10:c.1300G>C MANE Select	ENSP00000367815.5:p.Gly434Arg
ENST00000378553.9:c.1300G>C	ENSP00000367815.5:p.Gly434Arg
ENST00000563093.5:c.1225+75G>C	ENSP00000457373.1:n.1225+75G>C
ENST00000563818.5:n.977G>C
ENST00000570298.5:n.1454G>C
NM_178452.4:c.1300G>C	NP_848547.4:p.Gly434Arg
XM_006721129.1:c.1300G>C	XP_006721192.1:p.Gly434Arg
XM_011522850.1:c.1348G>C	XP_011521152.1:p.Gly450Arg
XM_011522851.1:c.1348G>C	XP_011521153.1:p.Gly450Arg
XM_011522852.1:c.1300G>C	XP_011521154.1:p.Gly434Arg
XM_011522853.1:c.1348G>C	XP_011521155.1:p.Gly450Arg
XM_011522854.1:c.1348G>C	XP_011521156.1:p.Gly450Arg
XM_011522855.1:c.1348G>C	XP_011521157.1:p.Gly450Arg
XM_011522856.1:c.1087G>C	XP_011521158.1:p.Gly363Arg
XM_011522857.1:c.1348G>C	XP_011521159.1:p.Gly450Arg
XM_011522858.1:c.1348G>C	XP_011521160.1:p.Gly450Arg
XM_011522859.1:c.592G>C	XP_011521161.1:p.Gly198Arg
XM_011522860.1:c.592G>C	XP_011521162.1:p.Gly198Arg
NM_001318756.1:c.592G>C	NP_001305685.1:p.Gly198Arg
NM_178452.5:c.1300G>C	NP_848547.4:p.Gly434Arg
XM_006721129.3:c.1300G>C	XP_006721192.1:p.Gly434Arg
XM_011522853.3:c.1348G>C	XP_011521155.1:p.Gly450Arg
XM_011522854.3:c.1348G>C	XP_011521156.1:p.Gly450Arg
XM_011522855.3:c.1348G>C	XP_011521157.1:p.Gly450Arg
XM_011522857.3:c.1348G>C	XP_011521159.1:p.Gly450Arg
XM_011522858.3:c.1348G>C	XP_011521160.1:p.Gly450Arg
XM_017022918.2:c.1300G>C	XP_016878407.1:p.Gly434Arg
XM_017022919.1:c.1087G>C	XP_016878408.1:p.Gly363Arg
XM_017022920.2:c.592G>C	XP_016878409.1:p.Gly198Arg
XM_017022921.2:c.544G>C	XP_016878410.1:p.Gly182Arg
XM_017022922.2:c.544G>C	XP_016878411.1:p.Gly182Arg
XR_001751829.2:n.1522G>C
XR_001751830.2:n.1522G>C
XR_001751831.2:n.1474G>C
XR_001751832.1:n.1783G>C
NM_178452.6:c.1300G>C MANE Select	NP_848547.4:p.Gly434Arg