Canonical Allele Identifier: CA8202434

Gene: DNAAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84150293G>C , CM000678.2:g.84150293G>C	GRCh38
NC_000016.9:g.84183898G>C , CM000678.1:g.84183898G>C	GRCh37
NC_000016.8:g.82741399G>C	NCBI36
NG_021174.1:g.10034G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_178452.6:c.303G>C MANE Select	NP_848547.4:p.Lys101Asn
ENST00000378553.10:c.303G>C MANE Select	ENSP00000367815.5:p.Lys101Asn
NM_178452.4:c.303G>C	NP_848547.4:p.Lys101Asn
NM_178452.5:c.303G>C	NP_848547.4:p.Lys101Asn
ENST00000378553.9:c.303G>C	ENSP00000367815.5:p.Lys101Asn
ENST00000563093.5:c.303G>C	ENSP00000457373.1:p.Lys101Asn
ENST00000567918.5:c.303G>C	ENSP00000455154.1:p.Lys101Asn
ENST00000570298.5:n.457G>C
XM_006721129.1:c.303G>C	XP_006721192.1:p.Lys101Asn
XM_006721129.3:c.303G>C	XP_006721192.1:p.Lys101Asn
XM_011522850.1:c.303G>C	XP_011521152.1:p.Lys101Asn
XM_011522851.1:c.303G>C	XP_011521153.1:p.Lys101Asn
XM_011522852.1:c.303G>C	XP_011521154.1:p.Lys101Asn
XM_011522853.1:c.303G>C	XP_011521155.1:p.Lys101Asn
XM_011522853.3:c.303G>C	XP_011521155.1:p.Lys101Asn
XM_011522854.1:c.303G>C	XP_011521156.1:p.Lys101Asn
XM_011522854.3:c.303G>C	XP_011521156.1:p.Lys101Asn
XM_011522855.1:c.303G>C	XP_011521157.1:p.Lys101Asn
XM_011522855.3:c.303G>C	XP_011521157.1:p.Lys101Asn
XM_011522856.1:c.42G>C	XP_011521158.1:p.Lys14Asn
XM_011522857.1:c.303G>C	XP_011521159.1:p.Lys101Asn
XM_011522857.3:c.303G>C	XP_011521159.1:p.Lys101Asn
XM_011522858.1:c.303G>C	XP_011521160.1:p.Lys101Asn
XM_011522858.3:c.303G>C	XP_011521160.1:p.Lys101Asn
XM_017022918.2:c.303G>C	XP_016878407.1:p.Lys101Asn
XM_017022919.1:c.42G>C	XP_016878408.1:p.Lys14Asn
XR_001751829.2:n.477G>C
XR_001751830.2:n.477G>C
XR_001751831.2:n.477G>C
XR_001751832.1:n.786G>C