Canonical Allele Identifier: CA8203007

Gene: DNAAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84175892T>C , CM000678.2:g.84175892T>C	GRCh38
NC_000016.9:g.84209498T>C , CM000678.1:g.84209498T>C	GRCh37
NC_000016.8:g.82766999T>C	NCBI36
NG_021174.1:g.35634T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_178452.6:c.1699-41T>C MANE Select	NP_848547.4:n.1699-41T>C
ENST00000378553.10:c.1699-41T>C MANE Select	ENSP00000367815.5:n.1699-41T>C
NM_001318756.1:c.991-41T>C	NP_001305685.1:n.991-41T>C
NM_178452.4:c.1699-41T>C	NP_848547.4:n.1699-41T>C
NM_178452.5:c.1699-41T>C	NP_848547.4:n.1699-41T>C
ENST00000378553.9:c.1699-41T>C	ENSP00000367815.5:n.1699-41T>C
ENST00000562024.1:n.130T>C
ENST00000563818.5:n.1376-41T>C
ENST00000570298.5:n.4152-41T>C
ENST00000623406.1:n.665T>C
XM_006721129.1:c.1705-41T>C	XP_006721192.1:n.1705-41T>C
XM_006721129.3:c.1705-41T>C	XP_006721192.1:n.1705-41T>C
XM_011522850.1:c.1981-41T>C	XP_011521152.1:n.1981-41T>C
XM_011522851.1:c.1975-41T>C	XP_011521153.1:n.1975-41T>C
XM_011522852.1:c.1933-41T>C	XP_011521154.1:n.1933-41T>C
XM_011522853.1:c.1747-41T>C	XP_011521155.1:n.1747-41T>C
XM_011522853.3:c.1747-41T>C	XP_011521155.1:n.1747-41T>C
XM_011522854.1:c.1753-41T>C	XP_011521156.1:n.1753-41T>C
XM_011522854.3:c.1753-41T>C	XP_011521156.1:n.1753-41T>C
XM_011522855.1:c.1747-41T>C	XP_011521157.1:n.1747-41T>C
XM_011522855.3:c.1747-41T>C	XP_011521157.1:n.1747-41T>C
XM_011522856.1:c.1720-41T>C	XP_011521158.1:n.1720-41T>C
XM_011522859.1:c.1225-41T>C	XP_011521161.1:n.1225-41T>C
XM_011522860.1:c.991-41T>C	XP_011521162.1:n.991-41T>C
XM_017022918.2:c.1699-41T>C	XP_016878407.1:n.1699-41T>C
XM_017022919.1:c.1486-41T>C	XP_016878408.1:n.1486-41T>C
XM_017022920.2:c.991-41T>C	XP_016878409.1:n.991-41T>C
XM_017022921.2:c.943-41T>C	XP_016878410.1:n.943-41T>C
XM_017022922.2:c.943-41T>C	XP_016878411.1:n.943-41T>C
XR_001751829.2:n.2369T>C
XR_001751830.2:n.2363T>C
XR_001751831.2:n.2315T>C
XR_001751832.1:n.4917T>C