Canonical Allele Identifier: CA8203175

Gene: DNAAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.84177783C>T , CM000678.2:g.84177783C>T	GRCh38
NC_000016.9:g.84211389C>T , CM000678.1:g.84211389C>T	GRCh37
NC_000016.8:g.82768890C>T	NCBI36
NG_021174.1:g.37525C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378553.10:c.2120C>T MANE Select	ENSP00000367815.5:p.Pro707Leu
ENST00000378553.9:c.2120C>T	ENSP00000367815.5:p.Pro707Leu
ENST00000562024.1:n.592C>T
ENST00000563818.5:n.1797C>T
ENST00000564928.1:c.160-607C>T
ENST00000569735.1:c.515C>T	ENSP00000454960.1:p.Pro172Leu
ENST00000570298.5:n.4573C>T
ENST00000623406.1:n.2556C>T
NM_178452.4:c.2120C>T	NP_848547.4:p.Pro707Leu
XM_006721129.1:c.2126C>T	XP_006721192.1:p.Pro709Leu
XM_011522850.1:c.2402C>T	XP_011521152.1:p.Pro801Leu
XM_011522851.1:c.2396C>T	XP_011521153.1:p.Pro799Leu
XM_011522852.1:c.2354C>T	XP_011521154.1:p.Pro785Leu
XM_011522853.1:c.2261C>T	XP_011521155.1:p.Pro754Leu
XM_011522854.1:c.2174C>T	XP_011521156.1:p.Pro725Leu
XM_011522855.1:c.2168C>T	XP_011521157.1:p.Pro723Leu
XM_011522856.1:c.2141C>T	XP_011521158.1:p.Pro714Leu
XM_011522859.1:c.1646C>T	XP_011521161.1:p.Pro549Leu
XM_011522860.1:c.1412C>T	XP_011521162.1:p.Pro471Leu
NM_001318756.1:c.1412C>T	NP_001305685.1:p.Pro471Leu
NM_178452.5:c.2120C>T	NP_848547.4:p.Pro707Leu
XM_006721129.3:c.2126C>T	XP_006721192.1:p.Pro709Leu
XM_011522853.3:c.2261C>T	XP_011521155.1:p.Pro754Leu
XM_011522854.3:c.2174C>T	XP_011521156.1:p.Pro725Leu
XM_011522855.3:c.2168C>T	XP_011521157.1:p.Pro723Leu
XM_017022918.2:c.2213C>T	XP_016878407.1:p.Pro738Leu
XM_017022919.1:c.2000C>T	XP_016878408.1:p.Pro667Leu
XM_017022920.2:c.1505C>T	XP_016878409.1:p.Pro502Leu
XM_017022921.2:c.1457C>T	XP_016878410.1:p.Pro486Leu
XM_017022922.2:c.1364C>T	XP_016878411.1:p.Pro455Leu
XR_001751829.2:n.2831C>T
XR_001751830.2:n.2825C>T
XR_001751831.2:n.2777C>T
XR_001751832.1:n.5379C>T
NM_178452.6:c.2120C>T MANE Select	NP_848547.4:p.Pro707Leu