Canonical Allele Identifier: CA8203190
Community Standard Title: NM_178452.6(DNAAF1):c.2165C>T (p.Pro722Leu)
Gene: DNAAF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.84177828C>T , CM000678.2:g.84177828C>T GRCh38
NC_000016.9:g.84211434C>T , CM000678.1:g.84211434C>T GRCh37
NC_000016.8:g.82768935C>T NCBI36
NG_021174.1:g.37570C>T

Transcript Alleles

HGVS Amino-acid Change
NM_178452.6:c.2165C>T MANE Select NP_848547.4:p.Pro722Leu
ENST00000378553.10:c.2165C>T MANE Select ENSP00000367815.5:p.Pro722Leu
NM_001318756.1:c.1457C>T NP_001305685.1:p.Pro486Leu
NM_178452.4:c.2165C>T NP_848547.4:p.Pro722Leu
NM_178452.5:c.2165C>T NP_848547.4:p.Pro722Leu
ENST00000378553.9:c.2165C>T ENSP00000367815.5:p.Pro722Leu
ENST00000562024.1:n.637C>T
ENST00000563818.5:n.1842C>T
ENST00000564928.1:c.160-562C>T
ENST00000569735.1:c.560C>T ENSP00000454960.1:p.Pro187Leu
ENST00000570298.5:n.4618C>T
ENST00000623406.1:n.2601C>T
XM_006721129.1:c.2171C>T XP_006721192.1:p.Pro724Leu
XM_006721129.3:c.2171C>T XP_006721192.1:p.Pro724Leu
XM_011522850.1:c.2447C>T XP_011521152.1:p.Pro816Leu
XM_011522851.1:c.2441C>T XP_011521153.1:p.Pro814Leu
XM_011522852.1:c.2399C>T XP_011521154.1:p.Pro800Leu
XM_011522853.1:c.2306C>T XP_011521155.1:p.Pro769Leu
XM_011522853.3:c.2306C>T XP_011521155.1:p.Pro769Leu
XM_011522854.1:c.2219C>T XP_011521156.1:p.Pro740Leu
XM_011522854.3:c.2219C>T XP_011521156.1:p.Pro740Leu
XM_011522855.1:c.2213C>T XP_011521157.1:p.Pro738Leu
XM_011522855.3:c.2213C>T XP_011521157.1:p.Pro738Leu
XM_011522856.1:c.2186C>T XP_011521158.1:p.Pro729Leu
XM_011522859.1:c.1691C>T XP_011521161.1:p.Pro564Leu
XM_011522860.1:c.1457C>T XP_011521162.1:p.Pro486Leu
XM_017022918.2:c.2258C>T XP_016878407.1:p.Pro753Leu
XM_017022919.1:c.2045C>T XP_016878408.1:p.Pro682Leu
XM_017022920.2:c.1550C>T XP_016878409.1:p.Pro517Leu
XM_017022921.2:c.1502C>T XP_016878410.1:p.Pro501Leu
XM_017022922.2:c.1409C>T XP_016878411.1:p.Pro470Leu
XR_001751829.2:n.2876C>T
XR_001751830.2:n.2870C>T
XR_001751831.2:n.2822C>T
XR_001751832.1:n.5424C>T