Canonical Allele Identifier: CA4881078

Gene: DNAAF11

Linked Data

• dbSNP Id: rs778964717
• ExAC: 8:133584624 T / A
• gnomAD v2: 8-133584624-T-A
• gnomAD v3: 8-132572376-T-A
• gnomAD v4: 8-132572376-T-A
• MyVariant Identifiers: chr8:g.133584624T>A (hg19) ; chr8:g.132572376T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572376T>A , CM000670.2:g.132572376T>A	GRCh38
NC_000008.10:g.133584624T>A , CM000670.1:g.133584624T>A	GRCh37
NC_000008.9:g.133653806T>A	NCBI36
NG_033068.1:g.108240A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1331A>T MANE Select	ENSP00000484634.1:p.Glu444Val
ENST00000250173.5:c.*195A>T	ENSP00000250173.2:n.*195A>T
ENST00000518642.5:c.*195A>T	ENSP00000428610.1:n.*195A>T
ENST00000519595.5:c.1331A>T	ENSP00000429791.1:p.Glu444Val
ENST00000522789.5:c.551A>T	ENSP00000428015.1:p.Glu184Val
ENST00000618342.1:c.1331A>T	ENSP00000484802.1:p.Glu444Val
ENST00000620350.4:c.1331A>T	ENSP00000484634.1:p.Glu444Val
NM_012472.4:c.1331A>T	NP_036604.2:p.Glu444Val
NR_073525.1:n.1555A>T
XM_006716538.2:c.1349A>T	XP_006716601.2:p.Glu450Val
XM_011516950.1:c.1289A>T	XP_011515252.1:p.Glu430Val
XM_011516952.1:c.1085A>T	XP_011515254.1:p.Glu362Val
XM_011516953.1:c.971A>T	XP_011515255.1:p.Glu324Val
XM_011516954.1:c.971A>T	XP_011515256.1:p.Glu324Val
XR_428377.2:n.1583A>T
NM_001321961.1:c.1271A>T	NP_001308890.1:p.Glu424Val
NM_001321962.1:c.1085A>T	NP_001308891.1:p.Glu362Val
NM_001321963.1:c.971A>T	NP_001308892.1:p.Glu324Val
NM_001321964.1:c.971A>T	NP_001308893.1:p.Glu324Val
NM_001321965.1:c.971A>T	NP_001308894.1:p.Glu324Val
NM_001321966.1:c.911A>T	NP_001308895.1:p.Glu304Val
NM_012472.5:c.1331A>T	NP_036604.2:p.Glu444Val
NR_073525.2:n.1555A>T
NR_135905.1:n.1544A>T
NR_135906.1:n.985A>T
NR_135907.1:n.1231A>T
NR_135908.1:n.925A>T
NR_135909.1:n.1349A>T
NR_135910.1:n.1656A>T
NR_135911.1:n.1735A>T
NR_135912.1:n.2294A>T
NR_135913.1:n.1981A>T
XM_006716538.3:c.1349A>T	XP_006716601.2:p.Glu450Val
XM_011516950.2:c.1289A>T	XP_011515252.1:p.Glu430Val
XM_017013296.1:c.1229A>T	XP_016868785.1:p.Glu410Val
XM_017013297.1:c.971A>T	XP_016868786.1:p.Glu324Val
XM_017013298.1:c.971A>T	XP_016868787.1:p.Glu324Val
NM_012472.6:c.1331A>T MANE Select	NP_036604.2:p.Glu444Val
NM_001321961.2:c.1271A>T	NP_001308890.1:p.Glu424Val
NM_001321962.2:c.1085A>T	NP_001308891.1:p.Glu362Val
NM_001321963.2:c.971A>T	NP_001308892.1:p.Glu324Val
NM_001321964.2:c.971A>T	NP_001308893.1:p.Glu324Val
NM_001321965.2:c.971A>T	NP_001308894.1:p.Glu324Val
NM_001321966.2:c.911A>T	NP_001308895.1:p.Glu304Val
NR_073525.3:n.1483A>T
NR_135905.2:n.1472A>T
NR_135906.2:n.913A>T
NR_135907.2:n.1159A>T
NR_135908.2:n.853A>T
NR_135909.2:n.1369A>T
NR_135910.2:n.1719A>T
NR_135911.2:n.1839A>T
NR_135912.2:n.2398A>T
NR_135913.2:n.2085A>T