Canonical Allele Identifier: CA372291810
Gene: DNAAF11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132572370T>G , CM000670.2:g.132572370T>G GRCh38
NC_000008.10:g.133584618T>G , CM000670.1:g.133584618T>G GRCh37
NC_000008.9:g.133653800T>G NCBI36
NG_033068.1:g.108246A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000620350.5:c.1337A>C MANE Select ENSP00000484634.1:p.Lys446Thr
ENST00000250173.5:c.*201A>C ENSP00000250173.2:n.*201A>C
ENST00000518642.5:c.*201A>C ENSP00000428610.1:n.*201A>C
ENST00000519595.5:c.1337A>C ENSP00000429791.1:p.Lys446Thr
ENST00000522789.5:c.557A>C ENSP00000428015.1:p.Lys186Thr
ENST00000618342.1:c.1337A>C ENSP00000484802.1:p.Lys446Thr
ENST00000620350.4:c.1337A>C ENSP00000484634.1:p.Lys446Thr
NM_012472.4:c.1337A>C NP_036604.2:p.Lys446Thr
NR_073525.1:n.1561A>C
XM_006716538.2:c.1355A>C XP_006716601.2:p.Lys452Thr
XM_011516950.1:c.1295A>C XP_011515252.1:p.Lys432Thr
XM_011516952.1:c.1091A>C XP_011515254.1:p.Lys364Thr
XM_011516953.1:c.977A>C XP_011515255.1:p.Lys326Thr
XM_011516954.1:c.977A>C XP_011515256.1:p.Lys326Thr
XR_428377.2:n.1589A>C
NM_001321961.1:c.1277A>C NP_001308890.1:p.Lys426Thr
NM_001321962.1:c.1091A>C NP_001308891.1:p.Lys364Thr
NM_001321963.1:c.977A>C NP_001308892.1:p.Lys326Thr
NM_001321964.1:c.977A>C NP_001308893.1:p.Lys326Thr
NM_001321965.1:c.977A>C NP_001308894.1:p.Lys326Thr
NM_001321966.1:c.917A>C NP_001308895.1:p.Lys306Thr
NM_012472.5:c.1337A>C NP_036604.2:p.Lys446Thr
NR_073525.2:n.1561A>C
NR_135905.1:n.1550A>C
NR_135906.1:n.991A>C
NR_135907.1:n.1237A>C
NR_135908.1:n.931A>C
NR_135909.1:n.1355A>C
NR_135910.1:n.1662A>C
NR_135911.1:n.1741A>C
NR_135912.1:n.2300A>C
NR_135913.1:n.1987A>C
XM_006716538.3:c.1355A>C XP_006716601.2:p.Lys452Thr
XM_011516950.2:c.1295A>C XP_011515252.1:p.Lys432Thr
XM_017013296.1:c.1235A>C XP_016868785.1:p.Lys412Thr
XM_017013297.1:c.977A>C XP_016868786.1:p.Lys326Thr
XM_017013298.1:c.977A>C XP_016868787.1:p.Lys326Thr
NM_012472.6:c.1337A>C MANE Select NP_036604.2:p.Lys446Thr
NM_001321961.2:c.1277A>C NP_001308890.1:p.Lys426Thr
NM_001321962.2:c.1091A>C NP_001308891.1:p.Lys364Thr
NM_001321963.2:c.977A>C NP_001308892.1:p.Lys326Thr
NM_001321964.2:c.977A>C NP_001308893.1:p.Lys326Thr
NM_001321965.2:c.977A>C NP_001308894.1:p.Lys326Thr
NM_001321966.2:c.917A>C NP_001308895.1:p.Lys306Thr
NR_073525.3:n.1489A>C
NR_135905.2:n.1478A>C
NR_135906.2:n.919A>C
NR_135907.2:n.1165A>C
NR_135908.2:n.859A>C
NR_135909.2:n.1375A>C
NR_135910.2:n.1725A>C
NR_135911.2:n.1845A>C
NR_135912.2:n.2404A>C
NR_135913.2:n.2091A>C