Canonical Allele Identifier: CA463074099
Gene: DNAAF11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.133584634T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132572386T>G , CM000670.2:g.132572386T>G GRCh38
NC_000008.10:g.133584634T>G , CM000670.1:g.133584634T>G GRCh37
NC_000008.9:g.133653816T>G NCBI36
NG_033068.1:g.108230A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000620350.5:c.1321A>C MANE Select ENSP00000484634.1:p.Arg441=
ENST00000250173.5:c.*185A>C ENSP00000250173.2:n.*185A>C
ENST00000518642.5:c.*185A>C ENSP00000428610.1:n.*185A>C
ENST00000519595.5:c.1321A>C ENSP00000429791.1:p.Arg441=
ENST00000522789.5:c.541A>C ENSP00000428015.1:p.Arg181=
ENST00000618342.1:c.1321A>C ENSP00000484802.1:p.Arg441=
ENST00000620350.4:c.1321A>C ENSP00000484634.1:p.Arg441=
NM_012472.4:c.1321A>C NP_036604.2:p.Arg441=
NR_073525.1:n.1545A>C
XM_006716538.2:c.1339A>C XP_006716601.2:p.Arg447=
XM_011516950.1:c.1279A>C XP_011515252.1:p.Arg427=
XM_011516952.1:c.1075A>C XP_011515254.1:p.Arg359=
XM_011516953.1:c.961A>C XP_011515255.1:p.Arg321=
XM_011516954.1:c.961A>C XP_011515256.1:p.Arg321=
XR_428377.2:n.1573A>C
NM_001321961.1:c.1261A>C NP_001308890.1:p.Arg421=
NM_001321962.1:c.1075A>C NP_001308891.1:p.Arg359=
NM_001321963.1:c.961A>C NP_001308892.1:p.Arg321=
NM_001321964.1:c.961A>C NP_001308893.1:p.Arg321=
NM_001321965.1:c.961A>C NP_001308894.1:p.Arg321=
NM_001321966.1:c.901A>C NP_001308895.1:p.Arg301=
NM_012472.5:c.1321A>C NP_036604.2:p.Arg441=
NR_073525.2:n.1545A>C
NR_135905.1:n.1534A>C
NR_135906.1:n.975A>C
NR_135907.1:n.1221A>C
NR_135908.1:n.915A>C
NR_135909.1:n.1339A>C
NR_135910.1:n.1646A>C
NR_135911.1:n.1725A>C
NR_135912.1:n.2284A>C
NR_135913.1:n.1971A>C
XM_006716538.3:c.1339A>C XP_006716601.2:p.Arg447=
XM_011516950.2:c.1279A>C XP_011515252.1:p.Arg427=
XM_017013296.1:c.1219A>C XP_016868785.1:p.Arg407=
XM_017013297.1:c.961A>C XP_016868786.1:p.Arg321=
XM_017013298.1:c.961A>C XP_016868787.1:p.Arg321=
NM_012472.6:c.1321A>C MANE Select NP_036604.2:p.Arg441=
NM_001321961.2:c.1261A>C NP_001308890.1:p.Arg421=
NM_001321962.2:c.1075A>C NP_001308891.1:p.Arg359=
NM_001321963.2:c.961A>C NP_001308892.1:p.Arg321=
NM_001321964.2:c.961A>C NP_001308893.1:p.Arg321=
NM_001321965.2:c.961A>C NP_001308894.1:p.Arg321=
NM_001321966.2:c.901A>C NP_001308895.1:p.Arg301=
NR_073525.3:n.1473A>C
NR_135905.2:n.1462A>C
NR_135906.2:n.903A>C
NR_135907.2:n.1149A>C
NR_135908.2:n.843A>C
NR_135909.2:n.1359A>C
NR_135910.2:n.1709A>C
NR_135911.2:n.1829A>C
NR_135912.2:n.2388A>C
NR_135913.2:n.2075A>C