Canonical Allele Identifier: CA463074095
Gene: DNAAF11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.133584629T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132572381T>A , CM000670.2:g.132572381T>A GRCh38
NC_000008.10:g.133584629T>A , CM000670.1:g.133584629T>A GRCh37
NC_000008.9:g.133653811T>A NCBI36
NG_033068.1:g.108235A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000620350.5:c.1326A>T MANE Select ENSP00000484634.1:p.Arg442=
ENST00000250173.5:c.*190A>T ENSP00000250173.2:n.*190A>T
ENST00000518642.5:c.*190A>T ENSP00000428610.1:n.*190A>T
ENST00000519595.5:c.1326A>T ENSP00000429791.1:p.Arg442=
ENST00000522789.5:c.546A>T ENSP00000428015.1:p.Arg182=
ENST00000618342.1:c.1326A>T ENSP00000484802.1:p.Arg442=
ENST00000620350.4:c.1326A>T ENSP00000484634.1:p.Arg442=
NM_012472.4:c.1326A>T NP_036604.2:p.Arg442=
NR_073525.1:n.1550A>T
XM_006716538.2:c.1344A>T XP_006716601.2:p.Arg448=
XM_011516950.1:c.1284A>T XP_011515252.1:p.Arg428=
XM_011516952.1:c.1080A>T XP_011515254.1:p.Arg360=
XM_011516953.1:c.966A>T XP_011515255.1:p.Arg322=
XM_011516954.1:c.966A>T XP_011515256.1:p.Arg322=
XR_428377.2:n.1578A>T
NM_001321961.1:c.1266A>T NP_001308890.1:p.Arg422=
NM_001321962.1:c.1080A>T NP_001308891.1:p.Arg360=
NM_001321963.1:c.966A>T NP_001308892.1:p.Arg322=
NM_001321964.1:c.966A>T NP_001308893.1:p.Arg322=
NM_001321965.1:c.966A>T NP_001308894.1:p.Arg322=
NM_001321966.1:c.906A>T NP_001308895.1:p.Arg302=
NM_012472.5:c.1326A>T NP_036604.2:p.Arg442=
NR_073525.2:n.1550A>T
NR_135905.1:n.1539A>T
NR_135906.1:n.980A>T
NR_135907.1:n.1226A>T
NR_135908.1:n.920A>T
NR_135909.1:n.1344A>T
NR_135910.1:n.1651A>T
NR_135911.1:n.1730A>T
NR_135912.1:n.2289A>T
NR_135913.1:n.1976A>T
XM_006716538.3:c.1344A>T XP_006716601.2:p.Arg448=
XM_011516950.2:c.1284A>T XP_011515252.1:p.Arg428=
XM_017013296.1:c.1224A>T XP_016868785.1:p.Arg408=
XM_017013297.1:c.966A>T XP_016868786.1:p.Arg322=
XM_017013298.1:c.966A>T XP_016868787.1:p.Arg322=
NM_012472.6:c.1326A>T MANE Select NP_036604.2:p.Arg442=
NM_001321961.2:c.1266A>T NP_001308890.1:p.Arg422=
NM_001321962.2:c.1080A>T NP_001308891.1:p.Arg360=
NM_001321963.2:c.966A>T NP_001308892.1:p.Arg322=
NM_001321964.2:c.966A>T NP_001308893.1:p.Arg322=
NM_001321965.2:c.966A>T NP_001308894.1:p.Arg322=
NM_001321966.2:c.906A>T NP_001308895.1:p.Arg302=
NR_073525.3:n.1478A>T
NR_135905.2:n.1467A>T
NR_135906.2:n.908A>T
NR_135907.2:n.1154A>T
NR_135908.2:n.848A>T
NR_135909.2:n.1364A>T
NR_135910.2:n.1714A>T
NR_135911.2:n.1834A>T
NR_135912.2:n.2393A>T
NR_135913.2:n.2080A>T