Canonical Allele Identifier: CA372291672
Gene: DNAAF11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132572306T>G , CM000670.2:g.132572306T>G GRCh38
NC_000008.10:g.133584554T>G , CM000670.1:g.133584554T>G GRCh37
NC_000008.9:g.133653736T>G NCBI36
NG_033068.1:g.108310A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000620350.5:c.1401A>C MANE Select ENSP00000484634.1:p.Ter467Cys
ENST00000250173.5:c.*265A>C ENSP00000250173.2:n.*265A>C
ENST00000518642.5:c.*265A>C ENSP00000428610.1:n.*265A>C
ENST00000519595.5:c.1401A>C ENSP00000429791.1:p.Ter467Cys
ENST00000522789.5:c.621A>C ENSP00000428015.1:p.Ter207Cys
ENST00000618342.1:c.1401A>C ENSP00000484802.1:p.Ter467Cys
ENST00000620350.4:c.1401A>C ENSP00000484634.1:p.Ter467Cys
NM_012472.4:c.1401A>C NP_036604.2:p.Ter467Cys
NR_073525.1:n.1625A>C
XM_006716538.2:c.1419A>C XP_006716601.2:p.Ter473Cys
XM_011516950.1:c.1359A>C XP_011515252.1:p.Ter453Cys
XM_011516952.1:c.1155A>C XP_011515254.1:p.Ter385Cys
XM_011516953.1:c.1041A>C XP_011515255.1:p.Ter347Cys
XM_011516954.1:c.1041A>C XP_011515256.1:p.Ter347Cys
XR_428377.2:n.1653A>C
NM_001321961.1:c.1341A>C NP_001308890.1:p.Ter447Cys
NM_001321962.1:c.1155A>C NP_001308891.1:p.Ter385Cys
NM_001321963.1:c.1041A>C NP_001308892.1:p.Ter347Cys
NM_001321964.1:c.1041A>C NP_001308893.1:p.Ter347Cys
NM_001321965.1:c.1041A>C NP_001308894.1:p.Ter347Cys
NM_001321966.1:c.981A>C NP_001308895.1:p.Ter327Cys
NM_012472.5:c.1401A>C NP_036604.2:p.Ter467Cys
NR_073525.2:n.1625A>C
NR_135905.1:n.1614A>C
NR_135906.1:n.1055A>C
NR_135907.1:n.1301A>C
NR_135908.1:n.995A>C
NR_135909.1:n.1419A>C
NR_135910.1:n.1726A>C
NR_135911.1:n.1805A>C
NR_135912.1:n.2364A>C
NR_135913.1:n.2051A>C
XM_006716538.3:c.1419A>C XP_006716601.2:p.Ter473Cys
XM_011516950.2:c.1359A>C XP_011515252.1:p.Ter453Cys
XM_017013296.1:c.1299A>C XP_016868785.1:p.Ter433Cys
XM_017013297.1:c.1041A>C XP_016868786.1:p.Ter347Cys
XM_017013298.1:c.1041A>C XP_016868787.1:p.Ter347Cys
NM_012472.6:c.1401A>C MANE Select NP_036604.2:p.Ter467Cys
NM_001321961.2:c.1341A>C NP_001308890.1:p.Ter447Cys
NM_001321962.2:c.1155A>C NP_001308891.1:p.Ter385Cys
NM_001321963.2:c.1041A>C NP_001308892.1:p.Ter347Cys
NM_001321964.2:c.1041A>C NP_001308893.1:p.Ter347Cys
NM_001321965.2:c.1041A>C NP_001308894.1:p.Ter347Cys
NM_001321966.2:c.981A>C NP_001308895.1:p.Ter327Cys
NR_073525.3:n.1553A>C
NR_135905.2:n.1542A>C
NR_135906.2:n.983A>C
NR_135907.2:n.1229A>C
NR_135908.2:n.923A>C
NR_135909.2:n.1439A>C
NR_135910.2:n.1789A>C
NR_135911.2:n.1909A>C
NR_135912.2:n.2468A>C
NR_135913.2:n.2155A>C