Canonical Allele Identifier: CA463074074
Gene: DNAAF11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.133584593T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132572345T>C , CM000670.2:g.132572345T>C GRCh38
NC_000008.10:g.133584593T>C , CM000670.1:g.133584593T>C GRCh37
NC_000008.9:g.133653775T>C NCBI36
NG_033068.1:g.108271A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000620350.5:c.1362A>G MANE Select ENSP00000484634.1:p.Pro454=
ENST00000250173.5:c.*226A>G ENSP00000250173.2:n.*226A>G
ENST00000518642.5:c.*226A>G ENSP00000428610.1:n.*226A>G
ENST00000519595.5:c.1362A>G ENSP00000429791.1:p.Pro454=
ENST00000522789.5:c.582A>G ENSP00000428015.1:p.Pro194=
ENST00000618342.1:c.1362A>G ENSP00000484802.1:p.Pro454=
ENST00000620350.4:c.1362A>G ENSP00000484634.1:p.Pro454=
NM_012472.4:c.1362A>G NP_036604.2:p.Pro454=
NR_073525.1:n.1586A>G
XM_006716538.2:c.1380A>G XP_006716601.2:p.Pro460=
XM_011516950.1:c.1320A>G XP_011515252.1:p.Pro440=
XM_011516952.1:c.1116A>G XP_011515254.1:p.Pro372=
XM_011516953.1:c.1002A>G XP_011515255.1:p.Pro334=
XM_011516954.1:c.1002A>G XP_011515256.1:p.Pro334=
XR_428377.2:n.1614A>G
NM_001321961.1:c.1302A>G NP_001308890.1:p.Pro434=
NM_001321962.1:c.1116A>G NP_001308891.1:p.Pro372=
NM_001321963.1:c.1002A>G NP_001308892.1:p.Pro334=
NM_001321964.1:c.1002A>G NP_001308893.1:p.Pro334=
NM_001321965.1:c.1002A>G NP_001308894.1:p.Pro334=
NM_001321966.1:c.942A>G NP_001308895.1:p.Pro314=
NM_012472.5:c.1362A>G NP_036604.2:p.Pro454=
NR_073525.2:n.1586A>G
NR_135905.1:n.1575A>G
NR_135906.1:n.1016A>G
NR_135907.1:n.1262A>G
NR_135908.1:n.956A>G
NR_135909.1:n.1380A>G
NR_135910.1:n.1687A>G
NR_135911.1:n.1766A>G
NR_135912.1:n.2325A>G
NR_135913.1:n.2012A>G
XM_006716538.3:c.1380A>G XP_006716601.2:p.Pro460=
XM_011516950.2:c.1320A>G XP_011515252.1:p.Pro440=
XM_017013296.1:c.1260A>G XP_016868785.1:p.Pro420=
XM_017013297.1:c.1002A>G XP_016868786.1:p.Pro334=
XM_017013298.1:c.1002A>G XP_016868787.1:p.Pro334=
NM_012472.6:c.1362A>G MANE Select NP_036604.2:p.Pro454=
NM_001321961.2:c.1302A>G NP_001308890.1:p.Pro434=
NM_001321962.2:c.1116A>G NP_001308891.1:p.Pro372=
NM_001321963.2:c.1002A>G NP_001308892.1:p.Pro334=
NM_001321964.2:c.1002A>G NP_001308893.1:p.Pro334=
NM_001321965.2:c.1002A>G NP_001308894.1:p.Pro334=
NM_001321966.2:c.942A>G NP_001308895.1:p.Pro314=
NR_073525.3:n.1514A>G
NR_135905.2:n.1503A>G
NR_135906.2:n.944A>G
NR_135907.2:n.1190A>G
NR_135908.2:n.884A>G
NR_135909.2:n.1400A>G
NR_135910.2:n.1750A>G
NR_135911.2:n.1870A>G
NR_135912.2:n.2429A>G
NR_135913.2:n.2116A>G