Canonical Allele Identifier: CA372291782

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584604C>T (hg19) ; chr8:g.132572356C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572356C>T , CM000670.2:g.132572356C>T	GRCh38
NC_000008.10:g.133584604C>T , CM000670.1:g.133584604C>T	GRCh37
NC_000008.9:g.133653786C>T	NCBI36
NG_033068.1:g.108260G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1351G>A MANE Select	ENSP00000484634.1:p.Glu451Lys
ENST00000250173.5:c.*215G>A	ENSP00000250173.2:n.*215G>A
ENST00000518642.5:c.*215G>A	ENSP00000428610.1:n.*215G>A
ENST00000519595.5:c.1351G>A	ENSP00000429791.1:p.Glu451Lys
ENST00000522789.5:c.571G>A	ENSP00000428015.1:p.Glu191Lys
ENST00000618342.1:c.1351G>A	ENSP00000484802.1:p.Glu451Lys
ENST00000620350.4:c.1351G>A	ENSP00000484634.1:p.Glu451Lys
NM_012472.4:c.1351G>A	NP_036604.2:p.Glu451Lys
NR_073525.1:n.1575G>A
XM_006716538.2:c.1369G>A	XP_006716601.2:p.Glu457Lys
XM_011516950.1:c.1309G>A	XP_011515252.1:p.Glu437Lys
XM_011516952.1:c.1105G>A	XP_011515254.1:p.Glu369Lys
XM_011516953.1:c.991G>A	XP_011515255.1:p.Glu331Lys
XM_011516954.1:c.991G>A	XP_011515256.1:p.Glu331Lys
XR_428377.2:n.1603G>A
NM_001321961.1:c.1291G>A	NP_001308890.1:p.Glu431Lys
NM_001321962.1:c.1105G>A	NP_001308891.1:p.Glu369Lys
NM_001321963.1:c.991G>A	NP_001308892.1:p.Glu331Lys
NM_001321964.1:c.991G>A	NP_001308893.1:p.Glu331Lys
NM_001321965.1:c.991G>A	NP_001308894.1:p.Glu331Lys
NM_001321966.1:c.931G>A	NP_001308895.1:p.Glu311Lys
NM_012472.5:c.1351G>A	NP_036604.2:p.Glu451Lys
NR_073525.2:n.1575G>A
NR_135905.1:n.1564G>A
NR_135906.1:n.1005G>A
NR_135907.1:n.1251G>A
NR_135908.1:n.945G>A
NR_135909.1:n.1369G>A
NR_135910.1:n.1676G>A
NR_135911.1:n.1755G>A
NR_135912.1:n.2314G>A
NR_135913.1:n.2001G>A
XM_006716538.3:c.1369G>A	XP_006716601.2:p.Glu457Lys
XM_011516950.2:c.1309G>A	XP_011515252.1:p.Glu437Lys
XM_017013296.1:c.1249G>A	XP_016868785.1:p.Glu417Lys
XM_017013297.1:c.991G>A	XP_016868786.1:p.Glu331Lys
XM_017013298.1:c.991G>A	XP_016868787.1:p.Glu331Lys
NM_012472.6:c.1351G>A MANE Select	NP_036604.2:p.Glu451Lys
NM_001321961.2:c.1291G>A	NP_001308890.1:p.Glu431Lys
NM_001321962.2:c.1105G>A	NP_001308891.1:p.Glu369Lys
NM_001321963.2:c.991G>A	NP_001308892.1:p.Glu331Lys
NM_001321964.2:c.991G>A	NP_001308893.1:p.Glu331Lys
NM_001321965.2:c.991G>A	NP_001308894.1:p.Glu331Lys
NM_001321966.2:c.931G>A	NP_001308895.1:p.Glu311Lys
NR_073525.3:n.1503G>A
NR_135905.2:n.1492G>A
NR_135906.2:n.933G>A
NR_135907.2:n.1179G>A
NR_135908.2:n.873G>A
NR_135909.2:n.1389G>A
NR_135910.2:n.1739G>A
NR_135911.2:n.1859G>A
NR_135912.2:n.2418G>A
NR_135913.2:n.2105G>A