Canonical Allele Identifier: CA372291820

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584623T>A (hg19) ; chr8:g.132572375T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572375T>A , CM000670.2:g.132572375T>A	GRCh38
NC_000008.10:g.133584623T>A , CM000670.1:g.133584623T>A	GRCh37
NC_000008.9:g.133653805T>A	NCBI36
NG_033068.1:g.108241A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000620350.5:c.1332A>T MANE Select	ENSP00000484634.1:p.Glu444Asp
ENST00000250173.5:c.*196A>T	ENSP00000250173.2:n.*196A>T
ENST00000518642.5:c.*196A>T	ENSP00000428610.1:n.*196A>T
ENST00000519595.5:c.1332A>T	ENSP00000429791.1:p.Glu444Asp
ENST00000522789.5:c.552A>T	ENSP00000428015.1:p.Glu184Asp
ENST00000618342.1:c.1332A>T	ENSP00000484802.1:p.Glu444Asp
ENST00000620350.4:c.1332A>T	ENSP00000484634.1:p.Glu444Asp
NM_012472.4:c.1332A>T	NP_036604.2:p.Glu444Asp
NR_073525.1:n.1556A>T
XM_006716538.2:c.1350A>T	XP_006716601.2:p.Glu450Asp
XM_011516950.1:c.1290A>T	XP_011515252.1:p.Glu430Asp
XM_011516952.1:c.1086A>T	XP_011515254.1:p.Glu362Asp
XM_011516953.1:c.972A>T	XP_011515255.1:p.Glu324Asp
XM_011516954.1:c.972A>T	XP_011515256.1:p.Glu324Asp
XR_428377.2:n.1584A>T
NM_001321961.1:c.1272A>T	NP_001308890.1:p.Glu424Asp
NM_001321962.1:c.1086A>T	NP_001308891.1:p.Glu362Asp
NM_001321963.1:c.972A>T	NP_001308892.1:p.Glu324Asp
NM_001321964.1:c.972A>T	NP_001308893.1:p.Glu324Asp
NM_001321965.1:c.972A>T	NP_001308894.1:p.Glu324Asp
NM_001321966.1:c.912A>T	NP_001308895.1:p.Glu304Asp
NM_012472.5:c.1332A>T	NP_036604.2:p.Glu444Asp
NR_073525.2:n.1556A>T
NR_135905.1:n.1545A>T
NR_135906.1:n.986A>T
NR_135907.1:n.1232A>T
NR_135908.1:n.926A>T
NR_135909.1:n.1350A>T
NR_135910.1:n.1657A>T
NR_135911.1:n.1736A>T
NR_135912.1:n.2295A>T
NR_135913.1:n.1982A>T
XM_006716538.3:c.1350A>T	XP_006716601.2:p.Glu450Asp
XM_011516950.2:c.1290A>T	XP_011515252.1:p.Glu430Asp
XM_017013296.1:c.1230A>T	XP_016868785.1:p.Glu410Asp
XM_017013297.1:c.972A>T	XP_016868786.1:p.Glu324Asp
XM_017013298.1:c.972A>T	XP_016868787.1:p.Glu324Asp
NM_012472.6:c.1332A>T MANE Select	NP_036604.2:p.Glu444Asp
NM_001321961.2:c.1272A>T	NP_001308890.1:p.Glu424Asp
NM_001321962.2:c.1086A>T	NP_001308891.1:p.Glu362Asp
NM_001321963.2:c.972A>T	NP_001308892.1:p.Glu324Asp
NM_001321964.2:c.972A>T	NP_001308893.1:p.Glu324Asp
NM_001321965.2:c.972A>T	NP_001308894.1:p.Glu324Asp
NM_001321966.2:c.912A>T	NP_001308895.1:p.Glu304Asp
NR_073525.3:n.1484A>T
NR_135905.2:n.1473A>T
NR_135906.2:n.914A>T
NR_135907.2:n.1160A>T
NR_135908.2:n.854A>T
NR_135909.2:n.1370A>T
NR_135910.2:n.1720A>T
NR_135911.2:n.1840A>T
NR_135912.2:n.2399A>T
NR_135913.2:n.2086A>T