Canonical Allele Identifier: CA372291798

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584612A>T (hg19) ; chr8:g.132572364A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572364A>T , CM000670.2:g.132572364A>T	GRCh38
NC_000008.10:g.133584612A>T , CM000670.1:g.133584612A>T	GRCh37
NC_000008.9:g.133653794A>T	NCBI36
NG_033068.1:g.108252T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000620350.5:c.1343T>A MANE Select	ENSP00000484634.1:p.Ile448Lys
ENST00000250173.5:c.*207T>A	ENSP00000250173.2:n.*207T>A
ENST00000518642.5:c.*207T>A	ENSP00000428610.1:n.*207T>A
ENST00000519595.5:c.1343T>A	ENSP00000429791.1:p.Ile448Lys
ENST00000522789.5:c.563T>A	ENSP00000428015.1:p.Ile188Lys
ENST00000618342.1:c.1343T>A	ENSP00000484802.1:p.Ile448Lys
ENST00000620350.4:c.1343T>A	ENSP00000484634.1:p.Ile448Lys
NM_012472.4:c.1343T>A	NP_036604.2:p.Ile448Lys
NR_073525.1:n.1567T>A
XM_006716538.2:c.1361T>A	XP_006716601.2:p.Ile454Lys
XM_011516950.1:c.1301T>A	XP_011515252.1:p.Ile434Lys
XM_011516952.1:c.1097T>A	XP_011515254.1:p.Ile366Lys
XM_011516953.1:c.983T>A	XP_011515255.1:p.Ile328Lys
XM_011516954.1:c.983T>A	XP_011515256.1:p.Ile328Lys
XR_428377.2:n.1595T>A
NM_001321961.1:c.1283T>A	NP_001308890.1:p.Ile428Lys
NM_001321962.1:c.1097T>A	NP_001308891.1:p.Ile366Lys
NM_001321963.1:c.983T>A	NP_001308892.1:p.Ile328Lys
NM_001321964.1:c.983T>A	NP_001308893.1:p.Ile328Lys
NM_001321965.1:c.983T>A	NP_001308894.1:p.Ile328Lys
NM_001321966.1:c.923T>A	NP_001308895.1:p.Ile308Lys
NM_012472.5:c.1343T>A	NP_036604.2:p.Ile448Lys
NR_073525.2:n.1567T>A
NR_135905.1:n.1556T>A
NR_135906.1:n.997T>A
NR_135907.1:n.1243T>A
NR_135908.1:n.937T>A
NR_135909.1:n.1361T>A
NR_135910.1:n.1668T>A
NR_135911.1:n.1747T>A
NR_135912.1:n.2306T>A
NR_135913.1:n.1993T>A
XM_006716538.3:c.1361T>A	XP_006716601.2:p.Ile454Lys
XM_011516950.2:c.1301T>A	XP_011515252.1:p.Ile434Lys
XM_017013296.1:c.1241T>A	XP_016868785.1:p.Ile414Lys
XM_017013297.1:c.983T>A	XP_016868786.1:p.Ile328Lys
XM_017013298.1:c.983T>A	XP_016868787.1:p.Ile328Lys
NM_012472.6:c.1343T>A MANE Select	NP_036604.2:p.Ile448Lys
NM_001321961.2:c.1283T>A	NP_001308890.1:p.Ile428Lys
NM_001321962.2:c.1097T>A	NP_001308891.1:p.Ile366Lys
NM_001321963.2:c.983T>A	NP_001308892.1:p.Ile328Lys
NM_001321964.2:c.983T>A	NP_001308893.1:p.Ile328Lys
NM_001321965.2:c.983T>A	NP_001308894.1:p.Ile328Lys
NM_001321966.2:c.923T>A	NP_001308895.1:p.Ile308Lys
NR_073525.3:n.1495T>A
NR_135905.2:n.1484T>A
NR_135906.2:n.925T>A
NR_135907.2:n.1171T>A
NR_135908.2:n.865T>A
NR_135909.2:n.1381T>A
NR_135910.2:n.1731T>A
NR_135911.2:n.1851T>A
NR_135912.2:n.2410T>A
NR_135913.2:n.2097T>A