Canonical Allele Identifier: CA372291748

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584589A>T (hg19) ; chr8:g.132572341A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572341A>T , CM000670.2:g.132572341A>T	GRCh38
NC_000008.10:g.133584589A>T , CM000670.1:g.133584589A>T	GRCh37
NC_000008.9:g.133653771A>T	NCBI36
NG_033068.1:g.108275T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1366T>A MANE Select	ENSP00000484634.1:p.Phe456Ile
ENST00000250173.5:c.*230T>A	ENSP00000250173.2:n.*230T>A
ENST00000518642.5:c.*230T>A	ENSP00000428610.1:n.*230T>A
ENST00000519595.5:c.1366T>A	ENSP00000429791.1:p.Phe456Ile
ENST00000522789.5:c.586T>A	ENSP00000428015.1:p.Phe196Ile
ENST00000618342.1:c.1366T>A	ENSP00000484802.1:p.Phe456Ile
ENST00000620350.4:c.1366T>A	ENSP00000484634.1:p.Phe456Ile
NM_012472.4:c.1366T>A	NP_036604.2:p.Phe456Ile
NR_073525.1:n.1590T>A
XM_006716538.2:c.1384T>A	XP_006716601.2:p.Phe462Ile
XM_011516950.1:c.1324T>A	XP_011515252.1:p.Phe442Ile
XM_011516952.1:c.1120T>A	XP_011515254.1:p.Phe374Ile
XM_011516953.1:c.1006T>A	XP_011515255.1:p.Phe336Ile
XM_011516954.1:c.1006T>A	XP_011515256.1:p.Phe336Ile
XR_428377.2:n.1618T>A
NM_001321961.1:c.1306T>A	NP_001308890.1:p.Phe436Ile
NM_001321962.1:c.1120T>A	NP_001308891.1:p.Phe374Ile
NM_001321963.1:c.1006T>A	NP_001308892.1:p.Phe336Ile
NM_001321964.1:c.1006T>A	NP_001308893.1:p.Phe336Ile
NM_001321965.1:c.1006T>A	NP_001308894.1:p.Phe336Ile
NM_001321966.1:c.946T>A	NP_001308895.1:p.Phe316Ile
NM_012472.5:c.1366T>A	NP_036604.2:p.Phe456Ile
NR_073525.2:n.1590T>A
NR_135905.1:n.1579T>A
NR_135906.1:n.1020T>A
NR_135907.1:n.1266T>A
NR_135908.1:n.960T>A
NR_135909.1:n.1384T>A
NR_135910.1:n.1691T>A
NR_135911.1:n.1770T>A
NR_135912.1:n.2329T>A
NR_135913.1:n.2016T>A
XM_006716538.3:c.1384T>A	XP_006716601.2:p.Phe462Ile
XM_011516950.2:c.1324T>A	XP_011515252.1:p.Phe442Ile
XM_017013296.1:c.1264T>A	XP_016868785.1:p.Phe422Ile
XM_017013297.1:c.1006T>A	XP_016868786.1:p.Phe336Ile
XM_017013298.1:c.1006T>A	XP_016868787.1:p.Phe336Ile
NM_012472.6:c.1366T>A MANE Select	NP_036604.2:p.Phe456Ile
NM_001321961.2:c.1306T>A	NP_001308890.1:p.Phe436Ile
NM_001321962.2:c.1120T>A	NP_001308891.1:p.Phe374Ile
NM_001321963.2:c.1006T>A	NP_001308892.1:p.Phe336Ile
NM_001321964.2:c.1006T>A	NP_001308893.1:p.Phe336Ile
NM_001321965.2:c.1006T>A	NP_001308894.1:p.Phe336Ile
NM_001321966.2:c.946T>A	NP_001308895.1:p.Phe316Ile
NR_073525.3:n.1518T>A
NR_135905.2:n.1507T>A
NR_135906.2:n.948T>A
NR_135907.2:n.1194T>A
NR_135908.2:n.888T>A
NR_135909.2:n.1404T>A
NR_135910.2:n.1754T>A
NR_135911.2:n.1874T>A
NR_135912.2:n.2433T>A
NR_135913.2:n.2120T>A