Canonical Allele Identifier: CA372291801

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584613T>G (hg19) ; chr8:g.132572365T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572365T>G , CM000670.2:g.132572365T>G	GRCh38
NC_000008.10:g.133584613T>G , CM000670.1:g.133584613T>G	GRCh37
NC_000008.9:g.133653795T>G	NCBI36
NG_033068.1:g.108251A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000620350.5:c.1342A>C MANE Select	ENSP00000484634.1:p.Ile448Leu
ENST00000250173.5:c.*206A>C	ENSP00000250173.2:n.*206A>C
ENST00000518642.5:c.*206A>C	ENSP00000428610.1:n.*206A>C
ENST00000519595.5:c.1342A>C	ENSP00000429791.1:p.Ile448Leu
ENST00000522789.5:c.562A>C	ENSP00000428015.1:p.Ile188Leu
ENST00000618342.1:c.1342A>C	ENSP00000484802.1:p.Ile448Leu
ENST00000620350.4:c.1342A>C	ENSP00000484634.1:p.Ile448Leu
NM_012472.4:c.1342A>C	NP_036604.2:p.Ile448Leu
NR_073525.1:n.1566A>C
XM_006716538.2:c.1360A>C	XP_006716601.2:p.Ile454Leu
XM_011516950.1:c.1300A>C	XP_011515252.1:p.Ile434Leu
XM_011516952.1:c.1096A>C	XP_011515254.1:p.Ile366Leu
XM_011516953.1:c.982A>C	XP_011515255.1:p.Ile328Leu
XM_011516954.1:c.982A>C	XP_011515256.1:p.Ile328Leu
XR_428377.2:n.1594A>C
NM_001321961.1:c.1282A>C	NP_001308890.1:p.Ile428Leu
NM_001321962.1:c.1096A>C	NP_001308891.1:p.Ile366Leu
NM_001321963.1:c.982A>C	NP_001308892.1:p.Ile328Leu
NM_001321964.1:c.982A>C	NP_001308893.1:p.Ile328Leu
NM_001321965.1:c.982A>C	NP_001308894.1:p.Ile328Leu
NM_001321966.1:c.922A>C	NP_001308895.1:p.Ile308Leu
NM_012472.5:c.1342A>C	NP_036604.2:p.Ile448Leu
NR_073525.2:n.1566A>C
NR_135905.1:n.1555A>C
NR_135906.1:n.996A>C
NR_135907.1:n.1242A>C
NR_135908.1:n.936A>C
NR_135909.1:n.1360A>C
NR_135910.1:n.1667A>C
NR_135911.1:n.1746A>C
NR_135912.1:n.2305A>C
NR_135913.1:n.1992A>C
XM_006716538.3:c.1360A>C	XP_006716601.2:p.Ile454Leu
XM_011516950.2:c.1300A>C	XP_011515252.1:p.Ile434Leu
XM_017013296.1:c.1240A>C	XP_016868785.1:p.Ile414Leu
XM_017013297.1:c.982A>C	XP_016868786.1:p.Ile328Leu
XM_017013298.1:c.982A>C	XP_016868787.1:p.Ile328Leu
NM_012472.6:c.1342A>C MANE Select	NP_036604.2:p.Ile448Leu
NM_001321961.2:c.1282A>C	NP_001308890.1:p.Ile428Leu
NM_001321962.2:c.1096A>C	NP_001308891.1:p.Ile366Leu
NM_001321963.2:c.982A>C	NP_001308892.1:p.Ile328Leu
NM_001321964.2:c.982A>C	NP_001308893.1:p.Ile328Leu
NM_001321965.2:c.982A>C	NP_001308894.1:p.Ile328Leu
NM_001321966.2:c.922A>C	NP_001308895.1:p.Ile308Leu
NR_073525.3:n.1494A>C
NR_135905.2:n.1483A>C
NR_135906.2:n.924A>C
NR_135907.2:n.1170A>C
NR_135908.2:n.864A>C
NR_135909.2:n.1380A>C
NR_135910.2:n.1730A>C
NR_135911.2:n.1850A>C
NR_135912.2:n.2409A>C
NR_135913.2:n.2096A>C