Canonical Allele Identifier: CA372291943

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584681A>C (hg19) ; chr8:g.132572433A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572433A>C , CM000670.2:g.132572433A>C	GRCh38
NC_000008.10:g.133584681A>C , CM000670.1:g.133584681A>C	GRCh37
NC_000008.9:g.133653863A>C	NCBI36
NG_033068.1:g.108183T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1274T>G MANE Select	ENSP00000484634.1:p.Phe425Cys
ENST00000250173.5:c.*138T>G	ENSP00000250173.2:n.*138T>G
ENST00000518642.5:c.*138T>G	ENSP00000428610.1:n.*138T>G
ENST00000519595.5:c.1274T>G	ENSP00000429791.1:p.Phe425Cys
ENST00000522597.1:n.543T>G
ENST00000522789.5:c.494T>G	ENSP00000428015.1:p.Phe165Cys
ENST00000618342.1:c.1274T>G	ENSP00000484802.1:p.Phe425Cys
ENST00000620350.4:c.1274T>G	ENSP00000484634.1:p.Phe425Cys
NM_012472.4:c.1274T>G	NP_036604.2:p.Phe425Cys
NR_073525.1:n.1498T>G
XM_006716538.2:c.1292T>G	XP_006716601.2:p.Phe431Cys
XM_011516950.1:c.1232T>G	XP_011515252.1:p.Phe411Cys
XM_011516952.1:c.1028T>G	XP_011515254.1:p.Phe343Cys
XM_011516953.1:c.914T>G	XP_011515255.1:p.Phe305Cys
XM_011516954.1:c.914T>G	XP_011515256.1:p.Phe305Cys
XR_428377.2:n.1526T>G
NM_001321961.1:c.1214T>G	NP_001308890.1:p.Phe405Cys
NM_001321962.1:c.1028T>G	NP_001308891.1:p.Phe343Cys
NM_001321963.1:c.914T>G	NP_001308892.1:p.Phe305Cys
NM_001321964.1:c.914T>G	NP_001308893.1:p.Phe305Cys
NM_001321965.1:c.914T>G	NP_001308894.1:p.Phe305Cys
NM_001321966.1:c.854T>G	NP_001308895.1:p.Phe285Cys
NM_012472.5:c.1274T>G	NP_036604.2:p.Phe425Cys
NR_073525.2:n.1498T>G
NR_135905.1:n.1487T>G
NR_135906.1:n.928T>G
NR_135907.1:n.1174T>G
NR_135908.1:n.868T>G
NR_135909.1:n.1292T>G
NR_135910.1:n.1599T>G
NR_135911.1:n.1678T>G
NR_135912.1:n.2237T>G
NR_135913.1:n.1924T>G
XM_006716538.3:c.1292T>G	XP_006716601.2:p.Phe431Cys
XM_011516950.2:c.1232T>G	XP_011515252.1:p.Phe411Cys
XM_017013296.1:c.1172T>G	XP_016868785.1:p.Phe391Cys
XM_017013297.1:c.914T>G	XP_016868786.1:p.Phe305Cys
XM_017013298.1:c.914T>G	XP_016868787.1:p.Phe305Cys
NM_012472.6:c.1274T>G MANE Select	NP_036604.2:p.Phe425Cys
NM_001321961.2:c.1214T>G	NP_001308890.1:p.Phe405Cys
NM_001321962.2:c.1028T>G	NP_001308891.1:p.Phe343Cys
NM_001321963.2:c.914T>G	NP_001308892.1:p.Phe305Cys
NM_001321964.2:c.914T>G	NP_001308893.1:p.Phe305Cys
NM_001321965.2:c.914T>G	NP_001308894.1:p.Phe305Cys
NM_001321966.2:c.854T>G	NP_001308895.1:p.Phe285Cys
NR_073525.3:n.1426T>G
NR_135905.2:n.1415T>G
NR_135906.2:n.856T>G
NR_135907.2:n.1102T>G
NR_135908.2:n.796T>G
NR_135909.2:n.1312T>G
NR_135910.2:n.1662T>G
NR_135911.2:n.1782T>G
NR_135912.2:n.2341T>G
NR_135913.2:n.2028T>G