Canonical Allele Identifier: CA372291997

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584705T>C (hg19) ; chr8:g.132572457T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572457T>C , CM000670.2:g.132572457T>C	GRCh38
NC_000008.10:g.133584705T>C , CM000670.1:g.133584705T>C	GRCh37
NC_000008.9:g.133653887T>C	NCBI36
NG_033068.1:g.108159A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1250A>G MANE Select	ENSP00000484634.1:p.Glu417Gly
ENST00000250173.5:c.*114A>G	ENSP00000250173.2:n.*114A>G
ENST00000518642.5:c.*114A>G	ENSP00000428610.1:n.*114A>G
ENST00000519595.5:c.1250A>G	ENSP00000429791.1:p.Glu417Gly
ENST00000522597.1:n.519A>G
ENST00000522789.5:c.470A>G	ENSP00000428015.1:p.Glu157Gly
ENST00000618342.1:c.1250A>G	ENSP00000484802.1:p.Glu417Gly
ENST00000620350.4:c.1250A>G	ENSP00000484634.1:p.Glu417Gly
NM_012472.4:c.1250A>G	NP_036604.2:p.Glu417Gly
NR_073525.1:n.1474A>G
XM_006716538.2:c.1268A>G	XP_006716601.2:p.Glu423Gly
XM_011516950.1:c.1208A>G	XP_011515252.1:p.Glu403Gly
XM_011516952.1:c.1004A>G	XP_011515254.1:p.Glu335Gly
XM_011516953.1:c.890A>G	XP_011515255.1:p.Glu297Gly
XM_011516954.1:c.890A>G	XP_011515256.1:p.Glu297Gly
XR_428377.2:n.1502A>G
NM_001321961.1:c.1190A>G	NP_001308890.1:p.Glu397Gly
NM_001321962.1:c.1004A>G	NP_001308891.1:p.Glu335Gly
NM_001321963.1:c.890A>G	NP_001308892.1:p.Glu297Gly
NM_001321964.1:c.890A>G	NP_001308893.1:p.Glu297Gly
NM_001321965.1:c.890A>G	NP_001308894.1:p.Glu297Gly
NM_001321966.1:c.830A>G	NP_001308895.1:p.Glu277Gly
NM_012472.5:c.1250A>G	NP_036604.2:p.Glu417Gly
NR_073525.2:n.1474A>G
NR_135905.1:n.1463A>G
NR_135906.1:n.904A>G
NR_135907.1:n.1150A>G
NR_135908.1:n.844A>G
NR_135909.1:n.1268A>G
NR_135910.1:n.1575A>G
NR_135911.1:n.1654A>G
NR_135912.1:n.2213A>G
NR_135913.1:n.1900A>G
XM_006716538.3:c.1268A>G	XP_006716601.2:p.Glu423Gly
XM_011516950.2:c.1208A>G	XP_011515252.1:p.Glu403Gly
XM_017013296.1:c.1148A>G	XP_016868785.1:p.Glu383Gly
XM_017013297.1:c.890A>G	XP_016868786.1:p.Glu297Gly
XM_017013298.1:c.890A>G	XP_016868787.1:p.Glu297Gly
NM_012472.6:c.1250A>G MANE Select	NP_036604.2:p.Glu417Gly
NM_001321961.2:c.1190A>G	NP_001308890.1:p.Glu397Gly
NM_001321962.2:c.1004A>G	NP_001308891.1:p.Glu335Gly
NM_001321963.2:c.890A>G	NP_001308892.1:p.Glu297Gly
NM_001321964.2:c.890A>G	NP_001308893.1:p.Glu297Gly
NM_001321965.2:c.890A>G	NP_001308894.1:p.Glu297Gly
NM_001321966.2:c.830A>G	NP_001308895.1:p.Glu277Gly
NR_073525.3:n.1402A>G
NR_135905.2:n.1391A>G
NR_135906.2:n.832A>G
NR_135907.2:n.1078A>G
NR_135908.2:n.772A>G
NR_135909.2:n.1288A>G
NR_135910.2:n.1638A>G
NR_135911.2:n.1758A>G
NR_135912.2:n.2317A>G
NR_135913.2:n.2004A>G