Canonical Allele Identifier: CA372291999

Gene: DNAAF11

Linked Data

• gnomAD v4: 8-132572457-T-A
• MyVariant Identifiers: chr8:g.133584705T>A (hg19) ; chr8:g.132572457T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1250A>T MANE Select	ENSP00000484634.1:p.Glu417Val
ENST00000250173.5:c.*114A>T	ENSP00000250173.2:n.*114A>T
ENST00000518642.5:c.*114A>T	ENSP00000428610.1:n.*114A>T
ENST00000519595.5:c.1250A>T	ENSP00000429791.1:p.Glu417Val
ENST00000522597.1:n.519A>T
ENST00000522789.5:c.470A>T	ENSP00000428015.1:p.Glu157Val
ENST00000618342.1:c.1250A>T	ENSP00000484802.1:p.Glu417Val
ENST00000620350.4:c.1250A>T	ENSP00000484634.1:p.Glu417Val
NM_012472.4:c.1250A>T	NP_036604.2:p.Glu417Val
NR_073525.1:n.1474A>T
XM_006716538.2:c.1268A>T	XP_006716601.2:p.Glu423Val
XM_011516950.1:c.1208A>T	XP_011515252.1:p.Glu403Val
XM_011516952.1:c.1004A>T	XP_011515254.1:p.Glu335Val
XM_011516953.1:c.890A>T	XP_011515255.1:p.Glu297Val
XM_011516954.1:c.890A>T	XP_011515256.1:p.Glu297Val
XR_428377.2:n.1502A>T
NM_001321961.1:c.1190A>T	NP_001308890.1:p.Glu397Val
NM_001321962.1:c.1004A>T	NP_001308891.1:p.Glu335Val
NM_001321963.1:c.890A>T	NP_001308892.1:p.Glu297Val
NM_001321964.1:c.890A>T	NP_001308893.1:p.Glu297Val
NM_001321965.1:c.890A>T	NP_001308894.1:p.Glu297Val
NM_001321966.1:c.830A>T	NP_001308895.1:p.Glu277Val
NM_012472.5:c.1250A>T	NP_036604.2:p.Glu417Val
NR_073525.2:n.1474A>T
NR_135905.1:n.1463A>T
NR_135906.1:n.904A>T
NR_135907.1:n.1150A>T
NR_135908.1:n.844A>T
NR_135909.1:n.1268A>T
NR_135910.1:n.1575A>T
NR_135911.1:n.1654A>T
NR_135912.1:n.2213A>T
NR_135913.1:n.1900A>T
XM_006716538.3:c.1268A>T	XP_006716601.2:p.Glu423Val
XM_011516950.2:c.1208A>T	XP_011515252.1:p.Glu403Val
XM_017013296.1:c.1148A>T	XP_016868785.1:p.Glu383Val
XM_017013297.1:c.890A>T	XP_016868786.1:p.Glu297Val
XM_017013298.1:c.890A>T	XP_016868787.1:p.Glu297Val
NM_012472.6:c.1250A>T MANE Select	NP_036604.2:p.Glu417Val
NM_001321961.2:c.1190A>T	NP_001308890.1:p.Glu397Val
NM_001321962.2:c.1004A>T	NP_001308891.1:p.Glu335Val
NM_001321963.2:c.890A>T	NP_001308892.1:p.Glu297Val
NM_001321964.2:c.890A>T	NP_001308893.1:p.Glu297Val
NM_001321965.2:c.890A>T	NP_001308894.1:p.Glu297Val
NM_001321966.2:c.830A>T	NP_001308895.1:p.Glu277Val
NR_073525.3:n.1402A>T
NR_135905.2:n.1391A>T
NR_135906.2:n.832A>T
NR_135907.2:n.1078A>T
NR_135908.2:n.772A>T
NR_135909.2:n.1288A>T
NR_135910.2:n.1638A>T
NR_135911.2:n.1758A>T
NR_135912.2:n.2317A>T
NR_135913.2:n.2004A>T