Canonical Allele Identifier: CA372291922

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584672A>T (hg19) ; chr8:g.132572424A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572424A>T , CM000670.2:g.132572424A>T	GRCh38
NC_000008.10:g.133584672A>T , CM000670.1:g.133584672A>T	GRCh37
NC_000008.9:g.133653854A>T	NCBI36
NG_033068.1:g.108192T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1283T>A MANE Select	ENSP00000484634.1:p.Val428Glu
ENST00000250173.5:c.*147T>A	ENSP00000250173.2:n.*147T>A
ENST00000518642.5:c.*147T>A	ENSP00000428610.1:n.*147T>A
ENST00000519595.5:c.1283T>A	ENSP00000429791.1:p.Val428Glu
ENST00000522789.5:c.503T>A	ENSP00000428015.1:p.Val168Glu
ENST00000618342.1:c.1283T>A	ENSP00000484802.1:p.Val428Glu
ENST00000620350.4:c.1283T>A	ENSP00000484634.1:p.Val428Glu
NM_012472.4:c.1283T>A	NP_036604.2:p.Val428Glu
NR_073525.1:n.1507T>A
XM_006716538.2:c.1301T>A	XP_006716601.2:p.Val434Glu
XM_011516950.1:c.1241T>A	XP_011515252.1:p.Val414Glu
XM_011516952.1:c.1037T>A	XP_011515254.1:p.Val346Glu
XM_011516953.1:c.923T>A	XP_011515255.1:p.Val308Glu
XM_011516954.1:c.923T>A	XP_011515256.1:p.Val308Glu
XR_428377.2:n.1535T>A
NM_001321961.1:c.1223T>A	NP_001308890.1:p.Val408Glu
NM_001321962.1:c.1037T>A	NP_001308891.1:p.Val346Glu
NM_001321963.1:c.923T>A	NP_001308892.1:p.Val308Glu
NM_001321964.1:c.923T>A	NP_001308893.1:p.Val308Glu
NM_001321965.1:c.923T>A	NP_001308894.1:p.Val308Glu
NM_001321966.1:c.863T>A	NP_001308895.1:p.Val288Glu
NM_012472.5:c.1283T>A	NP_036604.2:p.Val428Glu
NR_073525.2:n.1507T>A
NR_135905.1:n.1496T>A
NR_135906.1:n.937T>A
NR_135907.1:n.1183T>A
NR_135908.1:n.877T>A
NR_135909.1:n.1301T>A
NR_135910.1:n.1608T>A
NR_135911.1:n.1687T>A
NR_135912.1:n.2246T>A
NR_135913.1:n.1933T>A
XM_006716538.3:c.1301T>A	XP_006716601.2:p.Val434Glu
XM_011516950.2:c.1241T>A	XP_011515252.1:p.Val414Glu
XM_017013296.1:c.1181T>A	XP_016868785.1:p.Val394Glu
XM_017013297.1:c.923T>A	XP_016868786.1:p.Val308Glu
XM_017013298.1:c.923T>A	XP_016868787.1:p.Val308Glu
NM_012472.6:c.1283T>A MANE Select	NP_036604.2:p.Val428Glu
NM_001321961.2:c.1223T>A	NP_001308890.1:p.Val408Glu
NM_001321962.2:c.1037T>A	NP_001308891.1:p.Val346Glu
NM_001321963.2:c.923T>A	NP_001308892.1:p.Val308Glu
NM_001321964.2:c.923T>A	NP_001308893.1:p.Val308Glu
NM_001321965.2:c.923T>A	NP_001308894.1:p.Val308Glu
NM_001321966.2:c.863T>A	NP_001308895.1:p.Val288Glu
NR_073525.3:n.1435T>A
NR_135905.2:n.1424T>A
NR_135906.2:n.865T>A
NR_135907.2:n.1111T>A
NR_135908.2:n.805T>A
NR_135909.2:n.1321T>A
NR_135910.2:n.1671T>A
NR_135911.2:n.1791T>A
NR_135912.2:n.2350T>A
NR_135913.2:n.2037T>A