Canonical Allele Identifier: CA372291868

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584648T>C (hg19) ; chr8:g.132572400T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572400T>C , CM000670.2:g.132572400T>C	GRCh38
NC_000008.10:g.133584648T>C , CM000670.1:g.133584648T>C	GRCh37
NC_000008.9:g.133653830T>C	NCBI36
NG_033068.1:g.108216A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1307A>G MANE Select	ENSP00000484634.1:p.Lys436Arg
ENST00000250173.5:c.*171A>G	ENSP00000250173.2:n.*171A>G
ENST00000518642.5:c.*171A>G	ENSP00000428610.1:n.*171A>G
ENST00000519595.5:c.1307A>G	ENSP00000429791.1:p.Lys436Arg
ENST00000522789.5:c.527A>G	ENSP00000428015.1:p.Lys176Arg
ENST00000618342.1:c.1307A>G	ENSP00000484802.1:p.Lys436Arg
ENST00000620350.4:c.1307A>G	ENSP00000484634.1:p.Lys436Arg
NM_012472.4:c.1307A>G	NP_036604.2:p.Lys436Arg
NR_073525.1:n.1531A>G
XM_006716538.2:c.1325A>G	XP_006716601.2:p.Lys442Arg
XM_011516950.1:c.1265A>G	XP_011515252.1:p.Lys422Arg
XM_011516952.1:c.1061A>G	XP_011515254.1:p.Lys354Arg
XM_011516953.1:c.947A>G	XP_011515255.1:p.Lys316Arg
XM_011516954.1:c.947A>G	XP_011515256.1:p.Lys316Arg
XR_428377.2:n.1559A>G
NM_001321961.1:c.1247A>G	NP_001308890.1:p.Lys416Arg
NM_001321962.1:c.1061A>G	NP_001308891.1:p.Lys354Arg
NM_001321963.1:c.947A>G	NP_001308892.1:p.Lys316Arg
NM_001321964.1:c.947A>G	NP_001308893.1:p.Lys316Arg
NM_001321965.1:c.947A>G	NP_001308894.1:p.Lys316Arg
NM_001321966.1:c.887A>G	NP_001308895.1:p.Lys296Arg
NM_012472.5:c.1307A>G	NP_036604.2:p.Lys436Arg
NR_073525.2:n.1531A>G
NR_135905.1:n.1520A>G
NR_135906.1:n.961A>G
NR_135907.1:n.1207A>G
NR_135908.1:n.901A>G
NR_135909.1:n.1325A>G
NR_135910.1:n.1632A>G
NR_135911.1:n.1711A>G
NR_135912.1:n.2270A>G
NR_135913.1:n.1957A>G
XM_006716538.3:c.1325A>G	XP_006716601.2:p.Lys442Arg
XM_011516950.2:c.1265A>G	XP_011515252.1:p.Lys422Arg
XM_017013296.1:c.1205A>G	XP_016868785.1:p.Lys402Arg
XM_017013297.1:c.947A>G	XP_016868786.1:p.Lys316Arg
XM_017013298.1:c.947A>G	XP_016868787.1:p.Lys316Arg
NM_012472.6:c.1307A>G MANE Select	NP_036604.2:p.Lys436Arg
NM_001321961.2:c.1247A>G	NP_001308890.1:p.Lys416Arg
NM_001321962.2:c.1061A>G	NP_001308891.1:p.Lys354Arg
NM_001321963.2:c.947A>G	NP_001308892.1:p.Lys316Arg
NM_001321964.2:c.947A>G	NP_001308893.1:p.Lys316Arg
NM_001321965.2:c.947A>G	NP_001308894.1:p.Lys316Arg
NM_001321966.2:c.887A>G	NP_001308895.1:p.Lys296Arg
NR_073525.3:n.1459A>G
NR_135905.2:n.1448A>G
NR_135906.2:n.889A>G
NR_135907.2:n.1135A>G
NR_135908.2:n.829A>G
NR_135909.2:n.1345A>G
NR_135910.2:n.1695A>G
NR_135911.2:n.1815A>G
NR_135912.2:n.2374A>G
NR_135913.2:n.2061A>G