Canonical Allele Identifier: CA372292047

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584725G>T (hg19) ; chr8:g.132572477G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572477G>T , CM000670.2:g.132572477G>T	GRCh38
NC_000008.10:g.133584725G>T , CM000670.1:g.133584725G>T	GRCh37
NC_000008.9:g.133653907G>T	NCBI36
NG_033068.1:g.108139C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1230C>A MANE Select	ENSP00000484634.1:p.Ser410Arg
ENST00000250173.5:c.*94C>A	ENSP00000250173.2:n.*94C>A
ENST00000518642.5:c.*94C>A	ENSP00000428610.1:n.*94C>A
ENST00000519595.5:c.1230C>A	ENSP00000429791.1:p.Ser410Arg
ENST00000522597.1:n.499C>A
ENST00000522789.5:c.450C>A	ENSP00000428015.1:p.Ser150Arg
ENST00000618342.1:c.1230C>A	ENSP00000484802.1:p.Ser410Arg
ENST00000620350.4:c.1230C>A	ENSP00000484634.1:p.Ser410Arg
NM_012472.4:c.1230C>A	NP_036604.2:p.Ser410Arg
NR_073525.1:n.1454C>A
XM_006716538.2:c.1248C>A	XP_006716601.2:p.Ser416Arg
XM_011516950.1:c.1188C>A	XP_011515252.1:p.Ser396Arg
XM_011516952.1:c.984C>A	XP_011515254.1:p.Ser328Arg
XM_011516953.1:c.870C>A	XP_011515255.1:p.Ser290Arg
XM_011516954.1:c.870C>A	XP_011515256.1:p.Ser290Arg
XR_428377.2:n.1482C>A
NM_001321961.1:c.1170C>A	NP_001308890.1:p.Ser390Arg
NM_001321962.1:c.984C>A	NP_001308891.1:p.Ser328Arg
NM_001321963.1:c.870C>A	NP_001308892.1:p.Ser290Arg
NM_001321964.1:c.870C>A	NP_001308893.1:p.Ser290Arg
NM_001321965.1:c.870C>A	NP_001308894.1:p.Ser290Arg
NM_001321966.1:c.810C>A	NP_001308895.1:p.Ser270Arg
NM_012472.5:c.1230C>A	NP_036604.2:p.Ser410Arg
NR_073525.2:n.1454C>A
NR_135905.1:n.1443C>A
NR_135906.1:n.884C>A
NR_135907.1:n.1130C>A
NR_135908.1:n.824C>A
NR_135909.1:n.1248C>A
NR_135910.1:n.1555C>A
NR_135911.1:n.1634C>A
NR_135912.1:n.2193C>A
NR_135913.1:n.1880C>A
XM_006716538.3:c.1248C>A	XP_006716601.2:p.Ser416Arg
XM_011516950.2:c.1188C>A	XP_011515252.1:p.Ser396Arg
XM_017013296.1:c.1128C>A	XP_016868785.1:p.Ser376Arg
XM_017013297.1:c.870C>A	XP_016868786.1:p.Ser290Arg
XM_017013298.1:c.870C>A	XP_016868787.1:p.Ser290Arg
NM_012472.6:c.1230C>A MANE Select	NP_036604.2:p.Ser410Arg
NM_001321961.2:c.1170C>A	NP_001308890.1:p.Ser390Arg
NM_001321962.2:c.984C>A	NP_001308891.1:p.Ser328Arg
NM_001321963.2:c.870C>A	NP_001308892.1:p.Ser290Arg
NM_001321964.2:c.870C>A	NP_001308893.1:p.Ser290Arg
NM_001321965.2:c.870C>A	NP_001308894.1:p.Ser290Arg
NM_001321966.2:c.810C>A	NP_001308895.1:p.Ser270Arg
NR_073525.3:n.1382C>A
NR_135905.2:n.1371C>A
NR_135906.2:n.812C>A
NR_135907.2:n.1058C>A
NR_135908.2:n.752C>A
NR_135909.2:n.1268C>A
NR_135910.2:n.1618C>A
NR_135911.2:n.1738C>A
NR_135912.2:n.2297C>A
NR_135913.2:n.1984C>A