Canonical Allele Identifier: CA372291908

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584665G>T (hg19) ; chr8:g.132572417G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572417G>T , CM000670.2:g.132572417G>T	GRCh38
NC_000008.10:g.133584665G>T , CM000670.1:g.133584665G>T	GRCh37
NC_000008.9:g.133653847G>T	NCBI36
NG_033068.1:g.108199C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1290C>A MANE Select	ENSP00000484634.1:p.Asn430Lys
ENST00000250173.5:c.*154C>A	ENSP00000250173.2:n.*154C>A
ENST00000518642.5:c.*154C>A	ENSP00000428610.1:n.*154C>A
ENST00000519595.5:c.1290C>A	ENSP00000429791.1:p.Asn430Lys
ENST00000522789.5:c.510C>A	ENSP00000428015.1:p.Asn170Lys
ENST00000618342.1:c.1290C>A	ENSP00000484802.1:p.Asn430Lys
ENST00000620350.4:c.1290C>A	ENSP00000484634.1:p.Asn430Lys
NM_012472.4:c.1290C>A	NP_036604.2:p.Asn430Lys
NR_073525.1:n.1514C>A
XM_006716538.2:c.1308C>A	XP_006716601.2:p.Asn436Lys
XM_011516950.1:c.1248C>A	XP_011515252.1:p.Asn416Lys
XM_011516952.1:c.1044C>A	XP_011515254.1:p.Asn348Lys
XM_011516953.1:c.930C>A	XP_011515255.1:p.Asn310Lys
XM_011516954.1:c.930C>A	XP_011515256.1:p.Asn310Lys
XR_428377.2:n.1542C>A
NM_001321961.1:c.1230C>A	NP_001308890.1:p.Asn410Lys
NM_001321962.1:c.1044C>A	NP_001308891.1:p.Asn348Lys
NM_001321963.1:c.930C>A	NP_001308892.1:p.Asn310Lys
NM_001321964.1:c.930C>A	NP_001308893.1:p.Asn310Lys
NM_001321965.1:c.930C>A	NP_001308894.1:p.Asn310Lys
NM_001321966.1:c.870C>A	NP_001308895.1:p.Asn290Lys
NM_012472.5:c.1290C>A	NP_036604.2:p.Asn430Lys
NR_073525.2:n.1514C>A
NR_135905.1:n.1503C>A
NR_135906.1:n.944C>A
NR_135907.1:n.1190C>A
NR_135908.1:n.884C>A
NR_135909.1:n.1308C>A
NR_135910.1:n.1615C>A
NR_135911.1:n.1694C>A
NR_135912.1:n.2253C>A
NR_135913.1:n.1940C>A
XM_006716538.3:c.1308C>A	XP_006716601.2:p.Asn436Lys
XM_011516950.2:c.1248C>A	XP_011515252.1:p.Asn416Lys
XM_017013296.1:c.1188C>A	XP_016868785.1:p.Asn396Lys
XM_017013297.1:c.930C>A	XP_016868786.1:p.Asn310Lys
XM_017013298.1:c.930C>A	XP_016868787.1:p.Asn310Lys
NM_012472.6:c.1290C>A MANE Select	NP_036604.2:p.Asn430Lys
NM_001321961.2:c.1230C>A	NP_001308890.1:p.Asn410Lys
NM_001321962.2:c.1044C>A	NP_001308891.1:p.Asn348Lys
NM_001321963.2:c.930C>A	NP_001308892.1:p.Asn310Lys
NM_001321964.2:c.930C>A	NP_001308893.1:p.Asn310Lys
NM_001321965.2:c.930C>A	NP_001308894.1:p.Asn310Lys
NM_001321966.2:c.870C>A	NP_001308895.1:p.Asn290Lys
NR_073525.3:n.1442C>A
NR_135905.2:n.1431C>A
NR_135906.2:n.872C>A
NR_135907.2:n.1118C>A
NR_135908.2:n.812C>A
NR_135909.2:n.1328C>A
NR_135910.2:n.1678C>A
NR_135911.2:n.1798C>A
NR_135912.2:n.2357C>A
NR_135913.2:n.2044C>A