Canonical Allele Identifier: CA4881082

Gene: DNAAF11

Linked Data

• dbSNP Id: rs369985188
• ExAC: 8:133584631 G / T
• gnomAD v2: 8-133584631-G-T
• gnomAD v3: 8-132572383-G-T
• gnomAD v4: 8-132572383-G-T
• MyVariant Identifiers: chr8:g.133584631G>T (hg19) ; chr8:g.132572383G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572383G>T , CM000670.2:g.132572383G>T	GRCh38
NC_000008.10:g.133584631G>T , CM000670.1:g.133584631G>T	GRCh37
NC_000008.9:g.133653813G>T	NCBI36
NG_033068.1:g.108233C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1324C>A MANE Select	ENSP00000484634.1:p.Arg442=
ENST00000250173.5:c.*188C>A	ENSP00000250173.2:n.*188C>A
ENST00000518642.5:c.*188C>A	ENSP00000428610.1:n.*188C>A
ENST00000519595.5:c.1324C>A	ENSP00000429791.1:p.Arg442=
ENST00000522789.5:c.544C>A	ENSP00000428015.1:p.Arg182=
ENST00000618342.1:c.1324C>A	ENSP00000484802.1:p.Arg442=
ENST00000620350.4:c.1324C>A	ENSP00000484634.1:p.Arg442=
NM_012472.4:c.1324C>A	NP_036604.2:p.Arg442=
NR_073525.1:n.1548C>A
XM_006716538.2:c.1342C>A	XP_006716601.2:p.Arg448=
XM_011516950.1:c.1282C>A	XP_011515252.1:p.Arg428=
XM_011516952.1:c.1078C>A	XP_011515254.1:p.Arg360=
XM_011516953.1:c.964C>A	XP_011515255.1:p.Arg322=
XM_011516954.1:c.964C>A	XP_011515256.1:p.Arg322=
XR_428377.2:n.1576C>A
NM_001321961.1:c.1264C>A	NP_001308890.1:p.Arg422=
NM_001321962.1:c.1078C>A	NP_001308891.1:p.Arg360=
NM_001321963.1:c.964C>A	NP_001308892.1:p.Arg322=
NM_001321964.1:c.964C>A	NP_001308893.1:p.Arg322=
NM_001321965.1:c.964C>A	NP_001308894.1:p.Arg322=
NM_001321966.1:c.904C>A	NP_001308895.1:p.Arg302=
NM_012472.5:c.1324C>A	NP_036604.2:p.Arg442=
NR_073525.2:n.1548C>A
NR_135905.1:n.1537C>A
NR_135906.1:n.978C>A
NR_135907.1:n.1224C>A
NR_135908.1:n.918C>A
NR_135909.1:n.1342C>A
NR_135910.1:n.1649C>A
NR_135911.1:n.1728C>A
NR_135912.1:n.2287C>A
NR_135913.1:n.1974C>A
XM_006716538.3:c.1342C>A	XP_006716601.2:p.Arg448=
XM_011516950.2:c.1282C>A	XP_011515252.1:p.Arg428=
XM_017013296.1:c.1222C>A	XP_016868785.1:p.Arg408=
XM_017013297.1:c.964C>A	XP_016868786.1:p.Arg322=
XM_017013298.1:c.964C>A	XP_016868787.1:p.Arg322=
NM_012472.6:c.1324C>A MANE Select	NP_036604.2:p.Arg442=
NM_001321961.2:c.1264C>A	NP_001308890.1:p.Arg422=
NM_001321962.2:c.1078C>A	NP_001308891.1:p.Arg360=
NM_001321963.2:c.964C>A	NP_001308892.1:p.Arg322=
NM_001321964.2:c.964C>A	NP_001308893.1:p.Arg322=
NM_001321965.2:c.964C>A	NP_001308894.1:p.Arg322=
NM_001321966.2:c.904C>A	NP_001308895.1:p.Arg302=
NR_073525.3:n.1476C>A
NR_135905.2:n.1465C>A
NR_135906.2:n.906C>A
NR_135907.2:n.1152C>A
NR_135908.2:n.846C>A
NR_135909.2:n.1362C>A
NR_135910.2:n.1712C>A
NR_135911.2:n.1832C>A
NR_135912.2:n.2391C>A
NR_135913.2:n.2078C>A