Canonical Allele Identifier: CA4881083

Gene: DNAAF11

Linked Data

• dbSNP Id: rs771078079
• ExAC: 8:133584633 C / T
• gnomAD v2: 8-133584633-C-T
• gnomAD v4: 8-132572385-C-T
• MyVariant Identifiers: chr8:g.133584633C>T (hg19) ; chr8:g.132572385C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572385C>T , CM000670.2:g.132572385C>T	GRCh38
NC_000008.10:g.133584633C>T , CM000670.1:g.133584633C>T	GRCh37
NC_000008.9:g.133653815C>T	NCBI36
NG_033068.1:g.108231G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1322G>A MANE Select	ENSP00000484634.1:p.Arg441Lys
ENST00000250173.5:c.*186G>A	ENSP00000250173.2:n.*186G>A
ENST00000518642.5:c.*186G>A	ENSP00000428610.1:n.*186G>A
ENST00000519595.5:c.1322G>A	ENSP00000429791.1:p.Arg441Lys
ENST00000522789.5:c.542G>A	ENSP00000428015.1:p.Arg181Lys
ENST00000618342.1:c.1322G>A	ENSP00000484802.1:p.Arg441Lys
ENST00000620350.4:c.1322G>A	ENSP00000484634.1:p.Arg441Lys
NM_012472.4:c.1322G>A	NP_036604.2:p.Arg441Lys
NR_073525.1:n.1546G>A
XM_006716538.2:c.1340G>A	XP_006716601.2:p.Arg447Lys
XM_011516950.1:c.1280G>A	XP_011515252.1:p.Arg427Lys
XM_011516952.1:c.1076G>A	XP_011515254.1:p.Arg359Lys
XM_011516953.1:c.962G>A	XP_011515255.1:p.Arg321Lys
XM_011516954.1:c.962G>A	XP_011515256.1:p.Arg321Lys
XR_428377.2:n.1574G>A
NM_001321961.1:c.1262G>A	NP_001308890.1:p.Arg421Lys
NM_001321962.1:c.1076G>A	NP_001308891.1:p.Arg359Lys
NM_001321963.1:c.962G>A	NP_001308892.1:p.Arg321Lys
NM_001321964.1:c.962G>A	NP_001308893.1:p.Arg321Lys
NM_001321965.1:c.962G>A	NP_001308894.1:p.Arg321Lys
NM_001321966.1:c.902G>A	NP_001308895.1:p.Arg301Lys
NM_012472.5:c.1322G>A	NP_036604.2:p.Arg441Lys
NR_073525.2:n.1546G>A
NR_135905.1:n.1535G>A
NR_135906.1:n.976G>A
NR_135907.1:n.1222G>A
NR_135908.1:n.916G>A
NR_135909.1:n.1340G>A
NR_135910.1:n.1647G>A
NR_135911.1:n.1726G>A
NR_135912.1:n.2285G>A
NR_135913.1:n.1972G>A
XM_006716538.3:c.1340G>A	XP_006716601.2:p.Arg447Lys
XM_011516950.2:c.1280G>A	XP_011515252.1:p.Arg427Lys
XM_017013296.1:c.1220G>A	XP_016868785.1:p.Arg407Lys
XM_017013297.1:c.962G>A	XP_016868786.1:p.Arg321Lys
XM_017013298.1:c.962G>A	XP_016868787.1:p.Arg321Lys
NM_012472.6:c.1322G>A MANE Select	NP_036604.2:p.Arg441Lys
NM_001321961.2:c.1262G>A	NP_001308890.1:p.Arg421Lys
NM_001321962.2:c.1076G>A	NP_001308891.1:p.Arg359Lys
NM_001321963.2:c.962G>A	NP_001308892.1:p.Arg321Lys
NM_001321964.2:c.962G>A	NP_001308893.1:p.Arg321Lys
NM_001321965.2:c.962G>A	NP_001308894.1:p.Arg321Lys
NM_001321966.2:c.902G>A	NP_001308895.1:p.Arg301Lys
NR_073525.3:n.1474G>A
NR_135905.2:n.1463G>A
NR_135906.2:n.904G>A
NR_135907.2:n.1150G>A
NR_135908.2:n.844G>A
NR_135909.2:n.1360G>A
NR_135910.2:n.1710G>A
NR_135911.2:n.1830G>A
NR_135912.2:n.2389G>A
NR_135913.2:n.2076G>A