Canonical Allele Identifier: CA4881093

Gene: DNAAF11

Linked Data

• dbSNP Id: rs760195383
• ExAC: 8:133584714 T / A
• gnomAD v2: 8-133584714-T-A
• MyVariant Identifiers: chr8:g.133584714T>A (hg19) ; chr8:g.132572466T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572466T>A , CM000670.2:g.132572466T>A	GRCh38
NC_000008.10:g.133584714T>A , CM000670.1:g.133584714T>A	GRCh37
NC_000008.9:g.133653896T>A	NCBI36
NG_033068.1:g.108150A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000620350.5:c.1241A>T MANE Select	ENSP00000484634.1:p.Glu414Val
ENST00000250173.5:c.*105A>T	ENSP00000250173.2:n.*105A>T
ENST00000518642.5:c.*105A>T	ENSP00000428610.1:n.*105A>T
ENST00000519595.5:c.1241A>T	ENSP00000429791.1:p.Glu414Val
ENST00000522597.1:n.510A>T
ENST00000522789.5:c.461A>T	ENSP00000428015.1:p.Glu154Val
ENST00000618342.1:c.1241A>T	ENSP00000484802.1:p.Glu414Val
ENST00000620350.4:c.1241A>T	ENSP00000484634.1:p.Glu414Val
NM_012472.4:c.1241A>T	NP_036604.2:p.Glu414Val
NR_073525.1:n.1465A>T
XM_006716538.2:c.1259A>T	XP_006716601.2:p.Glu420Val
XM_011516950.1:c.1199A>T	XP_011515252.1:p.Glu400Val
XM_011516952.1:c.995A>T	XP_011515254.1:p.Glu332Val
XM_011516953.1:c.881A>T	XP_011515255.1:p.Glu294Val
XM_011516954.1:c.881A>T	XP_011515256.1:p.Glu294Val
XR_428377.2:n.1493A>T
NM_001321961.1:c.1181A>T	NP_001308890.1:p.Glu394Val
NM_001321962.1:c.995A>T	NP_001308891.1:p.Glu332Val
NM_001321963.1:c.881A>T	NP_001308892.1:p.Glu294Val
NM_001321964.1:c.881A>T	NP_001308893.1:p.Glu294Val
NM_001321965.1:c.881A>T	NP_001308894.1:p.Glu294Val
NM_001321966.1:c.821A>T	NP_001308895.1:p.Glu274Val
NM_012472.5:c.1241A>T	NP_036604.2:p.Glu414Val
NR_073525.2:n.1465A>T
NR_135905.1:n.1454A>T
NR_135906.1:n.895A>T
NR_135907.1:n.1141A>T
NR_135908.1:n.835A>T
NR_135909.1:n.1259A>T
NR_135910.1:n.1566A>T
NR_135911.1:n.1645A>T
NR_135912.1:n.2204A>T
NR_135913.1:n.1891A>T
XM_006716538.3:c.1259A>T	XP_006716601.2:p.Glu420Val
XM_011516950.2:c.1199A>T	XP_011515252.1:p.Glu400Val
XM_017013296.1:c.1139A>T	XP_016868785.1:p.Glu380Val
XM_017013297.1:c.881A>T	XP_016868786.1:p.Glu294Val
XM_017013298.1:c.881A>T	XP_016868787.1:p.Glu294Val
NM_012472.6:c.1241A>T MANE Select	NP_036604.2:p.Glu414Val
NM_001321961.2:c.1181A>T	NP_001308890.1:p.Glu394Val
NM_001321962.2:c.995A>T	NP_001308891.1:p.Glu332Val
NM_001321963.2:c.881A>T	NP_001308892.1:p.Glu294Val
NM_001321964.2:c.881A>T	NP_001308893.1:p.Glu294Val
NM_001321965.2:c.881A>T	NP_001308894.1:p.Glu294Val
NM_001321966.2:c.821A>T	NP_001308895.1:p.Glu274Val
NR_073525.3:n.1393A>T
NR_135905.2:n.1382A>T
NR_135906.2:n.823A>T
NR_135907.2:n.1069A>T
NR_135908.2:n.763A>T
NR_135909.2:n.1279A>T
NR_135910.2:n.1629A>T
NR_135911.2:n.1749A>T
NR_135912.2:n.2308A>T
NR_135913.2:n.1995A>T