Canonical Allele Identifier: CA463074115

Gene: DNAAF11

Linked Data

• gnomAD v4: 8-132572414-T-A
• MyVariant Identifiers: chr8:g.133584662T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572414T>A , CM000670.2:g.132572414T>A	GRCh38
NC_000008.10:g.133584662T>A , CM000670.1:g.133584662T>A	GRCh37
NC_000008.9:g.133653844T>A	NCBI36
NG_033068.1:g.108202A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1293A>T MANE Select	ENSP00000484634.1:p.Ile431=
ENST00000250173.5:c.*157A>T	ENSP00000250173.2:n.*157A>T
ENST00000518642.5:c.*157A>T	ENSP00000428610.1:n.*157A>T
ENST00000519595.5:c.1293A>T	ENSP00000429791.1:p.Ile431=
ENST00000522789.5:c.513A>T	ENSP00000428015.1:p.Ile171=
ENST00000618342.1:c.1293A>T	ENSP00000484802.1:p.Ile431=
ENST00000620350.4:c.1293A>T	ENSP00000484634.1:p.Ile431=
NM_012472.4:c.1293A>T	NP_036604.2:p.Ile431=
NR_073525.1:n.1517A>T
XM_006716538.2:c.1311A>T	XP_006716601.2:p.Ile437=
XM_011516950.1:c.1251A>T	XP_011515252.1:p.Ile417=
XM_011516952.1:c.1047A>T	XP_011515254.1:p.Ile349=
XM_011516953.1:c.933A>T	XP_011515255.1:p.Ile311=
XM_011516954.1:c.933A>T	XP_011515256.1:p.Ile311=
XR_428377.2:n.1545A>T
NM_001321961.1:c.1233A>T	NP_001308890.1:p.Ile411=
NM_001321962.1:c.1047A>T	NP_001308891.1:p.Ile349=
NM_001321963.1:c.933A>T	NP_001308892.1:p.Ile311=
NM_001321964.1:c.933A>T	NP_001308893.1:p.Ile311=
NM_001321965.1:c.933A>T	NP_001308894.1:p.Ile311=
NM_001321966.1:c.873A>T	NP_001308895.1:p.Ile291=
NM_012472.5:c.1293A>T	NP_036604.2:p.Ile431=
NR_073525.2:n.1517A>T
NR_135905.1:n.1506A>T
NR_135906.1:n.947A>T
NR_135907.1:n.1193A>T
NR_135908.1:n.887A>T
NR_135909.1:n.1311A>T
NR_135910.1:n.1618A>T
NR_135911.1:n.1697A>T
NR_135912.1:n.2256A>T
NR_135913.1:n.1943A>T
XM_006716538.3:c.1311A>T	XP_006716601.2:p.Ile437=
XM_011516950.2:c.1251A>T	XP_011515252.1:p.Ile417=
XM_017013296.1:c.1191A>T	XP_016868785.1:p.Ile397=
XM_017013297.1:c.933A>T	XP_016868786.1:p.Ile311=
XM_017013298.1:c.933A>T	XP_016868787.1:p.Ile311=
NM_012472.6:c.1293A>T MANE Select	NP_036604.2:p.Ile431=
NM_001321961.2:c.1233A>T	NP_001308890.1:p.Ile411=
NM_001321962.2:c.1047A>T	NP_001308891.1:p.Ile349=
NM_001321963.2:c.933A>T	NP_001308892.1:p.Ile311=
NM_001321964.2:c.933A>T	NP_001308893.1:p.Ile311=
NM_001321965.2:c.933A>T	NP_001308894.1:p.Ile311=
NM_001321966.2:c.873A>T	NP_001308895.1:p.Ile291=
NR_073525.3:n.1445A>T
NR_135905.2:n.1434A>T
NR_135906.2:n.875A>T
NR_135907.2:n.1121A>T
NR_135908.2:n.815A>T
NR_135909.2:n.1331A>T
NR_135910.2:n.1681A>T
NR_135911.2:n.1801A>T
NR_135912.2:n.2360A>T
NR_135913.2:n.2047A>T