Canonical Allele Identifier: CA372291728

Gene: DNAAF11

Linked Data

• gnomAD v4: 8-132572334-T-A
• MyVariant Identifiers: chr8:g.133584582T>A (hg19) ; chr8:g.132572334T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572334T>A , CM000670.2:g.132572334T>A	GRCh38
NC_000008.10:g.133584582T>A , CM000670.1:g.133584582T>A	GRCh37
NC_000008.9:g.133653764T>A	NCBI36
NG_033068.1:g.108282A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1373A>T MANE Select	ENSP00000484634.1:p.Asp458Val
ENST00000250173.5:c.*237A>T	ENSP00000250173.2:n.*237A>T
ENST00000518642.5:c.*237A>T	ENSP00000428610.1:n.*237A>T
ENST00000519595.5:c.1373A>T	ENSP00000429791.1:p.Asp458Val
ENST00000522789.5:c.593A>T	ENSP00000428015.1:p.Asp198Val
ENST00000618342.1:c.1373A>T	ENSP00000484802.1:p.Asp458Val
ENST00000620350.4:c.1373A>T	ENSP00000484634.1:p.Asp458Val
NM_012472.4:c.1373A>T	NP_036604.2:p.Asp458Val
NR_073525.1:n.1597A>T
XM_006716538.2:c.1391A>T	XP_006716601.2:p.Asp464Val
XM_011516950.1:c.1331A>T	XP_011515252.1:p.Asp444Val
XM_011516952.1:c.1127A>T	XP_011515254.1:p.Asp376Val
XM_011516953.1:c.1013A>T	XP_011515255.1:p.Asp338Val
XM_011516954.1:c.1013A>T	XP_011515256.1:p.Asp338Val
XR_428377.2:n.1625A>T
NM_001321961.1:c.1313A>T	NP_001308890.1:p.Asp438Val
NM_001321962.1:c.1127A>T	NP_001308891.1:p.Asp376Val
NM_001321963.1:c.1013A>T	NP_001308892.1:p.Asp338Val
NM_001321964.1:c.1013A>T	NP_001308893.1:p.Asp338Val
NM_001321965.1:c.1013A>T	NP_001308894.1:p.Asp338Val
NM_001321966.1:c.953A>T	NP_001308895.1:p.Asp318Val
NM_012472.5:c.1373A>T	NP_036604.2:p.Asp458Val
NR_073525.2:n.1597A>T
NR_135905.1:n.1586A>T
NR_135906.1:n.1027A>T
NR_135907.1:n.1273A>T
NR_135908.1:n.967A>T
NR_135909.1:n.1391A>T
NR_135910.1:n.1698A>T
NR_135911.1:n.1777A>T
NR_135912.1:n.2336A>T
NR_135913.1:n.2023A>T
XM_006716538.3:c.1391A>T	XP_006716601.2:p.Asp464Val
XM_011516950.2:c.1331A>T	XP_011515252.1:p.Asp444Val
XM_017013296.1:c.1271A>T	XP_016868785.1:p.Asp424Val
XM_017013297.1:c.1013A>T	XP_016868786.1:p.Asp338Val
XM_017013298.1:c.1013A>T	XP_016868787.1:p.Asp338Val
NM_012472.6:c.1373A>T MANE Select	NP_036604.2:p.Asp458Val
NM_001321961.2:c.1313A>T	NP_001308890.1:p.Asp438Val
NM_001321962.2:c.1127A>T	NP_001308891.1:p.Asp376Val
NM_001321963.2:c.1013A>T	NP_001308892.1:p.Asp338Val
NM_001321964.2:c.1013A>T	NP_001308893.1:p.Asp338Val
NM_001321965.2:c.1013A>T	NP_001308894.1:p.Asp338Val
NM_001321966.2:c.953A>T	NP_001308895.1:p.Asp318Val
NR_073525.3:n.1525A>T
NR_135905.2:n.1514A>T
NR_135906.2:n.955A>T
NR_135907.2:n.1201A>T
NR_135908.2:n.895A>T
NR_135909.2:n.1411A>T
NR_135910.2:n.1761A>T
NR_135911.2:n.1881A>T
NR_135912.2:n.2440A>T
NR_135913.2:n.2127A>T