Canonical Allele Identifier: CA372291835

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584632T>A (hg19) ; chr8:g.132572384T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572384T>A , CM000670.2:g.132572384T>A	GRCh38
NC_000008.10:g.133584632T>A , CM000670.1:g.133584632T>A	GRCh37
NC_000008.9:g.133653814T>A	NCBI36
NG_033068.1:g.108232A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000620350.5:c.1323A>T MANE Select	ENSP00000484634.1:p.Arg441Ser
ENST00000250173.5:c.*187A>T	ENSP00000250173.2:n.*187A>T
ENST00000518642.5:c.*187A>T	ENSP00000428610.1:n.*187A>T
ENST00000519595.5:c.1323A>T	ENSP00000429791.1:p.Arg441Ser
ENST00000522789.5:c.543A>T	ENSP00000428015.1:p.Arg181Ser
ENST00000618342.1:c.1323A>T	ENSP00000484802.1:p.Arg441Ser
ENST00000620350.4:c.1323A>T	ENSP00000484634.1:p.Arg441Ser
NM_012472.4:c.1323A>T	NP_036604.2:p.Arg441Ser
NR_073525.1:n.1547A>T
XM_006716538.2:c.1341A>T	XP_006716601.2:p.Arg447Ser
XM_011516950.1:c.1281A>T	XP_011515252.1:p.Arg427Ser
XM_011516952.1:c.1077A>T	XP_011515254.1:p.Arg359Ser
XM_011516953.1:c.963A>T	XP_011515255.1:p.Arg321Ser
XM_011516954.1:c.963A>T	XP_011515256.1:p.Arg321Ser
XR_428377.2:n.1575A>T
NM_001321961.1:c.1263A>T	NP_001308890.1:p.Arg421Ser
NM_001321962.1:c.1077A>T	NP_001308891.1:p.Arg359Ser
NM_001321963.1:c.963A>T	NP_001308892.1:p.Arg321Ser
NM_001321964.1:c.963A>T	NP_001308893.1:p.Arg321Ser
NM_001321965.1:c.963A>T	NP_001308894.1:p.Arg321Ser
NM_001321966.1:c.903A>T	NP_001308895.1:p.Arg301Ser
NM_012472.5:c.1323A>T	NP_036604.2:p.Arg441Ser
NR_073525.2:n.1547A>T
NR_135905.1:n.1536A>T
NR_135906.1:n.977A>T
NR_135907.1:n.1223A>T
NR_135908.1:n.917A>T
NR_135909.1:n.1341A>T
NR_135910.1:n.1648A>T
NR_135911.1:n.1727A>T
NR_135912.1:n.2286A>T
NR_135913.1:n.1973A>T
XM_006716538.3:c.1341A>T	XP_006716601.2:p.Arg447Ser
XM_011516950.2:c.1281A>T	XP_011515252.1:p.Arg427Ser
XM_017013296.1:c.1221A>T	XP_016868785.1:p.Arg407Ser
XM_017013297.1:c.963A>T	XP_016868786.1:p.Arg321Ser
XM_017013298.1:c.963A>T	XP_016868787.1:p.Arg321Ser
NM_012472.6:c.1323A>T MANE Select	NP_036604.2:p.Arg441Ser
NM_001321961.2:c.1263A>T	NP_001308890.1:p.Arg421Ser
NM_001321962.2:c.1077A>T	NP_001308891.1:p.Arg359Ser
NM_001321963.2:c.963A>T	NP_001308892.1:p.Arg321Ser
NM_001321964.2:c.963A>T	NP_001308893.1:p.Arg321Ser
NM_001321965.2:c.963A>T	NP_001308894.1:p.Arg321Ser
NM_001321966.2:c.903A>T	NP_001308895.1:p.Arg301Ser
NR_073525.3:n.1475A>T
NR_135905.2:n.1464A>T
NR_135906.2:n.905A>T
NR_135907.2:n.1151A>T
NR_135908.2:n.845A>T
NR_135909.2:n.1361A>T
NR_135910.2:n.1711A>T
NR_135911.2:n.1831A>T
NR_135912.2:n.2390A>T
NR_135913.2:n.2077A>T