Canonical Allele Identifier: CA372291804

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584615A>G (hg19) ; chr8:g.132572367A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572367A>G , CM000670.2:g.132572367A>G	GRCh38
NC_000008.10:g.133584615A>G , CM000670.1:g.133584615A>G	GRCh37
NC_000008.9:g.133653797A>G	NCBI36
NG_033068.1:g.108249T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000620350.5:c.1340T>C MANE Select	ENSP00000484634.1:p.Ile447Thr
ENST00000250173.5:c.*204T>C	ENSP00000250173.2:n.*204T>C
ENST00000518642.5:c.*204T>C	ENSP00000428610.1:n.*204T>C
ENST00000519595.5:c.1340T>C	ENSP00000429791.1:p.Ile447Thr
ENST00000522789.5:c.560T>C	ENSP00000428015.1:p.Ile187Thr
ENST00000618342.1:c.1340T>C	ENSP00000484802.1:p.Ile447Thr
ENST00000620350.4:c.1340T>C	ENSP00000484634.1:p.Ile447Thr
NM_012472.4:c.1340T>C	NP_036604.2:p.Ile447Thr
NR_073525.1:n.1564T>C
XM_006716538.2:c.1358T>C	XP_006716601.2:p.Ile453Thr
XM_011516950.1:c.1298T>C	XP_011515252.1:p.Ile433Thr
XM_011516952.1:c.1094T>C	XP_011515254.1:p.Ile365Thr
XM_011516953.1:c.980T>C	XP_011515255.1:p.Ile327Thr
XM_011516954.1:c.980T>C	XP_011515256.1:p.Ile327Thr
XR_428377.2:n.1592T>C
NM_001321961.1:c.1280T>C	NP_001308890.1:p.Ile427Thr
NM_001321962.1:c.1094T>C	NP_001308891.1:p.Ile365Thr
NM_001321963.1:c.980T>C	NP_001308892.1:p.Ile327Thr
NM_001321964.1:c.980T>C	NP_001308893.1:p.Ile327Thr
NM_001321965.1:c.980T>C	NP_001308894.1:p.Ile327Thr
NM_001321966.1:c.920T>C	NP_001308895.1:p.Ile307Thr
NM_012472.5:c.1340T>C	NP_036604.2:p.Ile447Thr
NR_073525.2:n.1564T>C
NR_135905.1:n.1553T>C
NR_135906.1:n.994T>C
NR_135907.1:n.1240T>C
NR_135908.1:n.934T>C
NR_135909.1:n.1358T>C
NR_135910.1:n.1665T>C
NR_135911.1:n.1744T>C
NR_135912.1:n.2303T>C
NR_135913.1:n.1990T>C
XM_006716538.3:c.1358T>C	XP_006716601.2:p.Ile453Thr
XM_011516950.2:c.1298T>C	XP_011515252.1:p.Ile433Thr
XM_017013296.1:c.1238T>C	XP_016868785.1:p.Ile413Thr
XM_017013297.1:c.980T>C	XP_016868786.1:p.Ile327Thr
XM_017013298.1:c.980T>C	XP_016868787.1:p.Ile327Thr
NM_012472.6:c.1340T>C MANE Select	NP_036604.2:p.Ile447Thr
NM_001321961.2:c.1280T>C	NP_001308890.1:p.Ile427Thr
NM_001321962.2:c.1094T>C	NP_001308891.1:p.Ile365Thr
NM_001321963.2:c.980T>C	NP_001308892.1:p.Ile327Thr
NM_001321964.2:c.980T>C	NP_001308893.1:p.Ile327Thr
NM_001321965.2:c.980T>C	NP_001308894.1:p.Ile327Thr
NM_001321966.2:c.920T>C	NP_001308895.1:p.Ile307Thr
NR_073525.3:n.1492T>C
NR_135905.2:n.1481T>C
NR_135906.2:n.922T>C
NR_135907.2:n.1168T>C
NR_135908.2:n.862T>C
NR_135909.2:n.1378T>C
NR_135910.2:n.1728T>C
NR_135911.2:n.1848T>C
NR_135912.2:n.2407T>C
NR_135913.2:n.2094T>C