Canonical Allele Identifier: CA186268566

Gene: DNAAF11

Linked Data

• dbSNP Id: rs199654680
• gnomAD v4: 8-132572415-A-G
• MyVariant Identifiers: chr8:g.133584663A>G (hg19) ; chr8:g.132572415A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572415A>G , CM000670.2:g.132572415A>G	GRCh38
NC_000008.10:g.133584663A>G , CM000670.1:g.133584663A>G	GRCh37
NC_000008.9:g.133653845A>G	NCBI36
NG_033068.1:g.108201T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1292T>C MANE Select	ENSP00000484634.1:p.Ile431Thr
ENST00000250173.5:c.*156T>C	ENSP00000250173.2:n.*156T>C
ENST00000518642.5:c.*156T>C	ENSP00000428610.1:n.*156T>C
ENST00000519595.5:c.1292T>C	ENSP00000429791.1:p.Ile431Thr
ENST00000522789.5:c.512T>C	ENSP00000428015.1:p.Ile171Thr
ENST00000618342.1:c.1292T>C	ENSP00000484802.1:p.Ile431Thr
ENST00000620350.4:c.1292T>C	ENSP00000484634.1:p.Ile431Thr
NM_012472.4:c.1292T>C	NP_036604.2:p.Ile431Thr
NR_073525.1:n.1516T>C
XM_006716538.2:c.1310T>C	XP_006716601.2:p.Ile437Thr
XM_011516950.1:c.1250T>C	XP_011515252.1:p.Ile417Thr
XM_011516952.1:c.1046T>C	XP_011515254.1:p.Ile349Thr
XM_011516953.1:c.932T>C	XP_011515255.1:p.Ile311Thr
XM_011516954.1:c.932T>C	XP_011515256.1:p.Ile311Thr
XR_428377.2:n.1544T>C
NM_001321961.1:c.1232T>C	NP_001308890.1:p.Ile411Thr
NM_001321962.1:c.1046T>C	NP_001308891.1:p.Ile349Thr
NM_001321963.1:c.932T>C	NP_001308892.1:p.Ile311Thr
NM_001321964.1:c.932T>C	NP_001308893.1:p.Ile311Thr
NM_001321965.1:c.932T>C	NP_001308894.1:p.Ile311Thr
NM_001321966.1:c.872T>C	NP_001308895.1:p.Ile291Thr
NM_012472.5:c.1292T>C	NP_036604.2:p.Ile431Thr
NR_073525.2:n.1516T>C
NR_135905.1:n.1505T>C
NR_135906.1:n.946T>C
NR_135907.1:n.1192T>C
NR_135908.1:n.886T>C
NR_135909.1:n.1310T>C
NR_135910.1:n.1617T>C
NR_135911.1:n.1696T>C
NR_135912.1:n.2255T>C
NR_135913.1:n.1942T>C
XM_006716538.3:c.1310T>C	XP_006716601.2:p.Ile437Thr
XM_011516950.2:c.1250T>C	XP_011515252.1:p.Ile417Thr
XM_017013296.1:c.1190T>C	XP_016868785.1:p.Ile397Thr
XM_017013297.1:c.932T>C	XP_016868786.1:p.Ile311Thr
XM_017013298.1:c.932T>C	XP_016868787.1:p.Ile311Thr
NM_012472.6:c.1292T>C MANE Select	NP_036604.2:p.Ile431Thr
NM_001321961.2:c.1232T>C	NP_001308890.1:p.Ile411Thr
NM_001321962.2:c.1046T>C	NP_001308891.1:p.Ile349Thr
NM_001321963.2:c.932T>C	NP_001308892.1:p.Ile311Thr
NM_001321964.2:c.932T>C	NP_001308893.1:p.Ile311Thr
NM_001321965.2:c.932T>C	NP_001308894.1:p.Ile311Thr
NM_001321966.2:c.872T>C	NP_001308895.1:p.Ile291Thr
NR_073525.3:n.1444T>C
NR_135905.2:n.1433T>C
NR_135906.2:n.874T>C
NR_135907.2:n.1120T>C
NR_135908.2:n.814T>C
NR_135909.2:n.1330T>C
NR_135910.2:n.1680T>C
NR_135911.2:n.1800T>C
NR_135912.2:n.2359T>C
NR_135913.2:n.2046T>C