Canonical Allele Identifier: CA372291701

Gene: DNAAF11

Linked Data

• dbSNP Id: rs1563951609
• gnomAD v4: 8-132572322-A-C
• MyVariant Identifiers: chr8:g.133584570A>C (hg19) ; chr8:g.132572322A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572322A>C , CM000670.2:g.132572322A>C	GRCh38
NC_000008.10:g.133584570A>C , CM000670.1:g.133584570A>C	GRCh37
NC_000008.9:g.133653752A>C	NCBI36
NG_033068.1:g.108294T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1385T>G MANE Select	ENSP00000484634.1:p.Val462Gly
ENST00000250173.5:c.*249T>G	ENSP00000250173.2:n.*249T>G
ENST00000518642.5:c.*249T>G	ENSP00000428610.1:n.*249T>G
ENST00000519595.5:c.1385T>G	ENSP00000429791.1:p.Val462Gly
ENST00000522789.5:c.605T>G	ENSP00000428015.1:p.Val202Gly
ENST00000618342.1:c.1385T>G	ENSP00000484802.1:p.Val462Gly
ENST00000620350.4:c.1385T>G	ENSP00000484634.1:p.Val462Gly
NM_012472.4:c.1385T>G	NP_036604.2:p.Val462Gly
NR_073525.1:n.1609T>G
XM_006716538.2:c.1403T>G	XP_006716601.2:p.Val468Gly
XM_011516950.1:c.1343T>G	XP_011515252.1:p.Val448Gly
XM_011516952.1:c.1139T>G	XP_011515254.1:p.Val380Gly
XM_011516953.1:c.1025T>G	XP_011515255.1:p.Val342Gly
XM_011516954.1:c.1025T>G	XP_011515256.1:p.Val342Gly
XR_428377.2:n.1637T>G
NM_001321961.1:c.1325T>G	NP_001308890.1:p.Val442Gly
NM_001321962.1:c.1139T>G	NP_001308891.1:p.Val380Gly
NM_001321963.1:c.1025T>G	NP_001308892.1:p.Val342Gly
NM_001321964.1:c.1025T>G	NP_001308893.1:p.Val342Gly
NM_001321965.1:c.1025T>G	NP_001308894.1:p.Val342Gly
NM_001321966.1:c.965T>G	NP_001308895.1:p.Val322Gly
NM_012472.5:c.1385T>G	NP_036604.2:p.Val462Gly
NR_073525.2:n.1609T>G
NR_135905.1:n.1598T>G
NR_135906.1:n.1039T>G
NR_135907.1:n.1285T>G
NR_135908.1:n.979T>G
NR_135909.1:n.1403T>G
NR_135910.1:n.1710T>G
NR_135911.1:n.1789T>G
NR_135912.1:n.2348T>G
NR_135913.1:n.2035T>G
XM_006716538.3:c.1403T>G	XP_006716601.2:p.Val468Gly
XM_011516950.2:c.1343T>G	XP_011515252.1:p.Val448Gly
XM_017013296.1:c.1283T>G	XP_016868785.1:p.Val428Gly
XM_017013297.1:c.1025T>G	XP_016868786.1:p.Val342Gly
XM_017013298.1:c.1025T>G	XP_016868787.1:p.Val342Gly
NM_012472.6:c.1385T>G MANE Select	NP_036604.2:p.Val462Gly
NM_001321961.2:c.1325T>G	NP_001308890.1:p.Val442Gly
NM_001321962.2:c.1139T>G	NP_001308891.1:p.Val380Gly
NM_001321963.2:c.1025T>G	NP_001308892.1:p.Val342Gly
NM_001321964.2:c.1025T>G	NP_001308893.1:p.Val342Gly
NM_001321965.2:c.1025T>G	NP_001308894.1:p.Val342Gly
NM_001321966.2:c.965T>G	NP_001308895.1:p.Val322Gly
NR_073525.3:n.1537T>G
NR_135905.2:n.1526T>G
NR_135906.2:n.967T>G
NR_135907.2:n.1213T>G
NR_135908.2:n.907T>G
NR_135909.2:n.1423T>G
NR_135910.2:n.1773T>G
NR_135911.2:n.1893T>G
NR_135912.2:n.2452T>G
NR_135913.2:n.2139T>G