Canonical Allele Identifier: CA4881059

Gene: DNAAF11

Linked Data

• dbSNP Id: rs749169431
• ExAC: 8:133584527 C / T
• gnomAD v2: 8-133584527-C-T
• gnomAD v4: 8-132572279-C-T
• MyVariant Identifiers: chr8:g.133584527C>T (hg19) ; chr8:g.132572279C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572279C>T , CM000670.2:g.132572279C>T	GRCh38
NC_000008.10:g.133584527C>T , CM000670.1:g.133584527C>T	GRCh37
NC_000008.9:g.133653709C>T	NCBI36
NG_033068.1:g.108337G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.*27G>A MANE Select	ENSP00000484634.1:n.*27G>A
ENST00000250173.5:c.*292G>A	ENSP00000250173.2:n.*292G>A
ENST00000518642.5:c.*292G>A	ENSP00000428610.1:n.*292G>A
ENST00000519595.5:c.*27G>A	ENSP00000429791.1:n.*27G>A
ENST00000522789.5:c.648G>A	ENSP00000428015.1:n.648G>A
ENST00000618342.1:c.1428G>A	ENSP00000484802.1:n.1428G>A
ENST00000620350.4:c.*27G>A	ENSP00000484634.1:n.*27G>A
NM_012472.4:c.*27G>A	NP_036604.2:n.*27G>A
NR_073525.1:n.1652G>A
XM_006716538.2:c.*27G>A	XP_006716601.2:n.*27G>A
XM_011516950.1:c.*27G>A	XP_011515252.1:n.*27G>A
XM_011516952.1:c.*27G>A	XP_011515254.1:n.*27G>A
XM_011516953.1:c.*27G>A	XP_011515255.1:n.*27G>A
XM_011516954.1:c.*27G>A	XP_011515256.1:n.*27G>A
XR_428377.2:n.1680G>A
NM_001321961.1:c.*27G>A	NP_001308890.1:n.*27G>A
NM_001321962.1:c.*27G>A	NP_001308891.1:n.*27G>A
NM_001321963.1:c.*27G>A	NP_001308892.1:n.*27G>A
NM_001321964.1:c.*27G>A	NP_001308893.1:n.*27G>A
NM_001321965.1:c.*27G>A	NP_001308894.1:n.*27G>A
NM_001321966.1:c.*27G>A	NP_001308895.1:n.*27G>A
NM_012472.5:c.*27G>A	NP_036604.2:n.*27G>A
NR_073525.2:n.1652G>A
NR_135905.1:n.1641G>A
NR_135906.1:n.1082G>A
NR_135907.1:n.1328G>A
NR_135908.1:n.1022G>A
NR_135909.1:n.1446G>A
NR_135910.1:n.1753G>A
NR_135911.1:n.1832G>A
NR_135912.1:n.2391G>A
NR_135913.1:n.2078G>A
XM_006716538.3:c.*27G>A	XP_006716601.2:n.*27G>A
XM_011516950.2:c.*27G>A	XP_011515252.1:n.*27G>A
XM_017013296.1:c.*27G>A	XP_016868785.1:n.*27G>A
XM_017013297.1:c.*27G>A	XP_016868786.1:n.*27G>A
XM_017013298.1:c.*27G>A	XP_016868787.1:n.*27G>A
NM_012472.6:c.*27G>A MANE Select	NP_036604.2:n.*27G>A
NM_001321961.2:c.*27G>A	NP_001308890.1:n.*27G>A
NM_001321962.2:c.*27G>A	NP_001308891.1:n.*27G>A
NM_001321963.2:c.*27G>A	NP_001308892.1:n.*27G>A
NM_001321964.2:c.*27G>A	NP_001308893.1:n.*27G>A
NM_001321965.2:c.*27G>A	NP_001308894.1:n.*27G>A
NM_001321966.2:c.*27G>A	NP_001308895.1:n.*27G>A
NR_073525.3:n.1580G>A
NR_135905.2:n.1569G>A
NR_135906.2:n.1010G>A
NR_135907.2:n.1256G>A
NR_135908.2:n.950G>A
NR_135909.2:n.1466G>A
NR_135910.2:n.1816G>A
NR_135911.2:n.1936G>A
NR_135912.2:n.2495G>A
NR_135913.2:n.2182G>A