Canonical Allele Identifier: CA186268557

Gene: DNAAF11

Linked Data

• dbSNP Id: rs746824888
• gnomAD v4: 8-132572250-C-T
• MyVariant Identifiers: chr8:g.133584498C>T (hg19) ; chr8:g.132572250C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572250C>T , CM000670.2:g.132572250C>T	GRCh38
NC_000008.10:g.133584498C>T , CM000670.1:g.133584498C>T	GRCh37
NC_000008.9:g.133653680C>T	NCBI36
NG_033068.1:g.108366G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.*56G>A MANE Select	ENSP00000484634.1:n.*56G>A
ENST00000250173.5:c.*321G>A	ENSP00000250173.2:n.*321G>A
ENST00000518642.5:c.*321G>A	ENSP00000428610.1:n.*321G>A
ENST00000519595.5:c.*56G>A	ENSP00000429791.1:n.*56G>A
ENST00000522789.5:c.677G>A	ENSP00000428015.1:n.677G>A
ENST00000618342.1:c.1457G>A	ENSP00000484802.1:n.1457G>A
ENST00000620350.4:c.*56G>A	ENSP00000484634.1:n.*56G>A
NM_012472.4:c.*56G>A	NP_036604.2:n.*56G>A
NR_073525.1:n.1681G>A
XM_006716538.2:c.*56G>A	XP_006716601.2:n.*56G>A
XM_011516950.1:c.*56G>A	XP_011515252.1:n.*56G>A
XM_011516952.1:c.*56G>A	XP_011515254.1:n.*56G>A
XM_011516953.1:c.*56G>A	XP_011515255.1:n.*56G>A
XM_011516954.1:c.*56G>A	XP_011515256.1:n.*56G>A
XR_428377.2:n.1709G>A
NM_001321961.1:c.*56G>A	NP_001308890.1:n.*56G>A
NM_001321962.1:c.*56G>A	NP_001308891.1:n.*56G>A
NM_001321963.1:c.*56G>A	NP_001308892.1:n.*56G>A
NM_001321964.1:c.*56G>A	NP_001308893.1:n.*56G>A
NM_001321965.1:c.*56G>A	NP_001308894.1:n.*56G>A
NM_001321966.1:c.*56G>A	NP_001308895.1:n.*56G>A
NM_012472.5:c.*56G>A	NP_036604.2:n.*56G>A
NR_073525.2:n.1681G>A
NR_135905.1:n.1670G>A
NR_135906.1:n.1111G>A
NR_135907.1:n.1357G>A
NR_135908.1:n.1051G>A
NR_135909.1:n.1475G>A
NR_135910.1:n.1782G>A
NR_135911.1:n.1861G>A
NR_135912.1:n.2420G>A
NR_135913.1:n.2107G>A
XM_006716538.3:c.*56G>A	XP_006716601.2:n.*56G>A
XM_011516950.2:c.*56G>A	XP_011515252.1:n.*56G>A
XM_017013296.1:c.*56G>A	XP_016868785.1:n.*56G>A
XM_017013297.1:c.*56G>A	XP_016868786.1:n.*56G>A
XM_017013298.1:c.*56G>A	XP_016868787.1:n.*56G>A
NM_012472.6:c.*56G>A MANE Select	NP_036604.2:n.*56G>A
NM_001321961.2:c.*56G>A	NP_001308890.1:n.*56G>A
NM_001321962.2:c.*56G>A	NP_001308891.1:n.*56G>A
NM_001321963.2:c.*56G>A	NP_001308892.1:n.*56G>A
NM_001321964.2:c.*56G>A	NP_001308893.1:n.*56G>A
NM_001321965.2:c.*56G>A	NP_001308894.1:n.*56G>A
NM_001321966.2:c.*56G>A	NP_001308895.1:n.*56G>A
NR_073525.3:n.1609G>A
NR_135905.2:n.1598G>A
NR_135906.2:n.1039G>A
NR_135907.2:n.1285G>A
NR_135908.2:n.979G>A
NR_135909.2:n.1495G>A
NR_135910.2:n.1845G>A
NR_135911.2:n.1965G>A
NR_135912.2:n.2524G>A
NR_135913.2:n.2211G>A