Canonical Allele Identifier: CA463074111

Gene: DNAAF11

Linked Data

• dbSNP Id: rs1398472173
• gnomAD v2: 8-133584656-T-C
• gnomAD v4: 8-132572408-T-C
• MyVariant Identifiers: chr8:g.133584656T>C (hg19) ; chr8:g.132572408T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572408T>C , CM000670.2:g.132572408T>C	GRCh38
NC_000008.10:g.133584656T>C , CM000670.1:g.133584656T>C	GRCh37
NC_000008.9:g.133653838T>C	NCBI36
NG_033068.1:g.108208A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1299A>G MANE Select	ENSP00000484634.1:p.Gln433=
ENST00000250173.5:c.*163A>G	ENSP00000250173.2:n.*163A>G
ENST00000518642.5:c.*163A>G	ENSP00000428610.1:n.*163A>G
ENST00000519595.5:c.1299A>G	ENSP00000429791.1:p.Gln433=
ENST00000522789.5:c.519A>G	ENSP00000428015.1:p.Gln173=
ENST00000618342.1:c.1299A>G	ENSP00000484802.1:p.Gln433=
ENST00000620350.4:c.1299A>G	ENSP00000484634.1:p.Gln433=
NM_012472.4:c.1299A>G	NP_036604.2:p.Gln433=
NR_073525.1:n.1523A>G
XM_006716538.2:c.1317A>G	XP_006716601.2:p.Gln439=
XM_011516950.1:c.1257A>G	XP_011515252.1:p.Gln419=
XM_011516952.1:c.1053A>G	XP_011515254.1:p.Gln351=
XM_011516953.1:c.939A>G	XP_011515255.1:p.Gln313=
XM_011516954.1:c.939A>G	XP_011515256.1:p.Gln313=
XR_428377.2:n.1551A>G
NM_001321961.1:c.1239A>G	NP_001308890.1:p.Gln413=
NM_001321962.1:c.1053A>G	NP_001308891.1:p.Gln351=
NM_001321963.1:c.939A>G	NP_001308892.1:p.Gln313=
NM_001321964.1:c.939A>G	NP_001308893.1:p.Gln313=
NM_001321965.1:c.939A>G	NP_001308894.1:p.Gln313=
NM_001321966.1:c.879A>G	NP_001308895.1:p.Gln293=
NM_012472.5:c.1299A>G	NP_036604.2:p.Gln433=
NR_073525.2:n.1523A>G
NR_135905.1:n.1512A>G
NR_135906.1:n.953A>G
NR_135907.1:n.1199A>G
NR_135908.1:n.893A>G
NR_135909.1:n.1317A>G
NR_135910.1:n.1624A>G
NR_135911.1:n.1703A>G
NR_135912.1:n.2262A>G
NR_135913.1:n.1949A>G
XM_006716538.3:c.1317A>G	XP_006716601.2:p.Gln439=
XM_011516950.2:c.1257A>G	XP_011515252.1:p.Gln419=
XM_017013296.1:c.1197A>G	XP_016868785.1:p.Gln399=
XM_017013297.1:c.939A>G	XP_016868786.1:p.Gln313=
XM_017013298.1:c.939A>G	XP_016868787.1:p.Gln313=
NM_012472.6:c.1299A>G MANE Select	NP_036604.2:p.Gln433=
NM_001321961.2:c.1239A>G	NP_001308890.1:p.Gln413=
NM_001321962.2:c.1053A>G	NP_001308891.1:p.Gln351=
NM_001321963.2:c.939A>G	NP_001308892.1:p.Gln313=
NM_001321964.2:c.939A>G	NP_001308893.1:p.Gln313=
NM_001321965.2:c.939A>G	NP_001308894.1:p.Gln313=
NM_001321966.2:c.879A>G	NP_001308895.1:p.Gln293=
NR_073525.3:n.1451A>G
NR_135905.2:n.1440A>G
NR_135906.2:n.881A>G
NR_135907.2:n.1127A>G
NR_135908.2:n.821A>G
NR_135909.2:n.1337A>G
NR_135910.2:n.1687A>G
NR_135911.2:n.1807A>G
NR_135912.2:n.2366A>G
NR_135913.2:n.2053A>G