Canonical Allele Identifier: CA372292052

Gene: DNAAF11

Linked Data

• gnomAD v4: 8-132572479-T-C
• MyVariant Identifiers: chr8:g.133584727T>C (hg19) ; chr8:g.132572479T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572479T>C , CM000670.2:g.132572479T>C	GRCh38
NC_000008.10:g.133584727T>C , CM000670.1:g.133584727T>C	GRCh37
NC_000008.9:g.133653909T>C	NCBI36
NG_033068.1:g.108137A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1228A>G MANE Select	ENSP00000484634.1:p.Ser410Gly
ENST00000250173.5:c.*92A>G	ENSP00000250173.2:n.*92A>G
ENST00000518642.5:c.*92A>G	ENSP00000428610.1:n.*92A>G
ENST00000519595.5:c.1228A>G	ENSP00000429791.1:p.Ser410Gly
ENST00000522597.1:n.497A>G
ENST00000522789.5:c.448A>G	ENSP00000428015.1:p.Ser150Gly
ENST00000618342.1:c.1228A>G	ENSP00000484802.1:p.Ser410Gly
ENST00000620350.4:c.1228A>G	ENSP00000484634.1:p.Ser410Gly
NM_012472.4:c.1228A>G	NP_036604.2:p.Ser410Gly
NR_073525.1:n.1452A>G
XM_006716538.2:c.1246A>G	XP_006716601.2:p.Ser416Gly
XM_011516950.1:c.1186A>G	XP_011515252.1:p.Ser396Gly
XM_011516952.1:c.982A>G	XP_011515254.1:p.Ser328Gly
XM_011516953.1:c.868A>G	XP_011515255.1:p.Ser290Gly
XM_011516954.1:c.868A>G	XP_011515256.1:p.Ser290Gly
XR_428377.2:n.1480A>G
NM_001321961.1:c.1168A>G	NP_001308890.1:p.Ser390Gly
NM_001321962.1:c.982A>G	NP_001308891.1:p.Ser328Gly
NM_001321963.1:c.868A>G	NP_001308892.1:p.Ser290Gly
NM_001321964.1:c.868A>G	NP_001308893.1:p.Ser290Gly
NM_001321965.1:c.868A>G	NP_001308894.1:p.Ser290Gly
NM_001321966.1:c.808A>G	NP_001308895.1:p.Ser270Gly
NM_012472.5:c.1228A>G	NP_036604.2:p.Ser410Gly
NR_073525.2:n.1452A>G
NR_135905.1:n.1441A>G
NR_135906.1:n.882A>G
NR_135907.1:n.1128A>G
NR_135908.1:n.822A>G
NR_135909.1:n.1246A>G
NR_135910.1:n.1553A>G
NR_135911.1:n.1632A>G
NR_135912.1:n.2191A>G
NR_135913.1:n.1878A>G
XM_006716538.3:c.1246A>G	XP_006716601.2:p.Ser416Gly
XM_011516950.2:c.1186A>G	XP_011515252.1:p.Ser396Gly
XM_017013296.1:c.1126A>G	XP_016868785.1:p.Ser376Gly
XM_017013297.1:c.868A>G	XP_016868786.1:p.Ser290Gly
XM_017013298.1:c.868A>G	XP_016868787.1:p.Ser290Gly
NM_012472.6:c.1228A>G MANE Select	NP_036604.2:p.Ser410Gly
NM_001321961.2:c.1168A>G	NP_001308890.1:p.Ser390Gly
NM_001321962.2:c.982A>G	NP_001308891.1:p.Ser328Gly
NM_001321963.2:c.868A>G	NP_001308892.1:p.Ser290Gly
NM_001321964.2:c.868A>G	NP_001308893.1:p.Ser290Gly
NM_001321965.2:c.868A>G	NP_001308894.1:p.Ser290Gly
NM_001321966.2:c.808A>G	NP_001308895.1:p.Ser270Gly
NR_073525.3:n.1380A>G
NR_135905.2:n.1369A>G
NR_135906.2:n.810A>G
NR_135907.2:n.1056A>G
NR_135908.2:n.750A>G
NR_135909.2:n.1266A>G
NR_135910.2:n.1616A>G
NR_135911.2:n.1736A>G
NR_135912.2:n.2295A>G
NR_135913.2:n.1982A>G