Canonical Allele Identifier: CA372295680

Gene: DNAAF11

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132638038A>C , CM000670.2:g.132638038A>C	GRCh38
NC_000008.10:g.133650284A>C , CM000670.1:g.133650284A>C	GRCh37
NC_000008.9:g.133719466A>C	NCBI36
NG_033068.1:g.42580T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_012472.6:c.326T>G MANE Select	NP_036604.2:p.Leu109Trp
ENST00000620350.5:c.326T>G MANE Select	ENSP00000484634.1:p.Leu109Trp
NM_001321961.1:c.326T>G	NP_001308890.1:p.Leu109Trp
NM_001321961.2:c.326T>G	NP_001308890.1:p.Leu109Trp
NM_001321962.1:c.80T>G	NP_001308891.1:p.Leu27Trp
NM_001321962.2:c.80T>G	NP_001308891.1:p.Leu27Trp
NM_001321963.1:c.-35T>G	NP_001308892.1:n.-35T>G
NM_001321963.2:c.-35T>G	NP_001308892.1:n.-35T>G
NM_001321964.1:c.-35T>G	NP_001308893.1:n.-35T>G
NM_001321964.2:c.-35T>G	NP_001308893.1:n.-35T>G
NM_001321965.1:c.-35T>G	NP_001308894.1:n.-35T>G
NM_001321965.2:c.-35T>G	NP_001308894.1:n.-35T>G
NM_001321966.1:c.-35T>G	NP_001308895.1:n.-35T>G
NM_001321966.2:c.-35T>G	NP_001308895.1:n.-35T>G
NM_012472.4:c.326T>G	NP_036604.2:p.Leu109Trp
NM_012472.5:c.326T>G	NP_036604.2:p.Leu109Trp
NR_073525.1:n.450T>G
NR_073525.2:n.450T>G
NR_073525.3:n.378T>G
NR_135905.1:n.763T>G
NR_135905.2:n.691T>G
NR_135906.1:n.204T>G
NR_135906.2:n.132T>G
NR_135907.1:n.450T>G
NR_135907.2:n.378T>G
NR_135908.1:n.204T>G
NR_135908.2:n.132T>G
NR_135909.1:n.568T>G
NR_135909.2:n.588T>G
NR_135910.1:n.875T>G
NR_135910.2:n.938T>G
NR_135911.1:n.954T>G
NR_135911.2:n.1058T>G
NR_135912.1:n.1513T>G
NR_135912.2:n.1617T>G
NR_135913.1:n.1200T>G
NR_135913.2:n.1304T>G
ENST00000250173.5:c.326T>G	ENSP00000250173.2:p.Leu109Trp
ENST00000518642.5:c.326T>G	ENSP00000428610.1:p.Leu109Trp
ENST00000519595.5:c.326T>G	ENSP00000429791.1:p.Leu109Trp
ENST00000520446.5:n.425T>G
ENST00000522584.5:c.*160T>G	ENSP00000429811.1:n.*160T>G
ENST00000523503.1:n.312T>G
ENST00000618342.1:c.326T>G	ENSP00000484802.1:p.Leu109Trp
ENST00000620350.4:c.326T>G	ENSP00000484634.1:p.Leu109Trp
XM_006716538.2:c.344T>G	XP_006716601.2:p.Leu115Trp
XM_006716538.3:c.344T>G	XP_006716601.2:p.Leu115Trp
XM_011516950.1:c.344T>G	XP_011515252.1:p.Leu115Trp
XM_011516950.2:c.344T>G	XP_011515252.1:p.Leu115Trp
XM_011516951.1:c.344T>G	XP_011515253.1:p.Leu115Trp
XM_011516952.1:c.80T>G	XP_011515254.1:p.Leu27Trp
XM_011516953.1:c.-35T>G	XP_011515255.1:n.-35T>G
XM_011516954.1:c.-35T>G	XP_011515256.1:n.-35T>G
XM_017013296.1:c.224T>G	XP_016868785.1:p.Leu75Trp
XM_017013297.1:c.-35T>G	XP_016868786.1:n.-35T>G
XM_017013298.1:c.-35T>G	XP_016868787.1:n.-35T>G
XR_428377.2:n.469T>G