Canonical Allele Identifier: CA372291941

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584680G>C (hg19) ; chr8:g.132572432G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572432G>C , CM000670.2:g.132572432G>C	GRCh38
NC_000008.10:g.133584680G>C , CM000670.1:g.133584680G>C	GRCh37
NC_000008.9:g.133653862G>C	NCBI36
NG_033068.1:g.108184C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1275C>G MANE Select	ENSP00000484634.1:p.Phe425Leu
ENST00000250173.5:c.*139C>G	ENSP00000250173.2:n.*139C>G
ENST00000518642.5:c.*139C>G	ENSP00000428610.1:n.*139C>G
ENST00000519595.5:c.1275C>G	ENSP00000429791.1:p.Phe425Leu
ENST00000522597.1:n.544C>G
ENST00000522789.5:c.495C>G	ENSP00000428015.1:p.Phe165Leu
ENST00000618342.1:c.1275C>G	ENSP00000484802.1:p.Phe425Leu
ENST00000620350.4:c.1275C>G	ENSP00000484634.1:p.Phe425Leu
NM_012472.4:c.1275C>G	NP_036604.2:p.Phe425Leu
NR_073525.1:n.1499C>G
XM_006716538.2:c.1293C>G	XP_006716601.2:p.Phe431Leu
XM_011516950.1:c.1233C>G	XP_011515252.1:p.Phe411Leu
XM_011516952.1:c.1029C>G	XP_011515254.1:p.Phe343Leu
XM_011516953.1:c.915C>G	XP_011515255.1:p.Phe305Leu
XM_011516954.1:c.915C>G	XP_011515256.1:p.Phe305Leu
XR_428377.2:n.1527C>G
NM_001321961.1:c.1215C>G	NP_001308890.1:p.Phe405Leu
NM_001321962.1:c.1029C>G	NP_001308891.1:p.Phe343Leu
NM_001321963.1:c.915C>G	NP_001308892.1:p.Phe305Leu
NM_001321964.1:c.915C>G	NP_001308893.1:p.Phe305Leu
NM_001321965.1:c.915C>G	NP_001308894.1:p.Phe305Leu
NM_001321966.1:c.855C>G	NP_001308895.1:p.Phe285Leu
NM_012472.5:c.1275C>G	NP_036604.2:p.Phe425Leu
NR_073525.2:n.1499C>G
NR_135905.1:n.1488C>G
NR_135906.1:n.929C>G
NR_135907.1:n.1175C>G
NR_135908.1:n.869C>G
NR_135909.1:n.1293C>G
NR_135910.1:n.1600C>G
NR_135911.1:n.1679C>G
NR_135912.1:n.2238C>G
NR_135913.1:n.1925C>G
XM_006716538.3:c.1293C>G	XP_006716601.2:p.Phe431Leu
XM_011516950.2:c.1233C>G	XP_011515252.1:p.Phe411Leu
XM_017013296.1:c.1173C>G	XP_016868785.1:p.Phe391Leu
XM_017013297.1:c.915C>G	XP_016868786.1:p.Phe305Leu
XM_017013298.1:c.915C>G	XP_016868787.1:p.Phe305Leu
NM_012472.6:c.1275C>G MANE Select	NP_036604.2:p.Phe425Leu
NM_001321961.2:c.1215C>G	NP_001308890.1:p.Phe405Leu
NM_001321962.2:c.1029C>G	NP_001308891.1:p.Phe343Leu
NM_001321963.2:c.915C>G	NP_001308892.1:p.Phe305Leu
NM_001321964.2:c.915C>G	NP_001308893.1:p.Phe305Leu
NM_001321965.2:c.915C>G	NP_001308894.1:p.Phe305Leu
NM_001321966.2:c.855C>G	NP_001308895.1:p.Phe285Leu
NR_073525.3:n.1427C>G
NR_135905.2:n.1416C>G
NR_135906.2:n.857C>G
NR_135907.2:n.1103C>G
NR_135908.2:n.797C>G
NR_135909.2:n.1313C>G
NR_135910.2:n.1663C>G
NR_135911.2:n.1783C>G
NR_135912.2:n.2342C>G
NR_135913.2:n.2029C>G