Canonical Allele Identifier: CA372291946

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584682A>C (hg19) ; chr8:g.132572434A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572434A>C , CM000670.2:g.132572434A>C	GRCh38
NC_000008.10:g.133584682A>C , CM000670.1:g.133584682A>C	GRCh37
NC_000008.9:g.133653864A>C	NCBI36
NG_033068.1:g.108182T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1273T>G MANE Select	ENSP00000484634.1:p.Phe425Val
ENST00000250173.5:c.*137T>G	ENSP00000250173.2:n.*137T>G
ENST00000518642.5:c.*137T>G	ENSP00000428610.1:n.*137T>G
ENST00000519595.5:c.1273T>G	ENSP00000429791.1:p.Phe425Val
ENST00000522597.1:n.542T>G
ENST00000522789.5:c.493T>G	ENSP00000428015.1:p.Phe165Val
ENST00000618342.1:c.1273T>G	ENSP00000484802.1:p.Phe425Val
ENST00000620350.4:c.1273T>G	ENSP00000484634.1:p.Phe425Val
NM_012472.4:c.1273T>G	NP_036604.2:p.Phe425Val
NR_073525.1:n.1497T>G
XM_006716538.2:c.1291T>G	XP_006716601.2:p.Phe431Val
XM_011516950.1:c.1231T>G	XP_011515252.1:p.Phe411Val
XM_011516952.1:c.1027T>G	XP_011515254.1:p.Phe343Val
XM_011516953.1:c.913T>G	XP_011515255.1:p.Phe305Val
XM_011516954.1:c.913T>G	XP_011515256.1:p.Phe305Val
XR_428377.2:n.1525T>G
NM_001321961.1:c.1213T>G	NP_001308890.1:p.Phe405Val
NM_001321962.1:c.1027T>G	NP_001308891.1:p.Phe343Val
NM_001321963.1:c.913T>G	NP_001308892.1:p.Phe305Val
NM_001321964.1:c.913T>G	NP_001308893.1:p.Phe305Val
NM_001321965.1:c.913T>G	NP_001308894.1:p.Phe305Val
NM_001321966.1:c.853T>G	NP_001308895.1:p.Phe285Val
NM_012472.5:c.1273T>G	NP_036604.2:p.Phe425Val
NR_073525.2:n.1497T>G
NR_135905.1:n.1486T>G
NR_135906.1:n.927T>G
NR_135907.1:n.1173T>G
NR_135908.1:n.867T>G
NR_135909.1:n.1291T>G
NR_135910.1:n.1598T>G
NR_135911.1:n.1677T>G
NR_135912.1:n.2236T>G
NR_135913.1:n.1923T>G
XM_006716538.3:c.1291T>G	XP_006716601.2:p.Phe431Val
XM_011516950.2:c.1231T>G	XP_011515252.1:p.Phe411Val
XM_017013296.1:c.1171T>G	XP_016868785.1:p.Phe391Val
XM_017013297.1:c.913T>G	XP_016868786.1:p.Phe305Val
XM_017013298.1:c.913T>G	XP_016868787.1:p.Phe305Val
NM_012472.6:c.1273T>G MANE Select	NP_036604.2:p.Phe425Val
NM_001321961.2:c.1213T>G	NP_001308890.1:p.Phe405Val
NM_001321962.2:c.1027T>G	NP_001308891.1:p.Phe343Val
NM_001321963.2:c.913T>G	NP_001308892.1:p.Phe305Val
NM_001321964.2:c.913T>G	NP_001308893.1:p.Phe305Val
NM_001321965.2:c.913T>G	NP_001308894.1:p.Phe305Val
NM_001321966.2:c.853T>G	NP_001308895.1:p.Phe285Val
NR_073525.3:n.1425T>G
NR_135905.2:n.1414T>G
NR_135906.2:n.855T>G
NR_135907.2:n.1101T>G
NR_135908.2:n.795T>G
NR_135909.2:n.1311T>G
NR_135910.2:n.1661T>G
NR_135911.2:n.1781T>G
NR_135912.2:n.2340T>G
NR_135913.2:n.2027T>G