Canonical Allele Identifier: CA372291948

Gene: DNAAF11

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1273T>A MANE Select	ENSP00000484634.1:p.Phe425Ile
ENST00000250173.5:c.*137T>A	ENSP00000250173.2:n.*137T>A
ENST00000518642.5:c.*137T>A	ENSP00000428610.1:n.*137T>A
ENST00000519595.5:c.1273T>A	ENSP00000429791.1:p.Phe425Ile
ENST00000522597.1:n.542T>A
ENST00000522789.5:c.493T>A	ENSP00000428015.1:p.Phe165Ile
ENST00000618342.1:c.1273T>A	ENSP00000484802.1:p.Phe425Ile
ENST00000620350.4:c.1273T>A	ENSP00000484634.1:p.Phe425Ile
NM_012472.4:c.1273T>A	NP_036604.2:p.Phe425Ile
NR_073525.1:n.1497T>A
XM_006716538.2:c.1291T>A	XP_006716601.2:p.Phe431Ile
XM_011516950.1:c.1231T>A	XP_011515252.1:p.Phe411Ile
XM_011516952.1:c.1027T>A	XP_011515254.1:p.Phe343Ile
XM_011516953.1:c.913T>A	XP_011515255.1:p.Phe305Ile
XM_011516954.1:c.913T>A	XP_011515256.1:p.Phe305Ile
XR_428377.2:n.1525T>A
NM_001321961.1:c.1213T>A	NP_001308890.1:p.Phe405Ile
NM_001321962.1:c.1027T>A	NP_001308891.1:p.Phe343Ile
NM_001321963.1:c.913T>A	NP_001308892.1:p.Phe305Ile
NM_001321964.1:c.913T>A	NP_001308893.1:p.Phe305Ile
NM_001321965.1:c.913T>A	NP_001308894.1:p.Phe305Ile
NM_001321966.1:c.853T>A	NP_001308895.1:p.Phe285Ile
NM_012472.5:c.1273T>A	NP_036604.2:p.Phe425Ile
NR_073525.2:n.1497T>A
NR_135905.1:n.1486T>A
NR_135906.1:n.927T>A
NR_135907.1:n.1173T>A
NR_135908.1:n.867T>A
NR_135909.1:n.1291T>A
NR_135910.1:n.1598T>A
NR_135911.1:n.1677T>A
NR_135912.1:n.2236T>A
NR_135913.1:n.1923T>A
XM_006716538.3:c.1291T>A	XP_006716601.2:p.Phe431Ile
XM_011516950.2:c.1231T>A	XP_011515252.1:p.Phe411Ile
XM_017013296.1:c.1171T>A	XP_016868785.1:p.Phe391Ile
XM_017013297.1:c.913T>A	XP_016868786.1:p.Phe305Ile
XM_017013298.1:c.913T>A	XP_016868787.1:p.Phe305Ile
NM_012472.6:c.1273T>A MANE Select	NP_036604.2:p.Phe425Ile
NM_001321961.2:c.1213T>A	NP_001308890.1:p.Phe405Ile
NM_001321962.2:c.1027T>A	NP_001308891.1:p.Phe343Ile
NM_001321963.2:c.913T>A	NP_001308892.1:p.Phe305Ile
NM_001321964.2:c.913T>A	NP_001308893.1:p.Phe305Ile
NM_001321965.2:c.913T>A	NP_001308894.1:p.Phe305Ile
NM_001321966.2:c.853T>A	NP_001308895.1:p.Phe285Ile
NR_073525.3:n.1425T>A
NR_135905.2:n.1414T>A
NR_135906.2:n.855T>A
NR_135907.2:n.1101T>A
NR_135908.2:n.795T>A
NR_135909.2:n.1311T>A
NR_135910.2:n.1661T>A
NR_135911.2:n.1781T>A
NR_135912.2:n.2340T>A
NR_135913.2:n.2027T>A