Canonical Allele Identifier: CA372292006

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584709G>T (hg19) ; chr8:g.132572461G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572461G>T , CM000670.2:g.132572461G>T	GRCh38
NC_000008.10:g.133584709G>T , CM000670.1:g.133584709G>T	GRCh37
NC_000008.9:g.133653891G>T	NCBI36
NG_033068.1:g.108155C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1246C>A MANE Select	ENSP00000484634.1:p.Leu416Ile
ENST00000250173.5:c.*110C>A	ENSP00000250173.2:n.*110C>A
ENST00000518642.5:c.*110C>A	ENSP00000428610.1:n.*110C>A
ENST00000519595.5:c.1246C>A	ENSP00000429791.1:p.Leu416Ile
ENST00000522597.1:n.515C>A
ENST00000522789.5:c.466C>A	ENSP00000428015.1:p.Leu156Ile
ENST00000618342.1:c.1246C>A	ENSP00000484802.1:p.Leu416Ile
ENST00000620350.4:c.1246C>A	ENSP00000484634.1:p.Leu416Ile
NM_012472.4:c.1246C>A	NP_036604.2:p.Leu416Ile
NR_073525.1:n.1470C>A
XM_006716538.2:c.1264C>A	XP_006716601.2:p.Leu422Ile
XM_011516950.1:c.1204C>A	XP_011515252.1:p.Leu402Ile
XM_011516952.1:c.1000C>A	XP_011515254.1:p.Leu334Ile
XM_011516953.1:c.886C>A	XP_011515255.1:p.Leu296Ile
XM_011516954.1:c.886C>A	XP_011515256.1:p.Leu296Ile
XR_428377.2:n.1498C>A
NM_001321961.1:c.1186C>A	NP_001308890.1:p.Leu396Ile
NM_001321962.1:c.1000C>A	NP_001308891.1:p.Leu334Ile
NM_001321963.1:c.886C>A	NP_001308892.1:p.Leu296Ile
NM_001321964.1:c.886C>A	NP_001308893.1:p.Leu296Ile
NM_001321965.1:c.886C>A	NP_001308894.1:p.Leu296Ile
NM_001321966.1:c.826C>A	NP_001308895.1:p.Leu276Ile
NM_012472.5:c.1246C>A	NP_036604.2:p.Leu416Ile
NR_073525.2:n.1470C>A
NR_135905.1:n.1459C>A
NR_135906.1:n.900C>A
NR_135907.1:n.1146C>A
NR_135908.1:n.840C>A
NR_135909.1:n.1264C>A
NR_135910.1:n.1571C>A
NR_135911.1:n.1650C>A
NR_135912.1:n.2209C>A
NR_135913.1:n.1896C>A
XM_006716538.3:c.1264C>A	XP_006716601.2:p.Leu422Ile
XM_011516950.2:c.1204C>A	XP_011515252.1:p.Leu402Ile
XM_017013296.1:c.1144C>A	XP_016868785.1:p.Leu382Ile
XM_017013297.1:c.886C>A	XP_016868786.1:p.Leu296Ile
XM_017013298.1:c.886C>A	XP_016868787.1:p.Leu296Ile
NM_012472.6:c.1246C>A MANE Select	NP_036604.2:p.Leu416Ile
NM_001321961.2:c.1186C>A	NP_001308890.1:p.Leu396Ile
NM_001321962.2:c.1000C>A	NP_001308891.1:p.Leu334Ile
NM_001321963.2:c.886C>A	NP_001308892.1:p.Leu296Ile
NM_001321964.2:c.886C>A	NP_001308893.1:p.Leu296Ile
NM_001321965.2:c.886C>A	NP_001308894.1:p.Leu296Ile
NM_001321966.2:c.826C>A	NP_001308895.1:p.Leu276Ile
NR_073525.3:n.1398C>A
NR_135905.2:n.1387C>A
NR_135906.2:n.828C>A
NR_135907.2:n.1074C>A
NR_135908.2:n.768C>A
NR_135909.2:n.1284C>A
NR_135910.2:n.1634C>A
NR_135911.2:n.1754C>A
NR_135912.2:n.2313C>A
NR_135913.2:n.2000C>A