Canonical Allele Identifier: CA372292004

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584708A>T (hg19) ; chr8:g.132572460A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572460A>T , CM000670.2:g.132572460A>T	GRCh38
NC_000008.10:g.133584708A>T , CM000670.1:g.133584708A>T	GRCh37
NC_000008.9:g.133653890A>T	NCBI36
NG_033068.1:g.108156T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1247T>A MANE Select	ENSP00000484634.1:p.Leu416Gln
ENST00000250173.5:c.*111T>A	ENSP00000250173.2:n.*111T>A
ENST00000518642.5:c.*111T>A	ENSP00000428610.1:n.*111T>A
ENST00000519595.5:c.1247T>A	ENSP00000429791.1:p.Leu416Gln
ENST00000522597.1:n.516T>A
ENST00000522789.5:c.467T>A	ENSP00000428015.1:p.Leu156Gln
ENST00000618342.1:c.1247T>A	ENSP00000484802.1:p.Leu416Gln
ENST00000620350.4:c.1247T>A	ENSP00000484634.1:p.Leu416Gln
NM_012472.4:c.1247T>A	NP_036604.2:p.Leu416Gln
NR_073525.1:n.1471T>A
XM_006716538.2:c.1265T>A	XP_006716601.2:p.Leu422Gln
XM_011516950.1:c.1205T>A	XP_011515252.1:p.Leu402Gln
XM_011516952.1:c.1001T>A	XP_011515254.1:p.Leu334Gln
XM_011516953.1:c.887T>A	XP_011515255.1:p.Leu296Gln
XM_011516954.1:c.887T>A	XP_011515256.1:p.Leu296Gln
XR_428377.2:n.1499T>A
NM_001321961.1:c.1187T>A	NP_001308890.1:p.Leu396Gln
NM_001321962.1:c.1001T>A	NP_001308891.1:p.Leu334Gln
NM_001321963.1:c.887T>A	NP_001308892.1:p.Leu296Gln
NM_001321964.1:c.887T>A	NP_001308893.1:p.Leu296Gln
NM_001321965.1:c.887T>A	NP_001308894.1:p.Leu296Gln
NM_001321966.1:c.827T>A	NP_001308895.1:p.Leu276Gln
NM_012472.5:c.1247T>A	NP_036604.2:p.Leu416Gln
NR_073525.2:n.1471T>A
NR_135905.1:n.1460T>A
NR_135906.1:n.901T>A
NR_135907.1:n.1147T>A
NR_135908.1:n.841T>A
NR_135909.1:n.1265T>A
NR_135910.1:n.1572T>A
NR_135911.1:n.1651T>A
NR_135912.1:n.2210T>A
NR_135913.1:n.1897T>A
XM_006716538.3:c.1265T>A	XP_006716601.2:p.Leu422Gln
XM_011516950.2:c.1205T>A	XP_011515252.1:p.Leu402Gln
XM_017013296.1:c.1145T>A	XP_016868785.1:p.Leu382Gln
XM_017013297.1:c.887T>A	XP_016868786.1:p.Leu296Gln
XM_017013298.1:c.887T>A	XP_016868787.1:p.Leu296Gln
NM_012472.6:c.1247T>A MANE Select	NP_036604.2:p.Leu416Gln
NM_001321961.2:c.1187T>A	NP_001308890.1:p.Leu396Gln
NM_001321962.2:c.1001T>A	NP_001308891.1:p.Leu334Gln
NM_001321963.2:c.887T>A	NP_001308892.1:p.Leu296Gln
NM_001321964.2:c.887T>A	NP_001308893.1:p.Leu296Gln
NM_001321965.2:c.887T>A	NP_001308894.1:p.Leu296Gln
NM_001321966.2:c.827T>A	NP_001308895.1:p.Leu276Gln
NR_073525.3:n.1399T>A
NR_135905.2:n.1388T>A
NR_135906.2:n.829T>A
NR_135907.2:n.1075T>A
NR_135908.2:n.769T>A
NR_135909.2:n.1285T>A
NR_135910.2:n.1635T>A
NR_135911.2:n.1755T>A
NR_135912.2:n.2314T>A
NR_135913.2:n.2001T>A