Canonical Allele Identifier: CA372291688

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584564G>T (hg19) ; chr8:g.132572316G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572316G>T , CM000670.2:g.132572316G>T	GRCh38
NC_000008.10:g.133584564G>T , CM000670.1:g.133584564G>T	GRCh37
NC_000008.9:g.133653746G>T	NCBI36
NG_033068.1:g.108300C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1391C>A MANE Select	ENSP00000484634.1:p.Pro464Gln
ENST00000250173.5:c.*255C>A	ENSP00000250173.2:n.*255C>A
ENST00000518642.5:c.*255C>A	ENSP00000428610.1:n.*255C>A
ENST00000519595.5:c.1391C>A	ENSP00000429791.1:p.Pro464Gln
ENST00000522789.5:c.611C>A	ENSP00000428015.1:p.Pro204Gln
ENST00000618342.1:c.1391C>A	ENSP00000484802.1:p.Pro464Gln
ENST00000620350.4:c.1391C>A	ENSP00000484634.1:p.Pro464Gln
NM_012472.4:c.1391C>A	NP_036604.2:p.Pro464Gln
NR_073525.1:n.1615C>A
XM_006716538.2:c.1409C>A	XP_006716601.2:p.Pro470Gln
XM_011516950.1:c.1349C>A	XP_011515252.1:p.Pro450Gln
XM_011516952.1:c.1145C>A	XP_011515254.1:p.Pro382Gln
XM_011516953.1:c.1031C>A	XP_011515255.1:p.Pro344Gln
XM_011516954.1:c.1031C>A	XP_011515256.1:p.Pro344Gln
XR_428377.2:n.1643C>A
NM_001321961.1:c.1331C>A	NP_001308890.1:p.Pro444Gln
NM_001321962.1:c.1145C>A	NP_001308891.1:p.Pro382Gln
NM_001321963.1:c.1031C>A	NP_001308892.1:p.Pro344Gln
NM_001321964.1:c.1031C>A	NP_001308893.1:p.Pro344Gln
NM_001321965.1:c.1031C>A	NP_001308894.1:p.Pro344Gln
NM_001321966.1:c.971C>A	NP_001308895.1:p.Pro324Gln
NM_012472.5:c.1391C>A	NP_036604.2:p.Pro464Gln
NR_073525.2:n.1615C>A
NR_135905.1:n.1604C>A
NR_135906.1:n.1045C>A
NR_135907.1:n.1291C>A
NR_135908.1:n.985C>A
NR_135909.1:n.1409C>A
NR_135910.1:n.1716C>A
NR_135911.1:n.1795C>A
NR_135912.1:n.2354C>A
NR_135913.1:n.2041C>A
XM_006716538.3:c.1409C>A	XP_006716601.2:p.Pro470Gln
XM_011516950.2:c.1349C>A	XP_011515252.1:p.Pro450Gln
XM_017013296.1:c.1289C>A	XP_016868785.1:p.Pro430Gln
XM_017013297.1:c.1031C>A	XP_016868786.1:p.Pro344Gln
XM_017013298.1:c.1031C>A	XP_016868787.1:p.Pro344Gln
NM_012472.6:c.1391C>A MANE Select	NP_036604.2:p.Pro464Gln
NM_001321961.2:c.1331C>A	NP_001308890.1:p.Pro444Gln
NM_001321962.2:c.1145C>A	NP_001308891.1:p.Pro382Gln
NM_001321963.2:c.1031C>A	NP_001308892.1:p.Pro344Gln
NM_001321964.2:c.1031C>A	NP_001308893.1:p.Pro344Gln
NM_001321965.2:c.1031C>A	NP_001308894.1:p.Pro344Gln
NM_001321966.2:c.971C>A	NP_001308895.1:p.Pro324Gln
NR_073525.3:n.1543C>A
NR_135905.2:n.1532C>A
NR_135906.2:n.973C>A
NR_135907.2:n.1219C>A
NR_135908.2:n.913C>A
NR_135909.2:n.1429C>A
NR_135910.2:n.1779C>A
NR_135911.2:n.1899C>A
NR_135912.2:n.2458C>A
NR_135913.2:n.2145C>A