Canonical Allele Identifier: CA372291793

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584609G>T (hg19) ; chr8:g.132572361G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572361G>T , CM000670.2:g.132572361G>T	GRCh38
NC_000008.10:g.133584609G>T , CM000670.1:g.133584609G>T	GRCh37
NC_000008.9:g.133653791G>T	NCBI36
NG_033068.1:g.108255C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1346C>A MANE Select	ENSP00000484634.1:p.Pro449Gln
ENST00000250173.5:c.*210C>A	ENSP00000250173.2:n.*210C>A
ENST00000518642.5:c.*210C>A	ENSP00000428610.1:n.*210C>A
ENST00000519595.5:c.1346C>A	ENSP00000429791.1:p.Pro449Gln
ENST00000522789.5:c.566C>A	ENSP00000428015.1:p.Pro189Gln
ENST00000618342.1:c.1346C>A	ENSP00000484802.1:p.Pro449Gln
ENST00000620350.4:c.1346C>A	ENSP00000484634.1:p.Pro449Gln
NM_012472.4:c.1346C>A	NP_036604.2:p.Pro449Gln
NR_073525.1:n.1570C>A
XM_006716538.2:c.1364C>A	XP_006716601.2:p.Pro455Gln
XM_011516950.1:c.1304C>A	XP_011515252.1:p.Pro435Gln
XM_011516952.1:c.1100C>A	XP_011515254.1:p.Pro367Gln
XM_011516953.1:c.986C>A	XP_011515255.1:p.Pro329Gln
XM_011516954.1:c.986C>A	XP_011515256.1:p.Pro329Gln
XR_428377.2:n.1598C>A
NM_001321961.1:c.1286C>A	NP_001308890.1:p.Pro429Gln
NM_001321962.1:c.1100C>A	NP_001308891.1:p.Pro367Gln
NM_001321963.1:c.986C>A	NP_001308892.1:p.Pro329Gln
NM_001321964.1:c.986C>A	NP_001308893.1:p.Pro329Gln
NM_001321965.1:c.986C>A	NP_001308894.1:p.Pro329Gln
NM_001321966.1:c.926C>A	NP_001308895.1:p.Pro309Gln
NM_012472.5:c.1346C>A	NP_036604.2:p.Pro449Gln
NR_073525.2:n.1570C>A
NR_135905.1:n.1559C>A
NR_135906.1:n.1000C>A
NR_135907.1:n.1246C>A
NR_135908.1:n.940C>A
NR_135909.1:n.1364C>A
NR_135910.1:n.1671C>A
NR_135911.1:n.1750C>A
NR_135912.1:n.2309C>A
NR_135913.1:n.1996C>A
XM_006716538.3:c.1364C>A	XP_006716601.2:p.Pro455Gln
XM_011516950.2:c.1304C>A	XP_011515252.1:p.Pro435Gln
XM_017013296.1:c.1244C>A	XP_016868785.1:p.Pro415Gln
XM_017013297.1:c.986C>A	XP_016868786.1:p.Pro329Gln
XM_017013298.1:c.986C>A	XP_016868787.1:p.Pro329Gln
NM_012472.6:c.1346C>A MANE Select	NP_036604.2:p.Pro449Gln
NM_001321961.2:c.1286C>A	NP_001308890.1:p.Pro429Gln
NM_001321962.2:c.1100C>A	NP_001308891.1:p.Pro367Gln
NM_001321963.2:c.986C>A	NP_001308892.1:p.Pro329Gln
NM_001321964.2:c.986C>A	NP_001308893.1:p.Pro329Gln
NM_001321965.2:c.986C>A	NP_001308894.1:p.Pro329Gln
NM_001321966.2:c.926C>A	NP_001308895.1:p.Pro309Gln
NR_073525.3:n.1498C>A
NR_135905.2:n.1487C>A
NR_135906.2:n.928C>A
NR_135907.2:n.1174C>A
NR_135908.2:n.868C>A
NR_135909.2:n.1384C>A
NR_135910.2:n.1734C>A
NR_135911.2:n.1854C>A
NR_135912.2:n.2413C>A
NR_135913.2:n.2100C>A