Canonical Allele Identifier: CA372291849

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584639G>A (hg19) ; chr8:g.132572391G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572391G>A , CM000670.2:g.132572391G>A	GRCh38
NC_000008.10:g.133584639G>A , CM000670.1:g.133584639G>A	GRCh37
NC_000008.9:g.133653821G>A	NCBI36
NG_033068.1:g.108225C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1316C>T MANE Select	ENSP00000484634.1:p.Pro439Leu
ENST00000250173.5:c.*180C>T	ENSP00000250173.2:n.*180C>T
ENST00000518642.5:c.*180C>T	ENSP00000428610.1:n.*180C>T
ENST00000519595.5:c.1316C>T	ENSP00000429791.1:p.Pro439Leu
ENST00000522789.5:c.536C>T	ENSP00000428015.1:p.Pro179Leu
ENST00000618342.1:c.1316C>T	ENSP00000484802.1:p.Pro439Leu
ENST00000620350.4:c.1316C>T	ENSP00000484634.1:p.Pro439Leu
NM_012472.4:c.1316C>T	NP_036604.2:p.Pro439Leu
NR_073525.1:n.1540C>T
XM_006716538.2:c.1334C>T	XP_006716601.2:p.Pro445Leu
XM_011516950.1:c.1274C>T	XP_011515252.1:p.Pro425Leu
XM_011516952.1:c.1070C>T	XP_011515254.1:p.Pro357Leu
XM_011516953.1:c.956C>T	XP_011515255.1:p.Pro319Leu
XM_011516954.1:c.956C>T	XP_011515256.1:p.Pro319Leu
XR_428377.2:n.1568C>T
NM_001321961.1:c.1256C>T	NP_001308890.1:p.Pro419Leu
NM_001321962.1:c.1070C>T	NP_001308891.1:p.Pro357Leu
NM_001321963.1:c.956C>T	NP_001308892.1:p.Pro319Leu
NM_001321964.1:c.956C>T	NP_001308893.1:p.Pro319Leu
NM_001321965.1:c.956C>T	NP_001308894.1:p.Pro319Leu
NM_001321966.1:c.896C>T	NP_001308895.1:p.Pro299Leu
NM_012472.5:c.1316C>T	NP_036604.2:p.Pro439Leu
NR_073525.2:n.1540C>T
NR_135905.1:n.1529C>T
NR_135906.1:n.970C>T
NR_135907.1:n.1216C>T
NR_135908.1:n.910C>T
NR_135909.1:n.1334C>T
NR_135910.1:n.1641C>T
NR_135911.1:n.1720C>T
NR_135912.1:n.2279C>T
NR_135913.1:n.1966C>T
XM_006716538.3:c.1334C>T	XP_006716601.2:p.Pro445Leu
XM_011516950.2:c.1274C>T	XP_011515252.1:p.Pro425Leu
XM_017013296.1:c.1214C>T	XP_016868785.1:p.Pro405Leu
XM_017013297.1:c.956C>T	XP_016868786.1:p.Pro319Leu
XM_017013298.1:c.956C>T	XP_016868787.1:p.Pro319Leu
NM_012472.6:c.1316C>T MANE Select	NP_036604.2:p.Pro439Leu
NM_001321961.2:c.1256C>T	NP_001308890.1:p.Pro419Leu
NM_001321962.2:c.1070C>T	NP_001308891.1:p.Pro357Leu
NM_001321963.2:c.956C>T	NP_001308892.1:p.Pro319Leu
NM_001321964.2:c.956C>T	NP_001308893.1:p.Pro319Leu
NM_001321965.2:c.956C>T	NP_001308894.1:p.Pro319Leu
NM_001321966.2:c.896C>T	NP_001308895.1:p.Pro299Leu
NR_073525.3:n.1468C>T
NR_135905.2:n.1457C>T
NR_135906.2:n.898C>T
NR_135907.2:n.1144C>T
NR_135908.2:n.838C>T
NR_135909.2:n.1354C>T
NR_135910.2:n.1704C>T
NR_135911.2:n.1824C>T
NR_135912.2:n.2383C>T
NR_135913.2:n.2070C>T