Canonical Allele Identifier: CA372291917

Gene: DNAAF11

Linked Data

• COSMIC: COSM6222364
• MyVariant Identifiers: chr8:g.133584669G>T (hg19) ; chr8:g.132572421G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572421G>T , CM000670.2:g.132572421G>T	GRCh38
NC_000008.10:g.133584669G>T , CM000670.1:g.133584669G>T	GRCh37
NC_000008.9:g.133653851G>T	NCBI36
NG_033068.1:g.108195C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1286C>A MANE Select	ENSP00000484634.1:p.Thr429Asn
ENST00000250173.5:c.*150C>A	ENSP00000250173.2:n.*150C>A
ENST00000518642.5:c.*150C>A	ENSP00000428610.1:n.*150C>A
ENST00000519595.5:c.1286C>A	ENSP00000429791.1:p.Thr429Asn
ENST00000522789.5:c.506C>A	ENSP00000428015.1:p.Thr169Asn
ENST00000618342.1:c.1286C>A	ENSP00000484802.1:p.Thr429Asn
ENST00000620350.4:c.1286C>A	ENSP00000484634.1:p.Thr429Asn
NM_012472.4:c.1286C>A	NP_036604.2:p.Thr429Asn
NR_073525.1:n.1510C>A
XM_006716538.2:c.1304C>A	XP_006716601.2:p.Thr435Asn
XM_011516950.1:c.1244C>A	XP_011515252.1:p.Thr415Asn
XM_011516952.1:c.1040C>A	XP_011515254.1:p.Thr347Asn
XM_011516953.1:c.926C>A	XP_011515255.1:p.Thr309Asn
XM_011516954.1:c.926C>A	XP_011515256.1:p.Thr309Asn
XR_428377.2:n.1538C>A
NM_001321961.1:c.1226C>A	NP_001308890.1:p.Thr409Asn
NM_001321962.1:c.1040C>A	NP_001308891.1:p.Thr347Asn
NM_001321963.1:c.926C>A	NP_001308892.1:p.Thr309Asn
NM_001321964.1:c.926C>A	NP_001308893.1:p.Thr309Asn
NM_001321965.1:c.926C>A	NP_001308894.1:p.Thr309Asn
NM_001321966.1:c.866C>A	NP_001308895.1:p.Thr289Asn
NM_012472.5:c.1286C>A	NP_036604.2:p.Thr429Asn
NR_073525.2:n.1510C>A
NR_135905.1:n.1499C>A
NR_135906.1:n.940C>A
NR_135907.1:n.1186C>A
NR_135908.1:n.880C>A
NR_135909.1:n.1304C>A
NR_135910.1:n.1611C>A
NR_135911.1:n.1690C>A
NR_135912.1:n.2249C>A
NR_135913.1:n.1936C>A
XM_006716538.3:c.1304C>A	XP_006716601.2:p.Thr435Asn
XM_011516950.2:c.1244C>A	XP_011515252.1:p.Thr415Asn
XM_017013296.1:c.1184C>A	XP_016868785.1:p.Thr395Asn
XM_017013297.1:c.926C>A	XP_016868786.1:p.Thr309Asn
XM_017013298.1:c.926C>A	XP_016868787.1:p.Thr309Asn
NM_012472.6:c.1286C>A MANE Select	NP_036604.2:p.Thr429Asn
NM_001321961.2:c.1226C>A	NP_001308890.1:p.Thr409Asn
NM_001321962.2:c.1040C>A	NP_001308891.1:p.Thr347Asn
NM_001321963.2:c.926C>A	NP_001308892.1:p.Thr309Asn
NM_001321964.2:c.926C>A	NP_001308893.1:p.Thr309Asn
NM_001321965.2:c.926C>A	NP_001308894.1:p.Thr309Asn
NM_001321966.2:c.866C>A	NP_001308895.1:p.Thr289Asn
NR_073525.3:n.1438C>A
NR_135905.2:n.1427C>A
NR_135906.2:n.868C>A
NR_135907.2:n.1114C>A
NR_135908.2:n.808C>A
NR_135909.2:n.1324C>A
NR_135910.2:n.1674C>A
NR_135911.2:n.1794C>A
NR_135912.2:n.2353C>A
NR_135913.2:n.2040C>A