Canonical Allele Identifier: CA372291916

Gene: DNAAF11

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1286C>G MANE Select	ENSP00000484634.1:p.Thr429Ser
ENST00000250173.5:c.*150C>G	ENSP00000250173.2:n.*150C>G
ENST00000518642.5:c.*150C>G	ENSP00000428610.1:n.*150C>G
ENST00000519595.5:c.1286C>G	ENSP00000429791.1:p.Thr429Ser
ENST00000522789.5:c.506C>G	ENSP00000428015.1:p.Thr169Ser
ENST00000618342.1:c.1286C>G	ENSP00000484802.1:p.Thr429Ser
ENST00000620350.4:c.1286C>G	ENSP00000484634.1:p.Thr429Ser
NM_012472.4:c.1286C>G	NP_036604.2:p.Thr429Ser
NR_073525.1:n.1510C>G
XM_006716538.2:c.1304C>G	XP_006716601.2:p.Thr435Ser
XM_011516950.1:c.1244C>G	XP_011515252.1:p.Thr415Ser
XM_011516952.1:c.1040C>G	XP_011515254.1:p.Thr347Ser
XM_011516953.1:c.926C>G	XP_011515255.1:p.Thr309Ser
XM_011516954.1:c.926C>G	XP_011515256.1:p.Thr309Ser
XR_428377.2:n.1538C>G
NM_001321961.1:c.1226C>G	NP_001308890.1:p.Thr409Ser
NM_001321962.1:c.1040C>G	NP_001308891.1:p.Thr347Ser
NM_001321963.1:c.926C>G	NP_001308892.1:p.Thr309Ser
NM_001321964.1:c.926C>G	NP_001308893.1:p.Thr309Ser
NM_001321965.1:c.926C>G	NP_001308894.1:p.Thr309Ser
NM_001321966.1:c.866C>G	NP_001308895.1:p.Thr289Ser
NM_012472.5:c.1286C>G	NP_036604.2:p.Thr429Ser
NR_073525.2:n.1510C>G
NR_135905.1:n.1499C>G
NR_135906.1:n.940C>G
NR_135907.1:n.1186C>G
NR_135908.1:n.880C>G
NR_135909.1:n.1304C>G
NR_135910.1:n.1611C>G
NR_135911.1:n.1690C>G
NR_135912.1:n.2249C>G
NR_135913.1:n.1936C>G
XM_006716538.3:c.1304C>G	XP_006716601.2:p.Thr435Ser
XM_011516950.2:c.1244C>G	XP_011515252.1:p.Thr415Ser
XM_017013296.1:c.1184C>G	XP_016868785.1:p.Thr395Ser
XM_017013297.1:c.926C>G	XP_016868786.1:p.Thr309Ser
XM_017013298.1:c.926C>G	XP_016868787.1:p.Thr309Ser
NM_012472.6:c.1286C>G MANE Select	NP_036604.2:p.Thr429Ser
NM_001321961.2:c.1226C>G	NP_001308890.1:p.Thr409Ser
NM_001321962.2:c.1040C>G	NP_001308891.1:p.Thr347Ser
NM_001321963.2:c.926C>G	NP_001308892.1:p.Thr309Ser
NM_001321964.2:c.926C>G	NP_001308893.1:p.Thr309Ser
NM_001321965.2:c.926C>G	NP_001308894.1:p.Thr309Ser
NM_001321966.2:c.866C>G	NP_001308895.1:p.Thr289Ser
NR_073525.3:n.1438C>G
NR_135905.2:n.1427C>G
NR_135906.2:n.868C>G
NR_135907.2:n.1114C>G
NR_135908.2:n.808C>G
NR_135909.2:n.1324C>G
NR_135910.2:n.1674C>G
NR_135911.2:n.1794C>G
NR_135912.2:n.2353C>G
NR_135913.2:n.2040C>G