Canonical Allele Identifier: CA372291864

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584646G>A (hg19) ; chr8:g.132572398G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572398G>A , CM000670.2:g.132572398G>A	GRCh38
NC_000008.10:g.133584646G>A , CM000670.1:g.133584646G>A	GRCh37
NC_000008.9:g.133653828G>A	NCBI36
NG_033068.1:g.108218C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1309C>T MANE Select	ENSP00000484634.1:p.His437Tyr
ENST00000250173.5:c.*173C>T	ENSP00000250173.2:n.*173C>T
ENST00000518642.5:c.*173C>T	ENSP00000428610.1:n.*173C>T
ENST00000519595.5:c.1309C>T	ENSP00000429791.1:p.His437Tyr
ENST00000522789.5:c.529C>T	ENSP00000428015.1:p.His177Tyr
ENST00000618342.1:c.1309C>T	ENSP00000484802.1:p.His437Tyr
ENST00000620350.4:c.1309C>T	ENSP00000484634.1:p.His437Tyr
NM_012472.4:c.1309C>T	NP_036604.2:p.His437Tyr
NR_073525.1:n.1533C>T
XM_006716538.2:c.1327C>T	XP_006716601.2:p.His443Tyr
XM_011516950.1:c.1267C>T	XP_011515252.1:p.His423Tyr
XM_011516952.1:c.1063C>T	XP_011515254.1:p.His355Tyr
XM_011516953.1:c.949C>T	XP_011515255.1:p.His317Tyr
XM_011516954.1:c.949C>T	XP_011515256.1:p.His317Tyr
XR_428377.2:n.1561C>T
NM_001321961.1:c.1249C>T	NP_001308890.1:p.His417Tyr
NM_001321962.1:c.1063C>T	NP_001308891.1:p.His355Tyr
NM_001321963.1:c.949C>T	NP_001308892.1:p.His317Tyr
NM_001321964.1:c.949C>T	NP_001308893.1:p.His317Tyr
NM_001321965.1:c.949C>T	NP_001308894.1:p.His317Tyr
NM_001321966.1:c.889C>T	NP_001308895.1:p.His297Tyr
NM_012472.5:c.1309C>T	NP_036604.2:p.His437Tyr
NR_073525.2:n.1533C>T
NR_135905.1:n.1522C>T
NR_135906.1:n.963C>T
NR_135907.1:n.1209C>T
NR_135908.1:n.903C>T
NR_135909.1:n.1327C>T
NR_135910.1:n.1634C>T
NR_135911.1:n.1713C>T
NR_135912.1:n.2272C>T
NR_135913.1:n.1959C>T
XM_006716538.3:c.1327C>T	XP_006716601.2:p.His443Tyr
XM_011516950.2:c.1267C>T	XP_011515252.1:p.His423Tyr
XM_017013296.1:c.1207C>T	XP_016868785.1:p.His403Tyr
XM_017013297.1:c.949C>T	XP_016868786.1:p.His317Tyr
XM_017013298.1:c.949C>T	XP_016868787.1:p.His317Tyr
NM_012472.6:c.1309C>T MANE Select	NP_036604.2:p.His437Tyr
NM_001321961.2:c.1249C>T	NP_001308890.1:p.His417Tyr
NM_001321962.2:c.1063C>T	NP_001308891.1:p.His355Tyr
NM_001321963.2:c.949C>T	NP_001308892.1:p.His317Tyr
NM_001321964.2:c.949C>T	NP_001308893.1:p.His317Tyr
NM_001321965.2:c.949C>T	NP_001308894.1:p.His317Tyr
NM_001321966.2:c.889C>T	NP_001308895.1:p.His297Tyr
NR_073525.3:n.1461C>T
NR_135905.2:n.1450C>T
NR_135906.2:n.891C>T
NR_135907.2:n.1137C>T
NR_135908.2:n.831C>T
NR_135909.2:n.1347C>T
NR_135910.2:n.1697C>T
NR_135911.2:n.1817C>T
NR_135912.2:n.2376C>T
NR_135913.2:n.2063C>T