Canonical Allele Identifier: CA372292048

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584726C>A (hg19) ; chr8:g.132572478C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572478C>A , CM000670.2:g.132572478C>A	GRCh38
NC_000008.10:g.133584726C>A , CM000670.1:g.133584726C>A	GRCh37
NC_000008.9:g.133653908C>A	NCBI36
NG_033068.1:g.108138G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1229G>T MANE Select	ENSP00000484634.1:p.Ser410Ile
ENST00000250173.5:c.*93G>T	ENSP00000250173.2:n.*93G>T
ENST00000518642.5:c.*93G>T	ENSP00000428610.1:n.*93G>T
ENST00000519595.5:c.1229G>T	ENSP00000429791.1:p.Ser410Ile
ENST00000522597.1:n.498G>T
ENST00000522789.5:c.449G>T	ENSP00000428015.1:p.Ser150Ile
ENST00000618342.1:c.1229G>T	ENSP00000484802.1:p.Ser410Ile
ENST00000620350.4:c.1229G>T	ENSP00000484634.1:p.Ser410Ile
NM_012472.4:c.1229G>T	NP_036604.2:p.Ser410Ile
NR_073525.1:n.1453G>T
XM_006716538.2:c.1247G>T	XP_006716601.2:p.Ser416Ile
XM_011516950.1:c.1187G>T	XP_011515252.1:p.Ser396Ile
XM_011516952.1:c.983G>T	XP_011515254.1:p.Ser328Ile
XM_011516953.1:c.869G>T	XP_011515255.1:p.Ser290Ile
XM_011516954.1:c.869G>T	XP_011515256.1:p.Ser290Ile
XR_428377.2:n.1481G>T
NM_001321961.1:c.1169G>T	NP_001308890.1:p.Ser390Ile
NM_001321962.1:c.983G>T	NP_001308891.1:p.Ser328Ile
NM_001321963.1:c.869G>T	NP_001308892.1:p.Ser290Ile
NM_001321964.1:c.869G>T	NP_001308893.1:p.Ser290Ile
NM_001321965.1:c.869G>T	NP_001308894.1:p.Ser290Ile
NM_001321966.1:c.809G>T	NP_001308895.1:p.Ser270Ile
NM_012472.5:c.1229G>T	NP_036604.2:p.Ser410Ile
NR_073525.2:n.1453G>T
NR_135905.1:n.1442G>T
NR_135906.1:n.883G>T
NR_135907.1:n.1129G>T
NR_135908.1:n.823G>T
NR_135909.1:n.1247G>T
NR_135910.1:n.1554G>T
NR_135911.1:n.1633G>T
NR_135912.1:n.2192G>T
NR_135913.1:n.1879G>T
XM_006716538.3:c.1247G>T	XP_006716601.2:p.Ser416Ile
XM_011516950.2:c.1187G>T	XP_011515252.1:p.Ser396Ile
XM_017013296.1:c.1127G>T	XP_016868785.1:p.Ser376Ile
XM_017013297.1:c.869G>T	XP_016868786.1:p.Ser290Ile
XM_017013298.1:c.869G>T	XP_016868787.1:p.Ser290Ile
NM_012472.6:c.1229G>T MANE Select	NP_036604.2:p.Ser410Ile
NM_001321961.2:c.1169G>T	NP_001308890.1:p.Ser390Ile
NM_001321962.2:c.983G>T	NP_001308891.1:p.Ser328Ile
NM_001321963.2:c.869G>T	NP_001308892.1:p.Ser290Ile
NM_001321964.2:c.869G>T	NP_001308893.1:p.Ser290Ile
NM_001321965.2:c.869G>T	NP_001308894.1:p.Ser290Ile
NM_001321966.2:c.809G>T	NP_001308895.1:p.Ser270Ile
NR_073525.3:n.1381G>T
NR_135905.2:n.1370G>T
NR_135906.2:n.811G>T
NR_135907.2:n.1057G>T
NR_135908.2:n.751G>T
NR_135909.2:n.1267G>T
NR_135910.2:n.1617G>T
NR_135911.2:n.1737G>T
NR_135912.2:n.2296G>T
NR_135913.2:n.1983G>T