Canonical Allele Identifier: CA372291857

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584644G>C (hg19) ; chr8:g.132572396G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572396G>C , CM000670.2:g.132572396G>C	GRCh38
NC_000008.10:g.133584644G>C , CM000670.1:g.133584644G>C	GRCh37
NC_000008.9:g.133653826G>C	NCBI36
NG_033068.1:g.108220C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1311C>G MANE Select	ENSP00000484634.1:p.His437Gln
ENST00000250173.5:c.*175C>G	ENSP00000250173.2:n.*175C>G
ENST00000518642.5:c.*175C>G	ENSP00000428610.1:n.*175C>G
ENST00000519595.5:c.1311C>G	ENSP00000429791.1:p.His437Gln
ENST00000522789.5:c.531C>G	ENSP00000428015.1:p.His177Gln
ENST00000618342.1:c.1311C>G	ENSP00000484802.1:p.His437Gln
ENST00000620350.4:c.1311C>G	ENSP00000484634.1:p.His437Gln
NM_012472.4:c.1311C>G	NP_036604.2:p.His437Gln
NR_073525.1:n.1535C>G
XM_006716538.2:c.1329C>G	XP_006716601.2:p.His443Gln
XM_011516950.1:c.1269C>G	XP_011515252.1:p.His423Gln
XM_011516952.1:c.1065C>G	XP_011515254.1:p.His355Gln
XM_011516953.1:c.951C>G	XP_011515255.1:p.His317Gln
XM_011516954.1:c.951C>G	XP_011515256.1:p.His317Gln
XR_428377.2:n.1563C>G
NM_001321961.1:c.1251C>G	NP_001308890.1:p.His417Gln
NM_001321962.1:c.1065C>G	NP_001308891.1:p.His355Gln
NM_001321963.1:c.951C>G	NP_001308892.1:p.His317Gln
NM_001321964.1:c.951C>G	NP_001308893.1:p.His317Gln
NM_001321965.1:c.951C>G	NP_001308894.1:p.His317Gln
NM_001321966.1:c.891C>G	NP_001308895.1:p.His297Gln
NM_012472.5:c.1311C>G	NP_036604.2:p.His437Gln
NR_073525.2:n.1535C>G
NR_135905.1:n.1524C>G
NR_135906.1:n.965C>G
NR_135907.1:n.1211C>G
NR_135908.1:n.905C>G
NR_135909.1:n.1329C>G
NR_135910.1:n.1636C>G
NR_135911.1:n.1715C>G
NR_135912.1:n.2274C>G
NR_135913.1:n.1961C>G
XM_006716538.3:c.1329C>G	XP_006716601.2:p.His443Gln
XM_011516950.2:c.1269C>G	XP_011515252.1:p.His423Gln
XM_017013296.1:c.1209C>G	XP_016868785.1:p.His403Gln
XM_017013297.1:c.951C>G	XP_016868786.1:p.His317Gln
XM_017013298.1:c.951C>G	XP_016868787.1:p.His317Gln
NM_012472.6:c.1311C>G MANE Select	NP_036604.2:p.His437Gln
NM_001321961.2:c.1251C>G	NP_001308890.1:p.His417Gln
NM_001321962.2:c.1065C>G	NP_001308891.1:p.His355Gln
NM_001321963.2:c.951C>G	NP_001308892.1:p.His317Gln
NM_001321964.2:c.951C>G	NP_001308893.1:p.His317Gln
NM_001321965.2:c.951C>G	NP_001308894.1:p.His317Gln
NM_001321966.2:c.891C>G	NP_001308895.1:p.His297Gln
NR_073525.3:n.1463C>G
NR_135905.2:n.1452C>G
NR_135906.2:n.893C>G
NR_135907.2:n.1139C>G
NR_135908.2:n.833C>G
NR_135909.2:n.1349C>G
NR_135910.2:n.1699C>G
NR_135911.2:n.1819C>G
NR_135912.2:n.2378C>G
NR_135913.2:n.2065C>G