Canonical Allele Identifier: CA463074108
Gene: DNAAF11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.133584644G>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000620350.5:c.1311C>T MANE Select ENSP00000484634.1:p.His437=
ENST00000250173.5:c.*175C>T ENSP00000250173.2:n.*175C>T
ENST00000518642.5:c.*175C>T ENSP00000428610.1:n.*175C>T
ENST00000519595.5:c.1311C>T ENSP00000429791.1:p.His437=
ENST00000522789.5:c.531C>T ENSP00000428015.1:p.His177=
ENST00000618342.1:c.1311C>T ENSP00000484802.1:p.His437=
ENST00000620350.4:c.1311C>T ENSP00000484634.1:p.His437=
NM_012472.4:c.1311C>T NP_036604.2:p.His437=
NR_073525.1:n.1535C>T
XM_006716538.2:c.1329C>T XP_006716601.2:p.His443=
XM_011516950.1:c.1269C>T XP_011515252.1:p.His423=
XM_011516952.1:c.1065C>T XP_011515254.1:p.His355=
XM_011516953.1:c.951C>T XP_011515255.1:p.His317=
XM_011516954.1:c.951C>T XP_011515256.1:p.His317=
XR_428377.2:n.1563C>T
NM_001321961.1:c.1251C>T NP_001308890.1:p.His417=
NM_001321962.1:c.1065C>T NP_001308891.1:p.His355=
NM_001321963.1:c.951C>T NP_001308892.1:p.His317=
NM_001321964.1:c.951C>T NP_001308893.1:p.His317=
NM_001321965.1:c.951C>T NP_001308894.1:p.His317=
NM_001321966.1:c.891C>T NP_001308895.1:p.His297=
NM_012472.5:c.1311C>T NP_036604.2:p.His437=
NR_073525.2:n.1535C>T
NR_135905.1:n.1524C>T
NR_135906.1:n.965C>T
NR_135907.1:n.1211C>T
NR_135908.1:n.905C>T
NR_135909.1:n.1329C>T
NR_135910.1:n.1636C>T
NR_135911.1:n.1715C>T
NR_135912.1:n.2274C>T
NR_135913.1:n.1961C>T
XM_006716538.3:c.1329C>T XP_006716601.2:p.His443=
XM_011516950.2:c.1269C>T XP_011515252.1:p.His423=
XM_017013296.1:c.1209C>T XP_016868785.1:p.His403=
XM_017013297.1:c.951C>T XP_016868786.1:p.His317=
XM_017013298.1:c.951C>T XP_016868787.1:p.His317=
NM_012472.6:c.1311C>T MANE Select NP_036604.2:p.His437=
NM_001321961.2:c.1251C>T NP_001308890.1:p.His417=
NM_001321962.2:c.1065C>T NP_001308891.1:p.His355=
NM_001321963.2:c.951C>T NP_001308892.1:p.His317=
NM_001321964.2:c.951C>T NP_001308893.1:p.His317=
NM_001321965.2:c.951C>T NP_001308894.1:p.His317=
NM_001321966.2:c.891C>T NP_001308895.1:p.His297=
NR_073525.3:n.1463C>T
NR_135905.2:n.1452C>T
NR_135906.2:n.893C>T
NR_135907.2:n.1139C>T
NR_135908.2:n.833C>T
NR_135909.2:n.1349C>T
NR_135910.2:n.1699C>T
NR_135911.2:n.1819C>T
NR_135912.2:n.2378C>T
NR_135913.2:n.2065C>T