Canonical Allele Identifier: CA463074070
Gene: DNAAF11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.133584590G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132572342G>A , CM000670.2:g.132572342G>A GRCh38
NC_000008.10:g.133584590G>A , CM000670.1:g.133584590G>A GRCh37
NC_000008.9:g.133653772G>A NCBI36
NG_033068.1:g.108274C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000620350.5:c.1365C>T MANE Select ENSP00000484634.1:p.Thr455=
ENST00000250173.5:c.*229C>T ENSP00000250173.2:n.*229C>T
ENST00000518642.5:c.*229C>T ENSP00000428610.1:n.*229C>T
ENST00000519595.5:c.1365C>T ENSP00000429791.1:p.Thr455=
ENST00000522789.5:c.585C>T ENSP00000428015.1:p.Thr195=
ENST00000618342.1:c.1365C>T ENSP00000484802.1:p.Thr455=
ENST00000620350.4:c.1365C>T ENSP00000484634.1:p.Thr455=
NM_012472.4:c.1365C>T NP_036604.2:p.Thr455=
NR_073525.1:n.1589C>T
XM_006716538.2:c.1383C>T XP_006716601.2:p.Thr461=
XM_011516950.1:c.1323C>T XP_011515252.1:p.Thr441=
XM_011516952.1:c.1119C>T XP_011515254.1:p.Thr373=
XM_011516953.1:c.1005C>T XP_011515255.1:p.Thr335=
XM_011516954.1:c.1005C>T XP_011515256.1:p.Thr335=
XR_428377.2:n.1617C>T
NM_001321961.1:c.1305C>T NP_001308890.1:p.Thr435=
NM_001321962.1:c.1119C>T NP_001308891.1:p.Thr373=
NM_001321963.1:c.1005C>T NP_001308892.1:p.Thr335=
NM_001321964.1:c.1005C>T NP_001308893.1:p.Thr335=
NM_001321965.1:c.1005C>T NP_001308894.1:p.Thr335=
NM_001321966.1:c.945C>T NP_001308895.1:p.Thr315=
NM_012472.5:c.1365C>T NP_036604.2:p.Thr455=
NR_073525.2:n.1589C>T
NR_135905.1:n.1578C>T
NR_135906.1:n.1019C>T
NR_135907.1:n.1265C>T
NR_135908.1:n.959C>T
NR_135909.1:n.1383C>T
NR_135910.1:n.1690C>T
NR_135911.1:n.1769C>T
NR_135912.1:n.2328C>T
NR_135913.1:n.2015C>T
XM_006716538.3:c.1383C>T XP_006716601.2:p.Thr461=
XM_011516950.2:c.1323C>T XP_011515252.1:p.Thr441=
XM_017013296.1:c.1263C>T XP_016868785.1:p.Thr421=
XM_017013297.1:c.1005C>T XP_016868786.1:p.Thr335=
XM_017013298.1:c.1005C>T XP_016868787.1:p.Thr335=
NM_012472.6:c.1365C>T MANE Select NP_036604.2:p.Thr455=
NM_001321961.2:c.1305C>T NP_001308890.1:p.Thr435=
NM_001321962.2:c.1119C>T NP_001308891.1:p.Thr373=
NM_001321963.2:c.1005C>T NP_001308892.1:p.Thr335=
NM_001321964.2:c.1005C>T NP_001308893.1:p.Thr335=
NM_001321965.2:c.1005C>T NP_001308894.1:p.Thr335=
NM_001321966.2:c.945C>T NP_001308895.1:p.Thr315=
NR_073525.3:n.1517C>T
NR_135905.2:n.1506C>T
NR_135906.2:n.947C>T
NR_135907.2:n.1193C>T
NR_135908.2:n.887C>T
NR_135909.2:n.1403C>T
NR_135910.2:n.1753C>T
NR_135911.2:n.1873C>T
NR_135912.2:n.2432C>T
NR_135913.2:n.2119C>T