Canonical Allele Identifier: CA463074087
Gene: DNAAF11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.133584617T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132572369T>C , CM000670.2:g.132572369T>C GRCh38
NC_000008.10:g.133584617T>C , CM000670.1:g.133584617T>C GRCh37
NC_000008.9:g.133653799T>C NCBI36
NG_033068.1:g.108247A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000620350.5:c.1338A>G MANE Select ENSP00000484634.1:p.Lys446=
ENST00000250173.5:c.*202A>G ENSP00000250173.2:n.*202A>G
ENST00000518642.5:c.*202A>G ENSP00000428610.1:n.*202A>G
ENST00000519595.5:c.1338A>G ENSP00000429791.1:p.Lys446=
ENST00000522789.5:c.558A>G ENSP00000428015.1:p.Lys186=
ENST00000618342.1:c.1338A>G ENSP00000484802.1:p.Lys446=
ENST00000620350.4:c.1338A>G ENSP00000484634.1:p.Lys446=
NM_012472.4:c.1338A>G NP_036604.2:p.Lys446=
NR_073525.1:n.1562A>G
XM_006716538.2:c.1356A>G XP_006716601.2:p.Lys452=
XM_011516950.1:c.1296A>G XP_011515252.1:p.Lys432=
XM_011516952.1:c.1092A>G XP_011515254.1:p.Lys364=
XM_011516953.1:c.978A>G XP_011515255.1:p.Lys326=
XM_011516954.1:c.978A>G XP_011515256.1:p.Lys326=
XR_428377.2:n.1590A>G
NM_001321961.1:c.1278A>G NP_001308890.1:p.Lys426=
NM_001321962.1:c.1092A>G NP_001308891.1:p.Lys364=
NM_001321963.1:c.978A>G NP_001308892.1:p.Lys326=
NM_001321964.1:c.978A>G NP_001308893.1:p.Lys326=
NM_001321965.1:c.978A>G NP_001308894.1:p.Lys326=
NM_001321966.1:c.918A>G NP_001308895.1:p.Lys306=
NM_012472.5:c.1338A>G NP_036604.2:p.Lys446=
NR_073525.2:n.1562A>G
NR_135905.1:n.1551A>G
NR_135906.1:n.992A>G
NR_135907.1:n.1238A>G
NR_135908.1:n.932A>G
NR_135909.1:n.1356A>G
NR_135910.1:n.1663A>G
NR_135911.1:n.1742A>G
NR_135912.1:n.2301A>G
NR_135913.1:n.1988A>G
XM_006716538.3:c.1356A>G XP_006716601.2:p.Lys452=
XM_011516950.2:c.1296A>G XP_011515252.1:p.Lys432=
XM_017013296.1:c.1236A>G XP_016868785.1:p.Lys412=
XM_017013297.1:c.978A>G XP_016868786.1:p.Lys326=
XM_017013298.1:c.978A>G XP_016868787.1:p.Lys326=
NM_012472.6:c.1338A>G MANE Select NP_036604.2:p.Lys446=
NM_001321961.2:c.1278A>G NP_001308890.1:p.Lys426=
NM_001321962.2:c.1092A>G NP_001308891.1:p.Lys364=
NM_001321963.2:c.978A>G NP_001308892.1:p.Lys326=
NM_001321964.2:c.978A>G NP_001308893.1:p.Lys326=
NM_001321965.2:c.978A>G NP_001308894.1:p.Lys326=
NM_001321966.2:c.918A>G NP_001308895.1:p.Lys306=
NR_073525.3:n.1490A>G
NR_135905.2:n.1479A>G
NR_135906.2:n.920A>G
NR_135907.2:n.1166A>G
NR_135908.2:n.860A>G
NR_135909.2:n.1376A>G
NR_135910.2:n.1726A>G
NR_135911.2:n.1846A>G
NR_135912.2:n.2405A>G
NR_135913.2:n.2092A>G