Canonical Allele Identifier: CA463074094
Gene: DNAAF11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.133584626A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132572378A>C , CM000670.2:g.132572378A>C GRCh38
NC_000008.10:g.133584626A>C , CM000670.1:g.133584626A>C GRCh37
NC_000008.9:g.133653808A>C NCBI36
NG_033068.1:g.108238T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000620350.5:c.1329T>G MANE Select ENSP00000484634.1:p.Pro443=
ENST00000250173.5:c.*193T>G ENSP00000250173.2:n.*193T>G
ENST00000518642.5:c.*193T>G ENSP00000428610.1:n.*193T>G
ENST00000519595.5:c.1329T>G ENSP00000429791.1:p.Pro443=
ENST00000522789.5:c.549T>G ENSP00000428015.1:p.Pro183=
ENST00000618342.1:c.1329T>G ENSP00000484802.1:p.Pro443=
ENST00000620350.4:c.1329T>G ENSP00000484634.1:p.Pro443=
NM_012472.4:c.1329T>G NP_036604.2:p.Pro443=
NR_073525.1:n.1553T>G
XM_006716538.2:c.1347T>G XP_006716601.2:p.Pro449=
XM_011516950.1:c.1287T>G XP_011515252.1:p.Pro429=
XM_011516952.1:c.1083T>G XP_011515254.1:p.Pro361=
XM_011516953.1:c.969T>G XP_011515255.1:p.Pro323=
XM_011516954.1:c.969T>G XP_011515256.1:p.Pro323=
XR_428377.2:n.1581T>G
NM_001321961.1:c.1269T>G NP_001308890.1:p.Pro423=
NM_001321962.1:c.1083T>G NP_001308891.1:p.Pro361=
NM_001321963.1:c.969T>G NP_001308892.1:p.Pro323=
NM_001321964.1:c.969T>G NP_001308893.1:p.Pro323=
NM_001321965.1:c.969T>G NP_001308894.1:p.Pro323=
NM_001321966.1:c.909T>G NP_001308895.1:p.Pro303=
NM_012472.5:c.1329T>G NP_036604.2:p.Pro443=
NR_073525.2:n.1553T>G
NR_135905.1:n.1542T>G
NR_135906.1:n.983T>G
NR_135907.1:n.1229T>G
NR_135908.1:n.923T>G
NR_135909.1:n.1347T>G
NR_135910.1:n.1654T>G
NR_135911.1:n.1733T>G
NR_135912.1:n.2292T>G
NR_135913.1:n.1979T>G
XM_006716538.3:c.1347T>G XP_006716601.2:p.Pro449=
XM_011516950.2:c.1287T>G XP_011515252.1:p.Pro429=
XM_017013296.1:c.1227T>G XP_016868785.1:p.Pro409=
XM_017013297.1:c.969T>G XP_016868786.1:p.Pro323=
XM_017013298.1:c.969T>G XP_016868787.1:p.Pro323=
NM_012472.6:c.1329T>G MANE Select NP_036604.2:p.Pro443=
NM_001321961.2:c.1269T>G NP_001308890.1:p.Pro423=
NM_001321962.2:c.1083T>G NP_001308891.1:p.Pro361=
NM_001321963.2:c.969T>G NP_001308892.1:p.Pro323=
NM_001321964.2:c.969T>G NP_001308893.1:p.Pro323=
NM_001321965.2:c.969T>G NP_001308894.1:p.Pro323=
NM_001321966.2:c.909T>G NP_001308895.1:p.Pro303=
NR_073525.3:n.1481T>G
NR_135905.2:n.1470T>G
NR_135906.2:n.911T>G
NR_135907.2:n.1157T>G
NR_135908.2:n.851T>G
NR_135909.2:n.1367T>G
NR_135910.2:n.1717T>G
NR_135911.2:n.1837T>G
NR_135912.2:n.2396T>G
NR_135913.2:n.2083T>G