Canonical Allele Identifier: CA6951178
Community Standard Title: NM_181503.3(EXOSC8):c.269C>G (p.Ser90Ter)
Gene: EXOSC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.37005950C>G , CM000675.2:g.37005950C>G GRCh38
NC_000013.10:g.37580087C>G , CM000675.1:g.37580087C>G GRCh37
NC_000013.9:g.36478087C>G NCBI36
NG_042275.1:g.10410C>G

Transcript Alleles

HGVS Amino-acid Change
NM_181503.3:c.269C>G MANE Select NP_852480.1:p.Ser90Ter
ENST00000389704.4:c.269C>G MANE Select ENSP00000374354.3:p.Ser90Ter
NM_181503.2:c.269C>G NP_852480.1:p.Ser90Ter
ENST00000239893.9:c.*118C>G ENSP00000239893.5:n.*118C>G
ENST00000389704.3:c.269C>G ENSP00000374354.3:p.Ser90Ter
ENST00000464235.5:n.319C>G
ENST00000464235.6:n.1764C>G
ENST00000474661.5:n.342C>G
ENST00000488779.5:n.296C>G
ENST00000488779.6:n.1707-7C>G
ENST00000489088.5:n.631C>G
ENST00000490537.6:n.1766-7C>G
ENST00000495092.1:n.375C>G
ENST00000684866.1:n.3433C>G
ENST00000685563.1:n.2774C>G
ENST00000685624.1:c.-407C>G ENSP00000510384.1:n.-407C>G
ENST00000685643.1:n.3423C>G
ENST00000686701.1:n.1805C>G
ENST00000686729.1:c.269C>G ENSP00000509000.1:p.Ser90Ter
ENST00000687482.1:c.-407C>G ENSP00000510481.1:n.-407C>G
ENST00000687944.1:c.-402C>G ENSP00000509727.1:n.-402C>G
ENST00000688064.1:c.-395-7C>G ENSP00000510279.1:n.-395-7C>G
ENST00000688436.1:c.-407C>G ENSP00000508444.1:n.-407C>G
ENST00000689744.1:c.*88-7C>G ENSP00000510687.1:n.*88-7C>G
ENST00000689948.1:c.-402C>G ENSP00000509508.1:n.-402C>G
ENST00000690673.1:n.1305C>G
ENST00000690774.1:c.269C>G ENSP00000508609.1:p.Ser90Ter
ENST00000691611.1:c.-354-7C>G ENSP00000508696.1:n.-354-7C>G
ENST00000692143.1:c.-407C>G ENSP00000510649.1:n.-407C>G
ENST00000692477.1:n.1767-7C>G
ENST00000692588.1:c.-395-7C>G ENSP00000509760.1:n.-395-7C>G
ENST00000692636.1:c.-407C>G ENSP00000509306.1:n.-407C>G
ENST00000692761.1:c.239-7C>G ENSP00000510440.1:n.239-7C>G
ENST00000692787.1:c.*1047C>G ENSP00000509588.1:n.*1047C>G
ENST00000693100.1:c.-407C>G ENSP00000509449.1:n.-407C>G
ENST00000693562.1:n.86C>G
ENST00000693733.1:n.3245C>G
XM_006719763.1:c.380C>G XP_006719826.1:p.Ser127Ter
XR_429212.1:n.635-7C>G
XR_429212.2:n.635-7C>G
XR_941480.1:n.688C>G