Canonical Allele Identifier: CA2084964032
Community Standard Title: NM_181503.3(EXOSC8):c.5C= (p.Ala2=)
Gene: EXOSC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.37000810C= , CM000675.2:g.37000810C= GRCh38
NC_000013.10:g.37574947C= , CM000675.1:g.37574947C= GRCh37
NC_000013.9:g.36472947C= NCBI36
NG_042275.1:g.5270C=

Transcript Alleles

HGVS Amino-acid Change
NM_181503.3:c.5C= MANE Select NP_852480.1:p.Ala2=
ENST00000389704.4:c.5C= MANE Select ENSP00000374354.3:p.Ala2=
NM_181503.2:c.5C= NP_852480.1:p.Ala2=
ENST00000239893.9:c.5C= ENSP00000239893.5:p.Ala2=
ENST00000389704.3:c.5C= ENSP00000374354.3:p.Ala2=
ENST00000464235.6:n.29C=
ENST00000470423.2:n.45C=
ENST00000474661.5:n.25C=
ENST00000488108.6:n.31C=
ENST00000488779.6:n.23C=
ENST00000489088.5:n.380-1463C=
ENST00000490537.6:n.24C=
ENST00000684866.1:n.33C=
ENST00000685563.1:n.23C=
ENST00000685624.1:c.-2121C= ENSP00000510384.1:n.-2121C=
ENST00000685643.1:n.23C=
ENST00000686472.1:n.25C=
ENST00000686701.1:n.33C=
ENST00000686729.1:c.5C= ENSP00000509000.1:p.Ala2=
ENST00000687482.1:c.-1689C= ENSP00000510481.1:n.-1689C=
ENST00000687944.1:c.-1599C= ENSP00000509727.1:n.-1599C=
ENST00000688064.1:c.-1608C= ENSP00000510279.1:n.-1608C=
ENST00000688436.1:c.-1572C= ENSP00000508444.1:n.-1572C=
ENST00000689744.1:c.5C= ENSP00000510687.1:p.Ala2=
ENST00000689948.1:c.-2116C= ENSP00000509508.1:n.-2116C=
ENST00000690673.1:n.23C=
ENST00000690774.1:c.5C= ENSP00000508609.1:p.Ala2=
ENST00000692143.1:c.-1650C= ENSP00000510649.1:n.-1650C=
ENST00000692477.1:n.25C=
ENST00000692761.1:c.5C= ENSP00000510440.1:p.Ala2=
ENST00000692787.1:c.5C= ENSP00000509588.1:p.Ala2=
ENST00000693100.1:c.-1674C= ENSP00000509449.1:n.-1674C=
ENST00000693733.1:n.23C=
XM_006719763.1:c.153C= XP_006719826.1:p.Gly51=
XR_429212.1:n.438C=
XR_429212.2:n.438C=
XR_941480.1:n.438C=