Canonical Allele Identifier: CA387867305

Gene: EXOSC8

Linked Data

• dbSNP Id: rs606231285
• gnomAD v3: 13-37000810-C-G
• gnomAD v4: 13-37000810-C-G
• MyVariant Identifiers: chr13:g.37574947C>G (hg19) ; chr13:g.37000810C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000464235.6:n.29C>G
ENST00000470423.2:n.45C>G
ENST00000488108.6:n.31C>G
ENST00000488779.6:n.23C>G
ENST00000684866.1:n.33C>G
ENST00000685563.1:n.23C>G
ENST00000685624.1:c.-2121C>G	ENSP00000510384.1:n.-2121C>G
ENST00000685643.1:n.23C>G
ENST00000686472.1:n.25C>G
ENST00000686701.1:n.33C>G
ENST00000686729.1:c.5C>G	ENSP00000509000.1:p.Ala2Gly
ENST00000687482.1:c.-1689C>G	ENSP00000510481.1:n.-1689C>G
ENST00000687944.1:c.-1599C>G	ENSP00000509727.1:n.-1599C>G
ENST00000688064.1:c.-1608C>G	ENSP00000510279.1:n.-1608C>G
ENST00000688436.1:c.-1572C>G	ENSP00000508444.1:n.-1572C>G
ENST00000689744.1:c.5C>G	ENSP00000510687.1:p.Ala2Gly
ENST00000689948.1:c.-2116C>G	ENSP00000509508.1:n.-2116C>G
ENST00000690673.1:n.23C>G
ENST00000690774.1:c.5C>G	ENSP00000508609.1:p.Ala2Gly
ENST00000692143.1:c.-1650C>G	ENSP00000510649.1:n.-1650C>G
ENST00000692477.1:n.25C>G
ENST00000692761.1:c.5C>G	ENSP00000510440.1:p.Ala2Gly
ENST00000692787.1:c.5C>G	ENSP00000509588.1:p.Ala2Gly
ENST00000693100.1:c.-1674C>G	ENSP00000509449.1:n.-1674C>G
ENST00000693733.1:n.23C>G
ENST00000389704.4:c.5C>G MANE Select	ENSP00000374354.3:p.Ala2Gly
ENST00000239893.9:c.5C>G	ENSP00000239893.5:p.Ala2Gly
ENST00000389704.3:c.5C>G	ENSP00000374354.3:p.Ala2Gly
ENST00000474661.5:n.25C>G
ENST00000489088.5:n.380-1463C>G
ENST00000490537.6:n.24C>G
NM_181503.2:c.5C>G	NP_852480.1:p.Ala2Gly
XM_006719763.1:c.153C>G	XP_006719826.1:p.Gly51=
XR_429212.1:n.438C>G
XR_941480.1:n.438C>G
XR_429212.2:n.438C>G
NM_181503.3:c.5C>G MANE Select	NP_852480.1:p.Ala2Gly