Canonical Allele Identifier: CA387867374

Gene: EXOSC8

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.37000823G>T , CM000675.2:g.37000823G>T	GRCh38
NC_000013.10:g.37574960G>T , CM000675.1:g.37574960G>T	GRCh37
NC_000013.9:g.36472960G>T	NCBI36
NG_042275.1:g.5283G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_181503.3:c.17+1G>T MANE Select	NP_852480.1:n.17+1G>T
ENST00000389704.4:c.17+1G>T MANE Select	ENSP00000374354.3:n.17+1G>T
NM_181503.2:c.17+1G>T	NP_852480.1:n.17+1G>T
ENST00000239893.9:c.17+1G>T	ENSP00000239893.5:n.17+1G>T
ENST00000389704.3:c.17+1G>T	ENSP00000374354.3:n.17+1G>T
ENST00000464235.6:n.41+1G>T
ENST00000470423.2:n.57+1G>T
ENST00000474661.5:n.37+1G>T
ENST00000488108.6:n.44G>T
ENST00000488779.6:n.36G>T
ENST00000489088.5:n.380-1450G>T
ENST00000490537.6:n.36+1G>T
ENST00000684866.1:n.46G>T
ENST00000685563.1:n.36G>T
ENST00000685624.1:c.-2108G>T	ENSP00000510384.1:n.-2108G>T
ENST00000685643.1:n.36G>T
ENST00000686472.1:n.37+1G>T
ENST00000686701.1:n.45+1G>T
ENST00000686729.1:c.17+1G>T	ENSP00000509000.1:n.17+1G>T
ENST00000687482.1:c.-1676G>T	ENSP00000510481.1:n.-1676G>T
ENST00000687944.1:c.-1586G>T	ENSP00000509727.1:n.-1586G>T
ENST00000688064.1:c.-1595G>T	ENSP00000510279.1:n.-1595G>T
ENST00000688436.1:c.-1559G>T	ENSP00000508444.1:n.-1559G>T
ENST00000689744.1:c.17+1G>T	ENSP00000510687.1:n.17+1G>T
ENST00000689948.1:c.-2103G>T	ENSP00000509508.1:n.-2103G>T
ENST00000690673.1:n.36G>T
ENST00000690774.1:c.17+1G>T	ENSP00000508609.1:n.17+1G>T
ENST00000692143.1:c.-1637G>T	ENSP00000510649.1:n.-1637G>T
ENST00000692477.1:n.37+1G>T
ENST00000692761.1:c.17+1G>T	ENSP00000510440.1:n.17+1G>T
ENST00000692787.1:c.17+1G>T	ENSP00000509588.1:n.17+1G>T
ENST00000693100.1:c.-1661G>T	ENSP00000509449.1:n.-1661G>T
ENST00000693733.1:n.36G>T
XM_006719763.1:c.165+1G>T	XP_006719826.1:n.165+1G>T
XR_429212.1:n.450+1G>T
XR_429212.2:n.450+1G>T
XR_941480.1:n.450+1G>T