Canonical Allele Identifier: CA5062731

Gene: EXOSC3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37782056G>A , CM000671.2:g.37782056G>A	GRCh38
NC_000009.11:g.37782053G>A , CM000671.1:g.37782053G>A	GRCh37
NC_000009.10:g.37772053G>A	NCBI36
NG_032780.1:g.8037C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016042.4:c.556C>T MANE Select	NP_057126.2:p.Arg186Ter
ENST00000327304.10:c.556C>T MANE Select	ENSP00000323046.4:p.Arg186Ter
NM_001002269.2:c.475-1176C>T	NP_001002269.1:n.475-1176C>T
NM_016042.3:c.556C>T	NP_057126.2:p.Arg186Ter
ENST00000327304.9:c.556C>T	ENSP00000323046.4:p.Arg186Ter
ENST00000396521.3:c.475-1176C>T	ENSP00000379775.3:n.475-1176C>T
ENST00000465229.5:c.475-1176C>T	ENSP00000418422.1:n.475-1176C>T
ENST00000465860.5:n.257C>T
ENST00000465860.6:n.257C>T
ENST00000482614.5:n.317C>T
ENST00000489414.5:n.275C>T
ENST00000490516.5:n.481-1176C>T
ENST00000540557.1:c.*910+1858C>T	ENSP00000457548.1:n.*910+1858C>T
ENST00000678095.1:c.81-1176C>T	ENSP00000503205.1:n.81-1176C>T
ENST00000678588.1:n.1233C>T
ENST00000679059.1:c.475-1176C>T	ENSP00000503947.1:n.475-1176C>T