Canonical Allele Identifier: CA5062802

Gene: EXOSC3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37784706G>A , CM000671.2:g.37784706G>A	GRCh38
NC_000009.11:g.37784703G>A , CM000671.1:g.37784703G>A	GRCh37
NC_000009.10:g.37774703G>A	NCBI36
NG_032780.1:g.5387C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016042.4:c.324+15C>T MANE Select	NP_057126.2:n.324+15C>T
ENST00000327304.10:c.324+15C>T MANE Select	ENSP00000323046.4:n.324+15C>T
NM_001002269.2:c.324+15C>T	NP_001002269.1:n.324+15C>T
NM_016042.3:c.324+15C>T	NP_057126.2:n.324+15C>T
ENST00000327304.9:c.324+15C>T	ENSP00000323046.4:n.324+15C>T
ENST00000396521.3:c.324+15C>T	ENSP00000379775.3:n.324+15C>T
ENST00000465229.5:c.324+15C>T	ENSP00000418422.1:n.324+15C>T
ENST00000465860.5:n.25+15C>T
ENST00000465860.6:n.25+15C>T
ENST00000482614.5:n.86-643C>T
ENST00000489414.5:n.44-643C>T
ENST00000490516.5:n.8C>T
ENST00000496910.1:n.25+15C>T
ENST00000540557.1:c.*761-643C>T	ENSP00000457548.1:n.*761-643C>T
ENST00000678095.1:c.-70-643C>T	ENSP00000503205.1:n.-70-643C>T
ENST00000678588.1:n.359C>T
ENST00000679059.1:c.324+15C>T	ENSP00000503947.1:n.324+15C>T