Canonical Allele Identifier: CA5062864

Gene: EXOSC3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37784993G>A , CM000671.2:g.37784993G>A	GRCh38
NC_000009.11:g.37784990G>A , CM000671.1:g.37784990G>A	GRCh37
NC_000009.10:g.37774990G>A	NCBI36
NG_032780.1:g.5100C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016042.4:c.52C>T MANE Select	NP_057126.2:p.Arg18Cys
ENST00000327304.10:c.52C>T MANE Select	ENSP00000323046.4:p.Arg18Cys
NM_001002269.2:c.52C>T	NP_001002269.1:p.Arg18Cys
NM_016042.3:c.52C>T	NP_057126.2:p.Arg18Cys
ENST00000327304.9:c.52C>T	ENSP00000323046.4:p.Arg18Cys
ENST00000396521.3:c.52C>T	ENSP00000379775.3:p.Arg18Cys
ENST00000465229.5:c.52C>T	ENSP00000418422.1:p.Arg18Cys
ENST00000482614.5:n.86-930C>T
ENST00000489414.5:n.44-930C>T
ENST00000540557.1:c.*761-930C>T	ENSP00000457548.1:n.*761-930C>T
ENST00000678095.1:c.-70-930C>T	ENSP00000503205.1:n.-70-930C>T
ENST00000678588.1:n.72C>T
ENST00000679059.1:c.52C>T	ENSP00000503947.1:p.Arg18Cys