Canonical Allele Identifier: CA373474734

Gene: EXOSC3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37780804C>G , CM000671.2:g.37780804C>G	GRCh38
NC_000009.11:g.37780801C>G , CM000671.1:g.37780801C>G	GRCh37
NC_000009.10:g.37770801C>G	NCBI36
NG_032780.1:g.9289G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_016042.4:c.703G>C MANE Select	NP_057126.2:p.Gly235Arg
ENST00000327304.10:c.703G>C MANE Select	ENSP00000323046.4:p.Gly235Arg
NM_001002269.2:c.*56G>C	NP_001002269.1:n.*56G>C
NM_016042.3:c.703G>C	NP_057126.2:p.Gly235Arg
ENST00000327304.9:c.703G>C	ENSP00000323046.4:p.Gly235Arg
ENST00000396521.3:c.*56G>C	ENSP00000379775.3:n.*56G>C
ENST00000465229.5:c.*56G>C	ENSP00000418422.1:n.*56G>C
ENST00000465860.6:n.1509G>C
ENST00000489414.5:n.422G>C
ENST00000490516.5:n.557G>C
ENST00000540557.1:c.*910+3110G>C	ENSP00000457548.1:n.*910+3110G>C
ENST00000678095.1:c.157G>C	ENSP00000503205.1:p.Gly53Arg
ENST00000679059.1:c.*56G>C	ENSP00000503947.1:n.*56G>C