Canonical Allele Identifier: CA373474717

Gene: EXOSC3

Linked Data

• MyVariant Identifiers: chr9:g.37780792A>T (hg19) ; chr9:g.37780795A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37780795A>T , CM000671.2:g.37780795A>T	GRCh38
NC_000009.11:g.37780792A>T , CM000671.1:g.37780792A>T	GRCh37
NC_000009.10:g.37770792A>T	NCBI36
NG_032780.1:g.9298T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327304.10:c.712T>A MANE Select	ENSP00000323046.4:p.Trp238Arg
ENST00000465860.6:n.1518T>A
ENST00000678095.1:c.166T>A	ENSP00000503205.1:p.Trp56Arg
ENST00000679059.1:c.*65T>A	ENSP00000503947.1:n.*65T>A
ENST00000327304.9:c.712T>A	ENSP00000323046.4:p.Trp238Arg
ENST00000396521.3:c.*65T>A	ENSP00000379775.3:n.*65T>A
ENST00000465229.5:c.*65T>A	ENSP00000418422.1:n.*65T>A
ENST00000489414.5:n.431T>A
ENST00000490516.5:n.566T>A
ENST00000540557.1:c.*910+3119T>A	ENSP00000457548.1:n.*910+3119T>A
NM_001002269.2:c.*65T>A	NP_001002269.1:n.*65T>A
NM_016042.3:c.712T>A	NP_057126.2:p.Trp238Arg
NM_016042.4:c.712T>A MANE Select	NP_057126.2:p.Trp238Arg