Canonical Allele Identifier: CA373475443

Gene: EXOSC3

Linked Data

• dbSNP Id: rs141138948
• MyVariant Identifiers: chr9:g.37783990T>C (hg19) ; chr9:g.37783993T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37783993T>C , CM000671.2:g.37783993T>C	GRCh38
NC_000009.11:g.37783990T>C , CM000671.1:g.37783990T>C	GRCh37
NC_000009.10:g.37773990T>C	NCBI36
NG_032780.1:g.6100A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000327304.10:c.395A>G MANE Select	ENSP00000323046.4:p.Asp132Gly
ENST00000465860.6:n.96A>G
ENST00000678095.1:c.1A>G	ENSP00000503205.1:p.Met1Val
ENST00000678588.1:n.1072A>G
ENST00000679059.1:c.395A>G	ENSP00000503947.1:p.Asp132Gly
ENST00000327304.9:c.395A>G	ENSP00000323046.4:p.Asp132Gly
ENST00000396521.3:c.395A>G	ENSP00000379775.3:p.Asp132Gly
ENST00000465229.5:c.395A>G	ENSP00000418422.1:p.Asp132Gly
ENST00000465860.5:n.96A>G
ENST00000482614.5:n.156A>G
ENST00000489414.5:n.114A>G
ENST00000490516.5:n.401A>G
ENST00000496910.1:n.96A>G
ENST00000540557.1:c.*831A>G	ENSP00000457548.1:n.*831A>G
NM_001002269.2:c.395A>G	NP_001002269.1:p.Asp132Gly
NM_016042.3:c.395A>G	NP_057126.2:p.Asp132Gly
NM_016042.4:c.395A>G MANE Select	NP_057126.2:p.Asp132Gly