Canonical Allele Identifier: CA342800

Gene: EXOSC3

Linked Data

• ClinVar Variation Id: 31691
• ClinVar RCV Id: RCV000024369 ; RCV000853550 ; RCV001092265
• dbSNP Id: rs387907196
• ExAC: 9:37784950 C / G
• gnomAD v2: 9-37784950-C-G
• gnomAD v4: 9-37784953-C-G
• MyVariant Identifiers: chr9:g.37784950C>G (hg19) ; chr9:g.37784953C>G (hg38)
• PubMed: PMID:22544365 ; PMID:23883322 ; PMID:25144110

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37784953C>G , CM000671.2:g.37784953C>G	GRCh38
NC_000009.11:g.37784950C>G , CM000671.1:g.37784950C>G	GRCh37
NC_000009.10:g.37774950C>G	NCBI36
NG_032780.1:g.5140G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000327304.10:c.92G>C MANE Select	ENSP00000323046.4:p.Gly31Ala
ENST00000678095.1:c.-70-890G>C	ENSP00000503205.1:n.-70-890G>C
ENST00000678588.1:n.112G>C
ENST00000679059.1:c.92G>C	ENSP00000503947.1:p.Gly31Ala
ENST00000327304.9:c.92G>C	ENSP00000323046.4:p.Gly31Ala
ENST00000396521.3:c.92G>C	ENSP00000379775.3:p.Gly31Ala
ENST00000465229.5:c.92G>C	ENSP00000418422.1:p.Gly31Ala
ENST00000482614.5:n.86-890G>C
ENST00000489414.5:n.44-890G>C
ENST00000540557.1:c.*761-890G>C	ENSP00000457548.1:n.*761-890G>C
NM_001002269.2:c.92G>C	NP_001002269.1:p.Gly31Ala
NM_016042.3:c.92G>C	NP_057126.2:p.Gly31Ala
NM_016042.4:c.92G>C MANE Select	NP_057126.2:p.Gly31Ala