Canonical Allele Identifier: CA345539

Gene: EXOSC3

Linked Data

• ClinVar Variation Id: 129024
• ClinVar RCV Id: RCV001200535
• dbSNP Id: rs374550999
• ExAC: 9:37784804 C / A
• gnomAD v2: 9-37784804-C-A
• gnomAD v3: 9-37784807-C-A
• gnomAD v4: 9-37784807-C-A
• MyVariant Identifiers: chr9:g.37784804C>A (hg19) ; chr9:g.37784807C>A (hg38)
• PubMed: PMID:23975261 ; PMID:25144110

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37784807C>A , CM000671.2:g.37784807C>A	GRCh38
NC_000009.11:g.37784804C>A , CM000671.1:g.37784804C>A	GRCh37
NC_000009.10:g.37774804C>A	NCBI36
NG_032780.1:g.5286G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000327304.10:c.238G>T MANE Select	ENSP00000323046.4:p.Val80Phe
ENST00000678095.1:c.-70-744G>T	ENSP00000503205.1:n.-70-744G>T
ENST00000678588.1:n.258G>T
ENST00000679059.1:c.238G>T	ENSP00000503947.1:p.Val80Phe
ENST00000327304.9:c.238G>T	ENSP00000323046.4:p.Val80Phe
ENST00000396521.3:c.238G>T	ENSP00000379775.3:p.Val80Phe
ENST00000465229.5:c.238G>T	ENSP00000418422.1:p.Val80Phe
ENST00000482614.5:n.86-744G>T
ENST00000489414.5:n.44-744G>T
ENST00000540557.1:c.*761-744G>T	ENSP00000457548.1:n.*761-744G>T
NM_001002269.2:c.238G>T	NP_001002269.1:p.Val80Phe
NM_016042.3:c.238G>T	NP_057126.2:p.Val80Phe
NM_016042.4:c.238G>T MANE Select	NP_057126.2:p.Val80Phe