Canonical Allele Identifier: CA5062883

Gene: EXOSC3

Linked Data

• dbSNP Id: rs549030188
• ExAC: 9:37785029 C / G
• gnomAD v2: 9-37785029-C-G
• gnomAD v4: 9-37785032-C-G
• MyVariant Identifiers: chr9:g.37785029C>G (hg19) ; chr9:g.37785032C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37785032C>G , CM000671.2:g.37785032C>G	GRCh38
NC_000009.11:g.37785029C>G , CM000671.1:g.37785029C>G	GRCh37
NC_000009.10:g.37775029C>G	NCBI36
NG_032780.1:g.5061G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327304.10:c.13G>C MANE Select	ENSP00000323046.4:p.Ala5Pro
ENST00000678095.1:c.-70-969G>C	ENSP00000503205.1:n.-70-969G>C
ENST00000678588.1:n.33G>C
ENST00000679059.1:c.13G>C	ENSP00000503947.1:p.Ala5Pro
ENST00000327304.9:c.13G>C	ENSP00000323046.4:p.Ala5Pro
ENST00000396521.3:c.13G>C	ENSP00000379775.3:p.Ala5Pro
ENST00000465229.5:c.13G>C	ENSP00000418422.1:p.Ala5Pro
ENST00000482614.5:n.86-969G>C
ENST00000489414.5:n.44-969G>C
ENST00000540557.1:c.*761-969G>C	ENSP00000457548.1:n.*761-969G>C
NM_001002269.2:c.13G>C	NP_001002269.1:p.Ala5Pro
NM_016042.3:c.13G>C	NP_057126.2:p.Ala5Pro
NM_016042.4:c.13G>C MANE Select	NP_057126.2:p.Ala5Pro