Canonical Allele Identifier: CA260045

Gene: EXOSC3

Linked Data

• ClinVar Variation Id: 31689
• ClinVar RCV Id: RCV000024367 ; RCV003234918
• dbSNP Id: rs387907195
• gnomAD v2: 9-37783970-C-G
• gnomAD v4: 9-37783973-C-G
• MyVariant Identifiers: chr9:g.37783970C>G (hg19) ; chr9:g.37783973C>G (hg38)
• PubMed: PMID:22544365

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37783973C>G , CM000671.2:g.37783973C>G	GRCh38
NC_000009.11:g.37783970C>G , CM000671.1:g.37783970C>G	GRCh37
NC_000009.10:g.37773970C>G	NCBI36
NG_032780.1:g.6120G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327304.10:c.415G>C MANE Select	ENSP00000323046.4:p.Ala139Pro
ENST00000465860.6:n.116G>C
ENST00000678095.1:c.21G>C	ENSP00000503205.1:p.Gln7His
ENST00000678588.1:n.1092G>C
ENST00000679059.1:c.415G>C	ENSP00000503947.1:p.Ala139Pro
ENST00000327304.9:c.415G>C	ENSP00000323046.4:p.Ala139Pro
ENST00000396521.3:c.415G>C	ENSP00000379775.3:p.Ala139Pro
ENST00000465229.5:c.415G>C	ENSP00000418422.1:p.Ala139Pro
ENST00000465860.5:n.116G>C
ENST00000482614.5:n.176G>C
ENST00000489414.5:n.134G>C
ENST00000490516.5:n.421G>C
ENST00000496910.1:n.116G>C
ENST00000540557.1:c.*851G>C	ENSP00000457548.1:n.*851G>C
NM_001002269.2:c.415G>C	NP_001002269.1:p.Ala139Pro
NM_016042.3:c.415G>C	NP_057126.2:p.Ala139Pro
NM_016042.4:c.415G>C MANE Select	NP_057126.2:p.Ala139Pro