Canonical Allele Identifier: CA204654

Gene: EXOSC3

Linked Data

• ClinVar Variation Id: 31688
• ClinVar RCV Id: RCV000024366 ; RCV000190687 ; RCV000224817 ; RCV000761614 ; RCV001836713 ; RCV003156064
• dbSNP Id: rs141138948
• ExAC: 9:37783990 T / G
• gnomAD v2: 9-37783990-T-G
• gnomAD v3: 9-37783993-T-G
• gnomAD v4: 9-37783993-T-G
• MyVariant Identifiers: chr9:g.37783990T>G (hg19) ; chr9:g.37783993T>G (hg38)
• PubMed: PMID:8147499 ; PMID:11110791 ; PMID:22544365 ; PMID:23284067 ; PMID:23564332 ; PMID:23883322 ; PMID:23891399 ; PMID:23975261 ; PMID:24524299 ; PMID:25144110

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327304.10:c.395A>C MANE Select	ENSP00000323046.4:p.Asp132Ala
ENST00000465860.6:n.96A>C
ENST00000678095.1:c.1A>C	ENSP00000503205.1:p.Met1Leu
ENST00000678588.1:n.1072A>C
ENST00000679059.1:c.395A>C	ENSP00000503947.1:p.Asp132Ala
ENST00000327304.9:c.395A>C	ENSP00000323046.4:p.Asp132Ala
ENST00000396521.3:c.395A>C	ENSP00000379775.3:p.Asp132Ala
ENST00000465229.5:c.395A>C	ENSP00000418422.1:p.Asp132Ala
ENST00000465860.5:n.96A>C
ENST00000482614.5:n.156A>C
ENST00000489414.5:n.114A>C
ENST00000490516.5:n.401A>C
ENST00000496910.1:n.96A>C
ENST00000540557.1:c.*831A>C	ENSP00000457548.1:n.*831A>C
NM_001002269.2:c.395A>C	NP_001002269.1:p.Asp132Ala
NM_016042.3:c.395A>C	NP_057126.2:p.Asp132Ala
NM_016042.4:c.395A>C MANE Select	NP_057126.2:p.Asp132Ala