Canonical Allele Identifier: CA5062903

Gene: EXOSC3

Linked Data

• ClinVar Variation Id: 366879
• ClinVar RCV Id: RCV000276347 ; RCV000442496
• dbSNP Id: rs373191549
• ExAC: 9:37785052 A / G
• gnomAD v2: 9-37785052-A-G
• gnomAD v3: 9-37785055-A-G
• gnomAD v4: 9-37785055-A-G
• MyVariant Identifiers: chr9:g.37785052A>G (hg19) ; chr9:g.37785055A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37785055A>G , CM000671.2:g.37785055A>G	GRCh38
NC_000009.11:g.37785052A>G , CM000671.1:g.37785052A>G	GRCh37
NC_000009.10:g.37775052A>G	NCBI36
NG_032780.1:g.5038T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327304.10:c.-11T>C MANE Select	ENSP00000323046.4:n.-11T>C
ENST00000678095.1:c.-70-992T>C	ENSP00000503205.1:n.-70-992T>C
ENST00000678588.1:n.10T>C
ENST00000679059.1:c.-11T>C	ENSP00000503947.1:n.-11T>C
ENST00000327304.9:c.-11T>C	ENSP00000323046.4:n.-11T>C
ENST00000396521.3:c.-11T>C	ENSP00000379775.3:n.-11T>C
ENST00000465229.5:c.-11T>C	ENSP00000418422.1:n.-11T>C
ENST00000482614.5:n.86-992T>C
ENST00000489414.5:n.44-992T>C
ENST00000540557.1:c.*761-992T>C	ENSP00000457548.1:n.*761-992T>C
NM_001002269.2:c.-11T>C	NP_001002269.1:n.-11T>C
NM_016042.3:c.-11T>C	NP_057126.2:n.-11T>C
NM_016042.4:c.-11T>C MANE Select	NP_057126.2:n.-11T>C