Canonical Allele Identifier: CA206987

Gene: EXOSC3

Linked Data

• ClinVar Variation Id: 210964
• ClinVar RCV Id: RCV000193472 ; RCV000699890
• dbSNP Id: rs138169215
• ExAC: 9:37784057 C / T
• gnomAD v2: 9-37784057-C-T
• gnomAD v3: 9-37784060-C-T
• gnomAD v4: 9-37784060-C-T
• MyVariant Identifiers: chr9:g.37784057C>T (hg19) ; chr9:g.37784060C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37784060C>T , CM000671.2:g.37784060C>T	GRCh38
NC_000009.11:g.37784057C>T , CM000671.1:g.37784057C>T	GRCh37
NC_000009.10:g.37774057C>T	NCBI36
NG_032780.1:g.6033G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000327304.10:c.328G>A MANE Select	ENSP00000323046.4:p.Val110Ile
ENST00000465860.6:n.29G>A
ENST00000678095.1:c.-67G>A	ENSP00000503205.1:n.-67G>A
ENST00000678588.1:n.1005G>A
ENST00000679059.1:c.328G>A	ENSP00000503947.1:p.Val110Ile
ENST00000327304.9:c.328G>A	ENSP00000323046.4:p.Val110Ile
ENST00000396521.3:c.328G>A	ENSP00000379775.3:p.Val110Ile
ENST00000465229.5:c.328G>A	ENSP00000418422.1:p.Val110Ile
ENST00000465860.5:n.29G>A
ENST00000482614.5:n.89G>A
ENST00000489414.5:n.47G>A
ENST00000490516.5:n.334G>A
ENST00000496910.1:n.29G>A
ENST00000540557.1:c.*764G>A	ENSP00000457548.1:n.*764G>A
NM_001002269.2:c.328G>A	NP_001002269.1:p.Val110Ile
NM_016042.3:c.328G>A	NP_057126.2:p.Val110Ile
NM_016042.4:c.328G>A MANE Select	NP_057126.2:p.Val110Ile