Canonical Allele Identifier: CA16042791
Gene: EXOSC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 372991
ClinVar RCV Id: RCV000414156
dbSNP Id: rs1057518124
MyVariant Identifiers: chr9:g.37784962A>C (hg19) chr9:g.37784965A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37784965A>C , CM000671.2:g.37784965A>C GRCh38
NC_000009.11:g.37784962A>C , CM000671.1:g.37784962A>C GRCh37
NC_000009.10:g.37774962A>C NCBI36
NG_032780.1:g.5128T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000327304.10:c.80T>G MANE Select ENSP00000323046.4:p.Val27Gly
ENST00000678095.1:c.-70-902T>G ENSP00000503205.1:n.-70-902T>G
ENST00000678588.1:n.100T>G
ENST00000679059.1:c.80T>G ENSP00000503947.1:p.Val27Gly
ENST00000327304.9:c.80T>G ENSP00000323046.4:p.Val27Gly
ENST00000396521.3:c.80T>G ENSP00000379775.3:p.Val27Gly
ENST00000465229.5:c.80T>G ENSP00000418422.1:p.Val27Gly
ENST00000482614.5:n.86-902T>G
ENST00000489414.5:n.44-902T>G
ENST00000540557.1:c.*761-902T>G ENSP00000457548.1:n.*761-902T>G
NM_001002269.2:c.80T>G NP_001002269.1:p.Val27Gly
NM_016042.3:c.80T>G NP_057126.2:p.Val27Gly
NM_016042.4:c.80T>G MANE Select NP_057126.2:p.Val27Gly
Search 100 bp 5'
Search 100 bp 3'