Canonical Allele Identifier: CA342800
Gene: EXOSC3 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.37784953C>G
GRCh37 chr9:g.37784950C>G
Revel Score:
ENST00000327304 (MANE Select) 0.738
ENST00000396521 0.738
gnomAD v2:
9:37784950 C / G
gnomAD v4:
chr9-37784953-C-G
Joint Max Group AF 0.00000689 (NFE)
Exomes Max Group AF 0.00000731 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37784953C>G , CM000671.2:g.37784953C>G GRCh38
NC_000009.11:g.37784950C>G , CM000671.1:g.37784950C>G GRCh37
NC_000009.10:g.37774950C>G NCBI36
NG_032780.1:g.5140G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327304.10:c.92G>C MANE Select ENSP00000323046.4:p.Gly31Ala
ENST00000678095.1:c.-70-890G>C ENSP00000503205.1:n.-70-890G>C
ENST00000678588.1:n.112G>C
ENST00000679059.1:c.92G>C ENSP00000503947.1:p.Gly31Ala
ENST00000327304.9:c.92G>C ENSP00000323046.4:p.Gly31Ala
ENST00000396521.3:c.92G>C ENSP00000379775.3:p.Gly31Ala
ENST00000465229.5:c.92G>C ENSP00000418422.1:p.Gly31Ala
ENST00000482614.5:n.86-890G>C
ENST00000489414.5:n.44-890G>C
ENST00000540557.1:c.*761-890G>C ENSP00000457548.1:n.*761-890G>C
NM_001002269.2:c.92G>C NP_001002269.1:p.Gly31Ala
NM_016042.3:c.92G>C NP_057126.2:p.Gly31Ala
NM_016042.4:c.92G>C MANE Select NP_057126.2:p.Gly31Ala
Search 100 bp 5'
Search 100 bp 3'