Canonical Allele Identifier: CA5062903
Gene: EXOSC3 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.37785055A>G
GRCh37 chr9:g.37785052A>G
gnomAD v2:
9:37785052 A / G
gnomAD v3:
9:37785055 A / G
gnomAD v4:
chr9-37785055-A-G
Joint Max Group AF 0.00075321 (NFE)
Genomes Max Group AF 0.00041782 (NFE)
Exomes Max Group AF 0.0007662 (NFE)
ClinVar RCV:
RCV000276347
RCV000442496
ClinVar Variation:
366879
dbSNP:
373191549
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'