Canonical Allele Identifier: CA465126659
Gene: EXOSC3 HGNC NCBI

Linked Data

gnomAD v4: 9-37784952-A-G
MyVariant Identifiers: chr9:g.37784949A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37784952A>G , CM000671.2:g.37784952A>G GRCh38
NC_000009.11:g.37784949A>G , CM000671.1:g.37784949A>G GRCh37
NC_000009.10:g.37774949A>G NCBI36
NG_032780.1:g.5141T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327304.10:c.93T>C MANE Select ENSP00000323046.4:p.Gly31=
ENST00000678095.1:c.-70-889T>C ENSP00000503205.1:n.-70-889T>C
ENST00000678588.1:n.113T>C
ENST00000679059.1:c.93T>C ENSP00000503947.1:p.Gly31=
ENST00000327304.9:c.93T>C ENSP00000323046.4:p.Gly31=
ENST00000396521.3:c.93T>C ENSP00000379775.3:p.Gly31=
ENST00000465229.5:c.93T>C ENSP00000418422.1:p.Gly31=
ENST00000482614.5:n.86-889T>C
ENST00000489414.5:n.44-889T>C
ENST00000540557.1:c.*761-889T>C ENSP00000457548.1:n.*761-889T>C
NM_001002269.2:c.93T>C NP_001002269.1:p.Gly31=
NM_016042.3:c.93T>C NP_057126.2:p.Gly31=
NM_016042.4:c.93T>C MANE Select NP_057126.2:p.Gly31=