Canonical Allele Identifier: CA5062859

Gene: EXOSC3

Linked Data

• dbSNP Id: rs770262381
• ExAC: 9:37784963 C / T
• gnomAD v2: 9-37784963-C-T
• gnomAD v3: 9-37784966-C-T
• gnomAD v4: 9-37784966-C-T
• MyVariant Identifiers: chr9:g.37784963C>T (hg19) ; chr9:g.37784966C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37784966C>T , CM000671.2:g.37784966C>T	GRCh38
NC_000009.11:g.37784963C>T , CM000671.1:g.37784963C>T	GRCh37
NC_000009.10:g.37774963C>T	NCBI36
NG_032780.1:g.5127G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000327304.10:c.79G>A MANE Select	ENSP00000323046.4:p.Val27Met
ENST00000678095.1:c.-70-903G>A	ENSP00000503205.1:n.-70-903G>A
ENST00000678588.1:n.99G>A
ENST00000679059.1:c.79G>A	ENSP00000503947.1:p.Val27Met
ENST00000327304.9:c.79G>A	ENSP00000323046.4:p.Val27Met
ENST00000396521.3:c.79G>A	ENSP00000379775.3:p.Val27Met
ENST00000465229.5:c.79G>A	ENSP00000418422.1:p.Val27Met
ENST00000482614.5:n.86-903G>A
ENST00000489414.5:n.44-903G>A
ENST00000540557.1:c.*761-903G>A	ENSP00000457548.1:n.*761-903G>A
NM_001002269.2:c.79G>A	NP_001002269.1:p.Val27Met
NM_016042.3:c.79G>A	NP_057126.2:p.Val27Met
NM_016042.4:c.79G>A MANE Select	NP_057126.2:p.Val27Met