Canonical Allele Identifier: CA5062850

Gene: EXOSC3

Linked Data

• dbSNP Id: rs757129344
• ExAC: 9:37784908 G / A
• gnomAD v2: 9-37784908-G-A
• gnomAD v4: 9-37784911-G-A
• MyVariant Identifiers: chr9:g.37784908G>A (hg19) ; chr9:g.37784911G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37784911G>A , CM000671.2:g.37784911G>A	GRCh38
NC_000009.11:g.37784908G>A , CM000671.1:g.37784908G>A	GRCh37
NC_000009.10:g.37774908G>A	NCBI36
NG_032780.1:g.5182C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327304.10:c.134C>T MANE Select	ENSP00000323046.4:p.Pro45Leu
ENST00000678095.1:c.-70-848C>T	ENSP00000503205.1:n.-70-848C>T
ENST00000678588.1:n.154C>T
ENST00000679059.1:c.134C>T	ENSP00000503947.1:p.Pro45Leu
ENST00000327304.9:c.134C>T	ENSP00000323046.4:p.Pro45Leu
ENST00000396521.3:c.134C>T	ENSP00000379775.3:p.Pro45Leu
ENST00000465229.5:c.134C>T	ENSP00000418422.1:p.Pro45Leu
ENST00000482614.5:n.86-848C>T
ENST00000489414.5:n.44-848C>T
ENST00000540557.1:c.*761-848C>T	ENSP00000457548.1:n.*761-848C>T
NM_001002269.2:c.134C>T	NP_001002269.1:p.Pro45Leu
NM_016042.3:c.134C>T	NP_057126.2:p.Pro45Leu
NM_016042.4:c.134C>T MANE Select	NP_057126.2:p.Pro45Leu