Canonical Allele Identifier: CA373475243

Gene: EXOSC3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37782130T>C , CM000671.2:g.37782130T>C	GRCh38
NC_000009.11:g.37782127T>C , CM000671.1:g.37782127T>C	GRCh37
NC_000009.10:g.37772127T>C	NCBI36
NG_032780.1:g.7963A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_016042.4:c.482A>G MANE Select	NP_057126.2:p.Asp161Gly
ENST00000327304.10:c.482A>G MANE Select	ENSP00000323046.4:p.Asp161Gly
NM_001002269.2:c.475-1250A>G	NP_001002269.1:n.475-1250A>G
NM_016042.3:c.482A>G	NP_057126.2:p.Asp161Gly
ENST00000327304.9:c.482A>G	ENSP00000323046.4:p.Asp161Gly
ENST00000396521.3:c.475-1250A>G	ENSP00000379775.3:n.475-1250A>G
ENST00000465229.5:c.475-1250A>G	ENSP00000418422.1:n.475-1250A>G
ENST00000465860.5:n.183A>G
ENST00000465860.6:n.183A>G
ENST00000482614.5:n.243A>G
ENST00000489414.5:n.201A>G
ENST00000490516.5:n.481-1250A>G
ENST00000540557.1:c.*910+1784A>G	ENSP00000457548.1:n.*910+1784A>G
ENST00000678095.1:c.81-1250A>G	ENSP00000503205.1:n.81-1250A>G
ENST00000678588.1:n.1159A>G
ENST00000679059.1:c.475-1250A>G	ENSP00000503947.1:n.475-1250A>G