Canonical Allele Identifier: CA373474712

Gene: EXOSC3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37780793C>T , CM000671.2:g.37780793C>T	GRCh38
NC_000009.11:g.37780790C>T , CM000671.1:g.37780790C>T	GRCh37
NC_000009.10:g.37770790C>T	NCBI36
NG_032780.1:g.9300G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016042.4:c.714G>A MANE Select	NP_057126.2:p.Trp238Ter
ENST00000327304.10:c.714G>A MANE Select	ENSP00000323046.4:p.Trp238Ter
NM_001002269.2:c.*67G>A	NP_001002269.1:n.*67G>A
NM_016042.3:c.714G>A	NP_057126.2:p.Trp238Ter
ENST00000327304.9:c.714G>A	ENSP00000323046.4:p.Trp238Ter
ENST00000396521.3:c.*67G>A	ENSP00000379775.3:n.*67G>A
ENST00000465229.5:c.*67G>A	ENSP00000418422.1:n.*67G>A
ENST00000465860.6:n.1520G>A
ENST00000489414.5:n.433G>A
ENST00000490516.5:n.568G>A
ENST00000540557.1:c.*910+3121G>A	ENSP00000457548.1:n.*910+3121G>A
ENST00000678095.1:c.168G>A	ENSP00000503205.1:p.Trp56Ter
ENST00000679059.1:c.*67G>A	ENSP00000503947.1:n.*67G>A