Canonical Allele Identifier: CA1847108174
Community Standard Title: NM_016042.4(EXOSC3):c.712T= (p.Trp238=)
Gene: EXOSC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37780795A= , CM000671.2:g.37780795A= GRCh38
NC_000009.11:g.37780792A= , CM000671.1:g.37780792A= GRCh37
NC_000009.10:g.37770792A= NCBI36
NG_032780.1:g.9298T=

Transcript Alleles

HGVS Amino-acid Change
NM_016042.4:c.712T= MANE Select NP_057126.2:p.Trp238=
ENST00000327304.10:c.712T= MANE Select ENSP00000323046.4:p.Trp238=
NM_001002269.2:c.*65T= NP_001002269.1:n.*65T=
NM_016042.3:c.712T= NP_057126.2:p.Trp238=
ENST00000327304.9:c.712T= ENSP00000323046.4:p.Trp238=
ENST00000396521.3:c.*65T= ENSP00000379775.3:n.*65T=
ENST00000465229.5:c.*65T= ENSP00000418422.1:n.*65T=
ENST00000465860.6:n.1518T=
ENST00000489414.5:n.431T=
ENST00000490516.5:n.566T=
ENST00000540557.1:c.*910+3119T= ENSP00000457548.1:n.*910+3119T=
ENST00000678095.1:c.166T= ENSP00000503205.1:p.Trp56=
ENST00000679059.1:c.*65T= ENSP00000503947.1:n.*65T=