Canonical Allele Identifier: CA358041991

Gene: EXOSC9

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121802751T>G , CM000666.2:g.121802751T>G	GRCh38
NC_000004.11:g.122723906T>G , CM000666.1:g.122723906T>G	GRCh37
NC_000004.10:g.122943356T>G	NCBI36
NG_029848.1:g.6435T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005033.3:c.239T>G MANE Select	NP_005024.2:p.Leu80Arg
ENST00000243498.10:c.239T>G MANE Select	ENSP00000243498.5:p.Leu80Arg
NM_001034194.1:c.239T>G	NP_001029366.1:p.Leu80Arg
NM_001034194.2:c.239T>G	NP_001029366.1:p.Leu80Arg
NM_005033.2:c.239T>G	NP_005024.2:p.Leu80Arg
ENST00000243498.9:c.239T>G	ENSP00000243498.5:p.Leu80Arg
ENST00000379663.7:c.239T>G	ENSP00000368984.3:p.Leu80Arg
ENST00000508212.5:n.14T>G
ENST00000509800.5:c.239T>G	ENSP00000422205.1:p.Leu80Arg
ENST00000509980.5:n.346T>G
ENST00000511454.5:c.220+19T>G	ENSP00000421845.1:n.220+19T>G
ENST00000512454.5:c.191T>G	ENSP00000425782.1:p.Leu64Arg
ENST00000513654.5:c.239T>G	ENSP00000423476.1:p.Leu80Arg
XM_011532035.1:c.239T>G	XP_011530337.1:p.Leu80Arg
XM_011532035.3:c.239T>G	XP_011530337.1:p.Leu80Arg
XR_001741241.2:n.339T>G