Canonical Allele Identifier: CA358042344

Gene: EXOSC9

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121804627G>C , CM000666.2:g.121804627G>C	GRCh38
NC_000004.11:g.122725782G>C , CM000666.1:g.122725782G>C	GRCh37
NC_000004.10:g.122945232G>C	NCBI36
NG_029848.1:g.8311G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005033.3:c.390G>C MANE Select	NP_005024.2:p.Trp130Cys
ENST00000243498.10:c.390G>C MANE Select	ENSP00000243498.5:p.Trp130Cys
NM_001034194.1:c.390G>C	NP_001029366.1:p.Trp130Cys
NM_001034194.2:c.390G>C	NP_001029366.1:p.Trp130Cys
NM_005033.2:c.390G>C	NP_005024.2:p.Trp130Cys
ENST00000243498.9:c.390G>C	ENSP00000243498.5:p.Trp130Cys
ENST00000379663.7:c.390G>C	ENSP00000368984.3:p.Trp130Cys
ENST00000506201.1:n.129G>C
ENST00000508212.5:n.165G>C
ENST00000509800.5:c.384+1610G>C	ENSP00000422205.1:n.384+1610G>C
ENST00000509980.5:n.497G>C
ENST00000511454.5:c.226G>C	ENSP00000421845.1:p.Ala76Pro
ENST00000512454.5:c.342G>C	ENSP00000425782.1:p.Trp114Cys
ENST00000513654.5:c.390G>C	ENSP00000423476.1:p.Trp130Cys
XM_011532035.1:c.390G>C	XP_011530337.1:p.Trp130Cys
XM_011532035.3:c.390G>C	XP_011530337.1:p.Trp130Cys
XR_001741241.2:n.490G>C