Canonical Allele Identifier: CA5062778

Gene: EXOSC3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37784069A>G , CM000671.2:g.37784069A>G	GRCh38
NC_000009.11:g.37784066A>G , CM000671.1:g.37784066A>G	GRCh37
NC_000009.10:g.37774066A>G	NCBI36
NG_032780.1:g.6024T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_016042.4:c.325-6T>C MANE Select	NP_057126.2:n.325-6T>C
ENST00000327304.10:c.325-6T>C MANE Select	ENSP00000323046.4:n.325-6T>C
NM_001002269.2:c.325-6T>C	NP_001002269.1:n.325-6T>C
NM_016042.3:c.325-6T>C	NP_057126.2:n.325-6T>C
ENST00000327304.9:c.325-6T>C	ENSP00000323046.4:n.325-6T>C
ENST00000396521.3:c.325-6T>C	ENSP00000379775.3:n.325-6T>C
ENST00000465229.5:c.325-6T>C	ENSP00000418422.1:n.325-6T>C
ENST00000465860.5:n.26-6T>C
ENST00000465860.6:n.26-6T>C
ENST00000482614.5:n.86-6T>C
ENST00000489414.5:n.44-6T>C
ENST00000490516.5:n.331-6T>C
ENST00000496910.1:n.26-6T>C
ENST00000540557.1:c.*761-6T>C	ENSP00000457548.1:n.*761-6T>C
ENST00000678095.1:c.-70-6T>C	ENSP00000503205.1:n.-70-6T>C
ENST00000678588.1:n.996T>C
ENST00000679059.1:c.325-6T>C	ENSP00000503947.1:n.325-6T>C