Canonical Allele Identifier: CA373475399

Gene: EXOSC3

Linked Data

• MyVariant Identifiers: chr9:g.37783970C>A (hg19) ; chr9:g.37783973C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37783973C>A , CM000671.2:g.37783973C>A	GRCh38
NC_000009.11:g.37783970C>A , CM000671.1:g.37783970C>A	GRCh37
NC_000009.10:g.37773970C>A	NCBI36
NG_032780.1:g.6120G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327304.10:c.415G>T MANE Select	ENSP00000323046.4:p.Ala139Ser
ENST00000465860.6:n.116G>T
ENST00000678095.1:c.21G>T	ENSP00000503205.1:p.Gln7His
ENST00000678588.1:n.1092G>T
ENST00000679059.1:c.415G>T	ENSP00000503947.1:p.Ala139Ser
ENST00000327304.9:c.415G>T	ENSP00000323046.4:p.Ala139Ser
ENST00000396521.3:c.415G>T	ENSP00000379775.3:p.Ala139Ser
ENST00000465229.5:c.415G>T	ENSP00000418422.1:p.Ala139Ser
ENST00000465860.5:n.116G>T
ENST00000482614.5:n.176G>T
ENST00000489414.5:n.134G>T
ENST00000490516.5:n.421G>T
ENST00000496910.1:n.116G>T
ENST00000540557.1:c.*851G>T	ENSP00000457548.1:n.*851G>T
NM_001002269.2:c.415G>T	NP_001002269.1:p.Ala139Ser
NM_016042.3:c.415G>T	NP_057126.2:p.Ala139Ser
NM_016042.4:c.415G>T MANE Select	NP_057126.2:p.Ala139Ser