Canonical Allele Identifier: CA4640685

Gene: TUSC3

Linked Data

• dbSNP Id: rs200667343
• ExAC: 8:15605938 C / G
• gnomAD v2: 8-15605938-C-G
• MyVariant Identifiers: chr8:g.15605938C>G (hg19) ; chr8:g.15748429C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.15748429C>G , CM000670.2:g.15748429C>G	GRCh38
NC_000008.10:g.15605938C>G , CM000670.1:g.15605938C>G	GRCh37
NC_000008.9:g.15650309C>G	NCBI36
NG_012141.2:g.213209C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000503731.6:c.992C>G MANE Select	ENSP00000424544.1:p.Ser331Ter
ENST00000382020.8:c.992C>G	ENSP00000371450.4:p.Ser331Ter
ENST00000503731.5:c.992C>G	ENSP00000424544.1:p.Ser331Ter
ENST00000506802.5:c.937+4817C>G	ENSP00000425777.1:n.937+4817C>G
ENST00000507316.1:n.224C>G
ENST00000508446.1:n.241+4817C>G
ENST00000510836.5:c.*42+4817C>G	ENSP00000426973.1:n.*42+4817C>G
ENST00000511342.1:n.138C>G
ENST00000511783.2:c.854C>G	ENSP00000426880.2:p.Ser285Ter
ENST00000515859.5:c.*97C>G	ENSP00000420829.1:n.*97C>G
NM_006765.3:c.992C>G	NP_006756.2:p.Ser331Ter
NM_178234.2:c.992C>G	NP_839952.1:p.Ser331Ter
XM_011544651.1:c.824C>G	XP_011542953.1:p.Ser275Ter
XM_011544652.1:c.824C>G	XP_011542954.1:p.Ser275Ter
XM_011544653.1:c.824C>G	XP_011542955.1:p.Ser275Ter
XM_011544654.1:c.769+4817C>G	XP_011542956.1:n.769+4817C>G
NM_001356429.1:c.992C>G	NP_001343358.1:p.Ser331Ter
XM_011544651.3:c.824C>G	XP_011542953.1:p.Ser275Ter
XM_017013861.2:c.824C>G	XP_016869350.1:p.Ser275Ter
NM_001356429.2:c.992C>G	NP_001343358.1:p.Ser331Ter
NM_006765.4:c.992C>G MANE Select	NP_006756.2:p.Ser331Ter