Canonical Allele Identifier: CA16619995

Gene: SMAD3

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67187457C>T , CM000677.2:g.67187457C>T	GRCh38
NC_000015.9:g.67479795C>T , CM000677.1:g.67479795C>T	GRCh37
NC_000015.8:g.65266849C>T	NCBI36
NG_011990.1:g.126601C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.517C>T	ENSP00000454165.2:p.Arg173Ter
ENST00000558739.2:c.787C>T	ENSP00000453684.2:p.Arg263Ter
ENST00000558827.2:c.517C>T	ENSP00000452767.2:p.Arg173Ter
ENST00000559460.6:c.787C>T	ENSP00000453082.2:p.Arg263Ter
ENST00000560424.2:c.1213C>T	ENSP00000455540.2:p.Arg405Ter
ENST00000327367.9:c.1102C>T MANE Select	ENSP00000332973.4:p.Arg368Ter
ENST00000679624.1:c.787C>T	ENSP00000505445.1:p.Arg263Ter
ENST00000680689.1:n.805C>T
ENST00000681239.1:c.787C>T	ENSP00000505641.1:p.Arg263Ter
ENST00000327367.8:c.1102C>T	ENSP00000332973.4:p.Arg368Ter
ENST00000439724.7:c.970C>T	ENSP00000401133.3:p.Arg324Ter
ENST00000537194.6:c.517C>T	ENSP00000445348.2:p.Arg173Ter
ENST00000540846.6:c.787C>T	ENSP00000437757.2:p.Arg263Ter
ENST00000558763.1:n.796C>T
ENST00000560402.1:n.283-5416C>T
ENST00000560424.1:c.294C>T
NM_001145102.1:c.787C>T	NP_001138574.1:p.Arg263Ter
NM_001145103.1:c.970C>T	NP_001138575.1:p.Arg324Ter
NM_001145104.1:c.517C>T	NP_001138576.1:p.Arg173Ter
NM_005902.3:c.1102C>T	NP_005893.1:p.Arg368Ter
XM_011521559.1:c.970C>T	XP_011519861.1:p.Arg324Ter
XM_011521560.1:c.955C>T	XP_011519862.1:p.Arg319Ter
XM_011521559.3:c.970C>T	XP_011519861.1:p.Arg324Ter
NM_005902.4:c.1102C>T MANE Select	NP_005893.1:p.Arg368Ter
NM_001145102.2:c.787C>T	NP_001138574.1:p.Arg263Ter
NM_001145103.2:c.970C>T	NP_001138575.1:p.Arg324Ter
NM_001145104.2:c.517C>T	NP_001138576.1:p.Arg173Ter