Canonical Allele Identifier: CA392958275

Gene: SMAD3

Linked Data

• MyVariant Identifiers: chr15:g.67479804A>G (hg19) ; chr15:g.67187466A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67187466A>G , CM000677.2:g.67187466A>G	GRCh38
NC_000015.9:g.67479804A>G , CM000677.1:g.67479804A>G	GRCh37
NC_000015.8:g.65266858A>G	NCBI36
NG_011990.1:g.126610A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.526A>G	ENSP00000454165.2:p.Thr176Ala
ENST00000558739.2:c.796A>G	ENSP00000453684.2:p.Thr266Ala
ENST00000558827.2:c.526A>G	ENSP00000452767.2:p.Thr176Ala
ENST00000559460.6:c.796A>G	ENSP00000453082.2:p.Thr266Ala
ENST00000560424.2:c.1222A>G	ENSP00000455540.2:p.Thr408Ala
ENST00000327367.9:c.1111A>G MANE Select	ENSP00000332973.4:p.Thr371Ala
ENST00000679624.1:c.796A>G	ENSP00000505445.1:p.Thr266Ala
ENST00000680689.1:n.814A>G
ENST00000681239.1:c.796A>G	ENSP00000505641.1:p.Thr266Ala
ENST00000327367.8:c.1111A>G	ENSP00000332973.4:p.Thr371Ala
ENST00000439724.7:c.979A>G	ENSP00000401133.3:p.Thr327Ala
ENST00000537194.6:c.526A>G	ENSP00000445348.2:p.Thr176Ala
ENST00000540846.6:c.796A>G	ENSP00000437757.2:p.Thr266Ala
ENST00000558763.1:n.805A>G
ENST00000560402.1:n.283-5407A>G
ENST00000560424.1:c.303A>G
NM_001145102.1:c.796A>G	NP_001138574.1:p.Thr266Ala
NM_001145103.1:c.979A>G	NP_001138575.1:p.Thr327Ala
NM_001145104.1:c.526A>G	NP_001138576.1:p.Thr176Ala
NM_005902.3:c.1111A>G	NP_005893.1:p.Thr371Ala
XM_011521559.1:c.979A>G	XP_011519861.1:p.Thr327Ala
XM_011521560.1:c.964A>G	XP_011519862.1:p.Thr322Ala
XM_011521559.3:c.979A>G	XP_011519861.1:p.Thr327Ala
NM_005902.4:c.1111A>G MANE Select	NP_005893.1:p.Thr371Ala
NM_001145102.2:c.796A>G	NP_001138574.1:p.Thr266Ala
NM_001145103.2:c.979A>G	NP_001138575.1:p.Thr327Ala
NM_001145104.2:c.526A>G	NP_001138576.1:p.Thr176Ala