Canonical Allele Identifier: CA2184420934
Gene: SMAD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67187467C= , CM000677.2:g.67187467C= GRCh38
NC_000015.9:g.67479805C= , CM000677.1:g.67479805C= GRCh37
NC_000015.8:g.65266859C= NCBI36
NG_011990.1:g.126611C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000558428.6:c.527C= ENSP00000454165.2:p.Thr176=
ENST00000558739.2:c.797C= ENSP00000453684.2:p.Thr266=
ENST00000558827.2:c.527C= ENSP00000452767.2:p.Thr176=
ENST00000559460.6:c.797C= ENSP00000453082.2:p.Thr266=
ENST00000560424.2:c.1223C= ENSP00000455540.2:p.Thr408=
ENST00000327367.9:c.1112C= MANE Select ENSP00000332973.4:p.Thr371=
ENST00000679624.1:c.797C= ENSP00000505445.1:p.Thr266=
ENST00000680689.1:n.815C=
ENST00000681239.1:c.797C= ENSP00000505641.1:p.Thr266=
ENST00000327367.8:c.1112C= ENSP00000332973.4:p.Thr371=
ENST00000439724.7:c.980C= ENSP00000401133.3:p.Thr327=
ENST00000537194.6:c.527C= ENSP00000445348.2:p.Thr176=
ENST00000540846.6:c.797C= ENSP00000437757.2:p.Thr266=
ENST00000558763.1:n.806C=
ENST00000560402.1:n.283-5406C=
ENST00000560424.1:c.304C=
NM_001145102.1:c.797C= NP_001138574.1:p.Thr266=
NM_001145103.1:c.980C= NP_001138575.1:p.Thr327=
NM_001145104.1:c.527C= NP_001138576.1:p.Thr176=
NM_005902.3:c.1112C= NP_005893.1:p.Thr371=
XM_011521559.1:c.980C= XP_011519861.1:p.Thr327=
XM_011521560.1:c.965C= XP_011519862.1:p.Thr322=
XM_011521559.3:c.980C= XP_011519861.1:p.Thr327=
NM_005902.4:c.1112C= MANE Select NP_005893.1:p.Thr371=
NM_001145102.2:c.797C= NP_001138574.1:p.Thr266=
NM_001145103.2:c.980C= NP_001138575.1:p.Thr327=
NM_001145104.2:c.527C= NP_001138576.1:p.Thr176=