Canonical Allele Identifier: CA392955866
Gene: SMAD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67181261T>A , CM000677.2:g.67181261T>A GRCh38
NC_000015.9:g.67473599T>A , CM000677.1:g.67473599T>A GRCh37
NC_000015.8:g.65260653T>A NCBI36
NG_011990.1:g.120405T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000558428.6:c.94T>A ENSP00000454165.2:p.Cys32Ser
ENST00000558739.2:c.364T>A ENSP00000453684.2:p.Cys122Ser
ENST00000558827.2:c.94T>A ENSP00000452767.2:p.Cys32Ser
ENST00000559460.6:c.364T>A ENSP00000453082.2:p.Cys122Ser
ENST00000560424.2:c.679T>A ENSP00000455540.2:p.Cys227Ser
ENST00000327367.9:c.679T>A MANE Select ENSP00000332973.4:p.Cys227Ser
ENST00000679624.1:c.364T>A ENSP00000505445.1:p.Cys122Ser
ENST00000680689.1:n.382T>A
ENST00000681239.1:c.364T>A ENSP00000505641.1:p.Cys122Ser
ENST00000327367.8:c.679T>A ENSP00000332973.4:p.Cys227Ser
ENST00000439724.7:c.547T>A ENSP00000401133.3:p.Cys183Ser
ENST00000537194.6:c.94T>A ENSP00000445348.2:p.Cys32Ser
ENST00000540846.6:c.364T>A ENSP00000437757.2:p.Cys122Ser
ENST00000558428.5:c.94T>A ENSP00000454165.1:p.Cys32Ser
ENST00000558827.1:c.94T>A ENSP00000452767.1:p.Cys32Ser
ENST00000558894.5:c.364T>A ENSP00000458060.1:p.Cys122Ser
ENST00000560402.1:n.282+6677T>A
NM_001145102.1:c.364T>A NP_001138574.1:p.Cys122Ser
NM_001145103.1:c.547T>A NP_001138575.1:p.Cys183Ser
NM_001145104.1:c.94T>A NP_001138576.1:p.Cys32Ser
NM_005902.3:c.679T>A NP_005893.1:p.Cys227Ser
XM_011521559.1:c.547T>A XP_011519861.1:p.Cys183Ser
XM_011521560.1:c.532T>A XP_011519862.1:p.Cys178Ser
XM_011521559.3:c.547T>A XP_011519861.1:p.Cys183Ser
NM_005902.4:c.679T>A MANE Select NP_005893.1:p.Cys227Ser
NM_001145102.2:c.364T>A NP_001138574.1:p.Cys122Ser
NM_001145103.2:c.547T>A NP_001138575.1:p.Cys183Ser
NM_001145104.2:c.94T>A NP_001138576.1:p.Cys32Ser