Canonical Allele Identifier: CA392953418
Gene: SMAD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67164896T>A , CM000677.2:g.67164896T>A GRCh38
NC_000015.9:g.67457234T>A , CM000677.1:g.67457234T>A GRCh37
NC_000015.8:g.65244288T>A NCBI36
NG_011990.1:g.104040T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000558739.2:c.-108T>A ENSP00000453684.2:n.-108T>A
ENST00000559460.6:c.-108T>A ENSP00000453082.2:n.-108T>A
ENST00000560424.2:c.208T>A ENSP00000455540.2:p.Ser70Thr
ENST00000327367.9:c.208T>A MANE Select ENSP00000332973.4:p.Ser70Thr
ENST00000679624.1:c.-108T>A ENSP00000505445.1:n.-108T>A
ENST00000681239.1:c.-108T>A ENSP00000505641.1:n.-108T>A
ENST00000327367.8:c.208T>A ENSP00000332973.4:p.Ser70Thr
ENST00000439724.7:c.76T>A ENSP00000401133.3:p.Ser26Thr
ENST00000540846.6:c.-108T>A ENSP00000437757.2:n.-108T>A
ENST00000558739.1:c.-108T>A ENSP00000453684.1:n.-108T>A
ENST00000558894.5:c.-108T>A ENSP00000458060.1:n.-108T>A
ENST00000559092.1:c.153T>A ENSP00000453788.1:p.Cys51Ter
ENST00000559460.5:c.-108T>A ENSP00000453082.1:n.-108T>A
ENST00000559937.1:n.58T>A
ENST00000560175.5:c.-108T>A ENSP00000455095.1:n.-108T>A
NM_001145102.1:c.-108T>A NP_001138574.1:n.-108T>A
NM_001145103.1:c.76T>A NP_001138575.1:p.Ser26Thr
NM_005902.3:c.208T>A NP_005893.1:p.Ser70Thr
XM_011521559.1:c.208T>A XP_011519861.1:p.Ser70Thr
XM_011521560.1:c.61T>A XP_011519862.1:p.Ser21Thr
XM_011521559.3:c.208T>A XP_011519861.1:p.Ser70Thr
NM_005902.4:c.208T>A MANE Select NP_005893.1:p.Ser70Thr
NM_001145102.2:c.-108T>A NP_001138574.1:n.-108T>A
NM_001145103.2:c.76T>A NP_001138575.1:p.Ser26Thr