Canonical Allele Identifier: CA2184410716
Gene: SMAD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67165289T= , CM000677.2:g.67165289T= GRCh38
NC_000015.9:g.67457627T= , CM000677.1:g.67457627T= GRCh37
NC_000015.8:g.65244681T= NCBI36
NG_011990.1:g.104433T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000558739.2:c.122T= ENSP00000453684.2:p.Ile41=
ENST00000559460.6:c.122T= ENSP00000453082.2:p.Ile41=
ENST00000560424.2:c.437T= ENSP00000455540.2:p.Ile146=
ENST00000327367.9:c.437T= MANE Select ENSP00000332973.4:p.Ile146=
ENST00000679624.1:c.122T= ENSP00000505445.1:p.Ile41=
ENST00000681239.1:c.122T= ENSP00000505641.1:p.Ile41=
ENST00000327367.8:c.437T= ENSP00000332973.4:p.Ile146=
ENST00000439724.7:c.305T= ENSP00000401133.3:p.Ile102=
ENST00000540846.6:c.122T= ENSP00000437757.2:p.Ile41=
ENST00000558739.1:c.122T= ENSP00000453684.1:p.Ile41=
ENST00000558894.5:c.122T= ENSP00000458060.1:p.Ile41=
ENST00000559460.5:c.122T= ENSP00000453082.1:p.Ile41=
ENST00000559937.1:n.287T=
ENST00000560175.5:c.122T= ENSP00000455095.1:p.Ile41=
NM_001145102.1:c.122T= NP_001138574.1:p.Ile41=
NM_001145103.1:c.305T= NP_001138575.1:p.Ile102=
NM_005902.3:c.437T= NP_005893.1:p.Ile146=
XM_011521559.1:c.400+201T= XP_011519861.1:n.400+201T=
XM_011521560.1:c.290T= XP_011519862.1:p.Ile97=
XM_011521559.3:c.400+201T= XP_011519861.1:n.400+201T=
NM_005902.4:c.437T= MANE Select NP_005893.1:p.Ile146=
NM_001145102.2:c.122T= NP_001138574.1:p.Ile41=
NM_001145103.2:c.305T= NP_001138575.1:p.Ile102=