Canonical Allele Identifier: CA392953914
Gene: SMAD3 HGNC NCBI

Linked Data

dbSNP Id: rs2140293926

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67164970G>A , CM000677.2:g.67164970G>A GRCh38
NC_000015.9:g.67457308G>A , CM000677.1:g.67457308G>A GRCh37
NC_000015.8:g.65244362G>A NCBI36
NG_011990.1:g.104114G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000558739.2:c.-34G>A ENSP00000453684.2:n.-34G>A
ENST00000559460.6:c.-34G>A ENSP00000453082.2:n.-34G>A
ENST00000560424.2:c.282G>A ENSP00000455540.2:p.Trp94Ter
ENST00000327367.9:c.282G>A MANE Select ENSP00000332973.4:p.Trp94Ter
ENST00000679624.1:c.-34G>A ENSP00000505445.1:n.-34G>A
ENST00000681239.1:c.-34G>A ENSP00000505641.1:n.-34G>A
ENST00000327367.8:c.282G>A ENSP00000332973.4:p.Trp94Ter
ENST00000439724.7:c.150G>A ENSP00000401133.3:p.Trp50Ter
ENST00000540846.6:c.-34G>A ENSP00000437757.2:n.-34G>A
ENST00000558739.1:c.-34G>A ENSP00000453684.1:n.-34G>A
ENST00000558894.5:c.-34G>A ENSP00000458060.1:n.-34G>A
ENST00000559092.1:c.227G>A ENSP00000453788.1:p.Gly76Asp
ENST00000559460.5:c.-34G>A ENSP00000453082.1:n.-34G>A
ENST00000559937.1:n.132G>A
ENST00000560175.5:c.-34G>A ENSP00000455095.1:n.-34G>A
NM_001145102.1:c.-34G>A NP_001138574.1:n.-34G>A
NM_001145103.1:c.150G>A NP_001138575.1:p.Trp50Ter
NM_005902.3:c.282G>A NP_005893.1:p.Trp94Ter
XM_011521559.1:c.282G>A XP_011519861.1:p.Trp94Ter
XM_011521560.1:c.135G>A XP_011519862.1:p.Trp45Ter
XM_011521559.3:c.282G>A XP_011519861.1:p.Trp94Ter
NM_005902.4:c.282G>A MANE Select NP_005893.1:p.Trp94Ter
NM_001145102.2:c.-34G>A NP_001138574.1:n.-34G>A
NM_001145103.2:c.150G>A NP_001138575.1:p.Trp50Ter