Canonical Allele Identifier: CA272443384
Gene: SMAD3 HGNC NCBI

Linked Data

dbSNP Id: rs1042425414

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67145425G>A , CM000677.2:g.67145425G>A GRCh38
NC_000015.9:g.67437763G>A , CM000677.1:g.67437763G>A GRCh37
NC_000015.8:g.65224817G>A NCBI36
NG_011990.1:g.84569G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000558739.2:c.-110+6903G>A ENSP00000453684.2:n.-110+6903G>A
ENST00000559460.6:c.-109-19470G>A ENSP00000453082.2:n.-109-19470G>A
ENST00000560424.2:c.207-19470G>A ENSP00000455540.2:n.207-19470G>A
ENST00000327367.9:c.207-19470G>A MANE Select ENSP00000332973.4:n.207-19470G>A
ENST00000679624.1:c.-109-19470G>A ENSP00000505445.1:n.-109-19470G>A
ENST00000681239.1:c.-110+5703G>A ENSP00000505641.1:n.-110+5703G>A
ENST00000327367.8:c.207-19470G>A ENSP00000332973.4:n.207-19470G>A
ENST00000439724.7:c.74+7325G>A ENSP00000401133.3:n.74+7325G>A
ENST00000540846.6:c.-110+19441G>A ENSP00000437757.2:n.-110+19441G>A
ENST00000558739.1:c.-110+6903G>A ENSP00000453684.1:n.-110+6903G>A
ENST00000558894.5:c.-110+17274G>A ENSP00000458060.1:n.-110+17274G>A
ENST00000559092.1:c.152-19470G>A ENSP00000453788.1:n.152-19470G>A
ENST00000559460.5:c.-109-19470G>A ENSP00000453082.1:n.-109-19470G>A
ENST00000559937.1:n.57-19470G>A
ENST00000560175.5:c.-109-19470G>A ENSP00000455095.1:n.-109-19470G>A
NM_001145102.1:c.-110+19441G>A NP_001138574.1:n.-110+19441G>A
NM_001145103.1:c.74+7325G>A NP_001138575.1:n.74+7325G>A
NM_005902.3:c.207-19470G>A NP_005893.1:n.207-19470G>A
XM_011521559.1:c.207-19470G>A XP_011519861.1:n.207-19470G>A
XM_011521560.1:c.60-19470G>A XP_011519862.1:n.60-19470G>A
XM_011521559.3:c.207-19470G>A XP_011519861.1:n.207-19470G>A
NM_005902.4:c.207-19470G>A MANE Select NP_005893.1:n.207-19470G>A
NM_001145102.2:c.-110+19441G>A NP_001138574.1:n.-110+19441G>A
NM_001145103.2:c.74+7325G>A NP_001138575.1:n.74+7325G>A