Canonical Allele Identifier: CA392953919
Gene: SMAD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67164971C>T , CM000677.2:g.67164971C>T GRCh38
NC_000015.9:g.67457309C>T , CM000677.1:g.67457309C>T GRCh37
NC_000015.8:g.65244363C>T NCBI36
NG_011990.1:g.104115C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000558739.2:c.-33C>T ENSP00000453684.2:n.-33C>T
ENST00000559460.6:c.-33C>T ENSP00000453082.2:n.-33C>T
ENST00000560424.2:c.283C>T ENSP00000455540.2:p.Pro95Ser
ENST00000327367.9:c.283C>T MANE Select ENSP00000332973.4:p.Pro95Ser
ENST00000679624.1:c.-33C>T ENSP00000505445.1:n.-33C>T
ENST00000681239.1:c.-33C>T ENSP00000505641.1:n.-33C>T
ENST00000327367.8:c.283C>T ENSP00000332973.4:p.Pro95Ser
ENST00000439724.7:c.151C>T ENSP00000401133.3:p.Pro51Ser
ENST00000540846.6:c.-33C>T ENSP00000437757.2:n.-33C>T
ENST00000558739.1:c.-33C>T ENSP00000453684.1:n.-33C>T
ENST00000558894.5:c.-33C>T ENSP00000458060.1:n.-33C>T
ENST00000559092.1:c.228C>T ENSP00000453788.1:p.Gly76=
ENST00000559460.5:c.-33C>T ENSP00000453082.1:n.-33C>T
ENST00000559937.1:n.133C>T
ENST00000560175.5:c.-33C>T ENSP00000455095.1:n.-33C>T
NM_001145102.1:c.-33C>T NP_001138574.1:n.-33C>T
NM_001145103.1:c.151C>T NP_001138575.1:p.Pro51Ser
NM_005902.3:c.283C>T NP_005893.1:p.Pro95Ser
XM_011521559.1:c.283C>T XP_011519861.1:p.Pro95Ser
XM_011521560.1:c.136C>T XP_011519862.1:p.Pro46Ser
XM_011521559.3:c.283C>T XP_011519861.1:p.Pro95Ser
NM_005902.4:c.283C>T MANE Select NP_005893.1:p.Pro95Ser
NM_001145102.2:c.-33C>T NP_001138574.1:n.-33C>T
NM_001145103.2:c.151C>T NP_001138575.1:p.Pro51Ser