Canonical Allele Identifier: CA490914502
Gene: SMAD3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.67473622C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67181284C>A , CM000677.2:g.67181284C>A GRCh38
NC_000015.9:g.67473622C>A , CM000677.1:g.67473622C>A GRCh37
NC_000015.8:g.65260676C>A NCBI36
NG_011990.1:g.120428C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000558428.6:c.117C>A ENSP00000454165.2:p.Ser39=
ENST00000558739.2:c.387C>A ENSP00000453684.2:p.Ser129=
ENST00000558827.2:c.117C>A ENSP00000452767.2:p.Ser39=
ENST00000559460.6:c.387C>A ENSP00000453082.2:p.Ser129=
ENST00000560424.2:c.702C>A ENSP00000455540.2:p.Ser234=
ENST00000327367.9:c.702C>A MANE Select ENSP00000332973.4:p.Ser234=
ENST00000679624.1:c.387C>A ENSP00000505445.1:p.Ser129=
ENST00000680689.1:n.405C>A
ENST00000681239.1:c.387C>A ENSP00000505641.1:p.Ser129=
ENST00000327367.8:c.702C>A ENSP00000332973.4:p.Ser234=
ENST00000439724.7:c.570C>A ENSP00000401133.3:p.Ser190=
ENST00000537194.6:c.117C>A ENSP00000445348.2:p.Ser39=
ENST00000540846.6:c.387C>A ENSP00000437757.2:p.Ser129=
ENST00000558428.5:c.117C>A ENSP00000454165.1:p.Ser39=
ENST00000558827.1:c.117C>A ENSP00000452767.1:p.Ser39=
ENST00000558894.5:c.387C>A ENSP00000458060.1:p.Ser129=
ENST00000560402.1:n.282+6700C>A
NM_001145102.1:c.387C>A NP_001138574.1:p.Ser129=
NM_001145103.1:c.570C>A NP_001138575.1:p.Ser190=
NM_001145104.1:c.117C>A NP_001138576.1:p.Ser39=
NM_005902.3:c.702C>A NP_005893.1:p.Ser234=
XM_011521559.1:c.570C>A XP_011519861.1:p.Ser190=
XM_011521560.1:c.555C>A XP_011519862.1:p.Ser185=
XM_011521559.3:c.570C>A XP_011519861.1:p.Ser190=
NM_005902.4:c.702C>A MANE Select NP_005893.1:p.Ser234=
NM_001145102.2:c.387C>A NP_001138574.1:p.Ser129=
NM_001145103.2:c.570C>A NP_001138575.1:p.Ser190=
NM_001145104.2:c.117C>A NP_001138576.1:p.Ser39=