Canonical Allele Identifier: CA392954284

Gene: SMAD3

Linked Data

• MyVariant Identifiers: chr15:g.67457620A>C (hg19) ; chr15:g.67165282A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165282A>C , CM000677.2:g.67165282A>C	GRCh38
NC_000015.9:g.67457620A>C , CM000677.1:g.67457620A>C	GRCh37
NC_000015.8:g.65244674A>C	NCBI36
NG_011990.1:g.104426A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.115A>C	ENSP00000453684.2:p.Thr39Pro
ENST00000559460.6:c.115A>C	ENSP00000453082.2:p.Thr39Pro
ENST00000560424.2:c.430A>C	ENSP00000455540.2:p.Thr144Pro
ENST00000327367.9:c.430A>C MANE Select	ENSP00000332973.4:p.Thr144Pro
ENST00000679624.1:c.115A>C	ENSP00000505445.1:p.Thr39Pro
ENST00000681239.1:c.115A>C	ENSP00000505641.1:p.Thr39Pro
ENST00000327367.8:c.430A>C	ENSP00000332973.4:p.Thr144Pro
ENST00000439724.7:c.298A>C	ENSP00000401133.3:p.Thr100Pro
ENST00000540846.6:c.115A>C	ENSP00000437757.2:p.Thr39Pro
ENST00000558739.1:c.115A>C	ENSP00000453684.1:p.Thr39Pro
ENST00000558894.5:c.115A>C	ENSP00000458060.1:p.Thr39Pro
ENST00000559460.5:c.115A>C	ENSP00000453082.1:p.Thr39Pro
ENST00000559937.1:n.280A>C
ENST00000560175.5:c.115A>C	ENSP00000455095.1:p.Thr39Pro
NM_001145102.1:c.115A>C	NP_001138574.1:p.Thr39Pro
NM_001145103.1:c.298A>C	NP_001138575.1:p.Thr100Pro
NM_005902.3:c.430A>C	NP_005893.1:p.Thr144Pro
XM_011521559.1:c.400+194A>C	XP_011519861.1:n.400+194A>C
XM_011521560.1:c.283A>C	XP_011519862.1:p.Thr95Pro
XM_011521559.3:c.400+194A>C	XP_011519861.1:n.400+194A>C
NM_005902.4:c.430A>C MANE Select	NP_005893.1:p.Thr144Pro
NM_001145102.2:c.115A>C	NP_001138574.1:p.Thr39Pro
NM_001145103.2:c.298A>C	NP_001138575.1:p.Thr100Pro