Canonical Allele Identifier: CA392956169

Gene: SMAD3

Linked Data

• MyVariant Identifiers: chr15:g.67473663T>C (hg19) ; chr15:g.67181325T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67181325T>C , CM000677.2:g.67181325T>C	GRCh38
NC_000015.9:g.67473663T>C , CM000677.1:g.67473663T>C	GRCh37
NC_000015.8:g.65260717T>C	NCBI36
NG_011990.1:g.120469T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.158T>C	ENSP00000454165.2:p.Phe53Ser
ENST00000558739.2:c.428T>C	ENSP00000453684.2:p.Phe143Ser
ENST00000558827.2:c.158T>C	ENSP00000452767.2:p.Phe53Ser
ENST00000559460.6:c.428T>C	ENSP00000453082.2:p.Phe143Ser
ENST00000560424.2:c.743T>C	ENSP00000455540.2:p.Phe248Ser
ENST00000327367.9:c.743T>C MANE Select	ENSP00000332973.4:p.Phe248Ser
ENST00000679624.1:c.428T>C	ENSP00000505445.1:p.Phe143Ser
ENST00000680689.1:n.446T>C
ENST00000681239.1:c.428T>C	ENSP00000505641.1:p.Phe143Ser
ENST00000327367.8:c.743T>C	ENSP00000332973.4:p.Phe248Ser
ENST00000439724.7:c.611T>C	ENSP00000401133.3:p.Phe204Ser
ENST00000537194.6:c.158T>C	ENSP00000445348.2:p.Phe53Ser
ENST00000540846.6:c.428T>C	ENSP00000437757.2:p.Phe143Ser
ENST00000558428.5:c.158T>C	ENSP00000454165.1:p.Phe53Ser
ENST00000558827.1:c.158T>C	ENSP00000452767.1:p.Phe53Ser
ENST00000558894.5:c.428T>C	ENSP00000458060.1:p.Phe143Ser
ENST00000560402.1:n.282+6741T>C
NM_001145102.1:c.428T>C	NP_001138574.1:p.Phe143Ser
NM_001145103.1:c.611T>C	NP_001138575.1:p.Phe204Ser
NM_001145104.1:c.158T>C	NP_001138576.1:p.Phe53Ser
NM_005902.3:c.743T>C	NP_005893.1:p.Phe248Ser
XM_011521559.1:c.611T>C	XP_011519861.1:p.Phe204Ser
XM_011521560.1:c.596T>C	XP_011519862.1:p.Phe199Ser
XM_011521559.3:c.611T>C	XP_011519861.1:p.Phe204Ser
NM_005902.4:c.743T>C MANE Select	NP_005893.1:p.Phe248Ser
NM_001145102.2:c.428T>C	NP_001138574.1:p.Phe143Ser
NM_001145103.2:c.611T>C	NP_001138575.1:p.Phe204Ser
NM_001145104.2:c.158T>C	NP_001138576.1:p.Phe53Ser