Canonical Allele Identifier: CA2184419173

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67184740G= , CM000677.2:g.67184740G=	GRCh38
NC_000015.9:g.67477078G= , CM000677.1:g.67477078G=	GRCh37
NC_000015.8:g.65264132G=	NCBI36
NG_011990.1:g.123884G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.300G=	ENSP00000454165.2:p.Arg100=
ENST00000558739.2:c.570G=	ENSP00000453684.2:p.Arg190=
ENST00000558827.2:c.300G=	ENSP00000452767.2:p.Arg100=
ENST00000559460.6:c.570G=	ENSP00000453082.2:p.Arg190=
ENST00000560424.2:c.885G=	ENSP00000455540.2:p.Arg295=
ENST00000327367.9:c.885G= MANE Select	ENSP00000332973.4:p.Arg295=
ENST00000679624.1:c.570G=	ENSP00000505445.1:p.Arg190=
ENST00000680689.1:n.588G=
ENST00000681239.1:c.570G=	ENSP00000505641.1:p.Arg190=
ENST00000327367.8:c.885G=	ENSP00000332973.4:p.Arg295=
ENST00000439724.7:c.753G=	ENSP00000401133.3:p.Arg251=
ENST00000537194.6:c.300G=	ENSP00000445348.2:p.Arg100=
ENST00000540846.6:c.570G=	ENSP00000437757.2:p.Arg190=
ENST00000558827.1:c.300G=	ENSP00000452767.1:p.Arg100=
ENST00000558894.5:c.557-2625G=	ENSP00000458060.1:n.557-2625G=
ENST00000560402.1:n.283-8133G=
NM_001145102.1:c.570G=	NP_001138574.1:p.Arg190=
NM_001145103.1:c.753G=	NP_001138575.1:p.Arg251=
NM_001145104.1:c.300G=	NP_001138576.1:p.Arg100=
NM_005902.3:c.885G=	NP_005893.1:p.Arg295=
XM_011521559.1:c.753G=	XP_011519861.1:p.Arg251=
XM_011521560.1:c.738G=	XP_011519862.1:p.Arg246=
XM_011521559.3:c.753G=	XP_011519861.1:p.Arg251=
NM_005902.4:c.885G= MANE Select	NP_005893.1:p.Arg295=
NM_001145102.2:c.570G=	NP_001138574.1:p.Arg190=
NM_001145103.2:c.753G=	NP_001138575.1:p.Arg251=
NM_001145104.2:c.300G=	NP_001138576.1:p.Arg100=