Canonical Allele Identifier: CA2184420933

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67187465C= , CM000677.2:g.67187465C=	GRCh38
NC_000015.9:g.67479803C= , CM000677.1:g.67479803C=	GRCh37
NC_000015.8:g.65266857C=	NCBI36
NG_011990.1:g.126609C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.525C=	ENSP00000454165.2:p.Cys175=
ENST00000558739.2:c.795C=	ENSP00000453684.2:p.Cys265=
ENST00000558827.2:c.525C=	ENSP00000452767.2:p.Cys175=
ENST00000559460.6:c.795C=	ENSP00000453082.2:p.Cys265=
ENST00000560424.2:c.1221C=	ENSP00000455540.2:p.Cys407=
ENST00000327367.9:c.1110C= MANE Select	ENSP00000332973.4:p.Cys370=
ENST00000679624.1:c.795C=	ENSP00000505445.1:p.Cys265=
ENST00000680689.1:n.813C=
ENST00000681239.1:c.795C=	ENSP00000505641.1:p.Cys265=
ENST00000327367.8:c.1110C=	ENSP00000332973.4:p.Cys370=
ENST00000439724.7:c.978C=	ENSP00000401133.3:p.Cys326=
ENST00000537194.6:c.525C=	ENSP00000445348.2:p.Cys175=
ENST00000540846.6:c.795C=	ENSP00000437757.2:p.Cys265=
ENST00000558763.1:n.804C=
ENST00000560402.1:n.283-5408C=
ENST00000560424.1:c.302C=
NM_001145102.1:c.795C=	NP_001138574.1:p.Cys265=
NM_001145103.1:c.978C=	NP_001138575.1:p.Cys326=
NM_001145104.1:c.525C=	NP_001138576.1:p.Cys175=
NM_005902.3:c.1110C=	NP_005893.1:p.Cys370=
XM_011521559.1:c.978C=	XP_011519861.1:p.Cys326=
XM_011521560.1:c.963C=	XP_011519862.1:p.Cys321=
XM_011521559.3:c.978C=	XP_011519861.1:p.Cys326=
NM_005902.4:c.1110C= MANE Select	NP_005893.1:p.Cys370=
NM_001145102.2:c.795C=	NP_001138574.1:p.Cys265=
NM_001145103.2:c.978C=	NP_001138575.1:p.Cys326=
NM_001145104.2:c.525C=	NP_001138576.1:p.Cys175=