Canonical Allele Identifier: CA2184369208

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066280C= , CM000677.2:g.67066280C=	GRCh38
NC_000015.9:g.67358618C= , CM000677.1:g.67358618C=	GRCh37
NC_000015.8:g.65145672C=	NCBI36
NG_011990.1:g.5424C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2336C=	ENSP00000453082.2:n.-110+2336C=
ENST00000560424.2:c.126C=	ENSP00000455540.2:p.Leu42=
ENST00000327367.9:c.126C= MANE Select	ENSP00000332973.4:p.Leu42=
ENST00000327367.8:c.126C=	ENSP00000332973.4:p.Leu42=
ENST00000559460.5:c.-110+2336C=	ENSP00000453082.1:n.-110+2336C=
NM_005902.3:c.126C=	NP_005893.1:p.Leu42=
XM_011521559.1:c.126C=	XP_011519861.1:p.Leu42=
XM_011521559.3:c.126C=	XP_011519861.1:p.Leu42=
NM_005902.4:c.126C= MANE Select	NP_005893.1:p.Leu42=