Canonical Allele Identifier: CA2184369020

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066195G= , CM000677.2:g.67066195G=	GRCh38
NC_000015.9:g.67358533G= , CM000677.1:g.67358533G=	GRCh37
NC_000015.8:g.65145587G=	NCBI36
NG_011990.1:g.5339G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2251G=	ENSP00000453082.2:n.-110+2251G=
ENST00000560424.2:c.41G=	ENSP00000455540.2:p.Arg14=
ENST00000327367.9:c.41G= MANE Select	ENSP00000332973.4:p.Arg14=
ENST00000327367.8:c.41G=	ENSP00000332973.4:p.Arg14=
ENST00000559460.5:c.-110+2251G=	ENSP00000453082.1:n.-110+2251G=
NM_005902.3:c.41G=	NP_005893.1:p.Arg14=
XM_011521559.1:c.41G=	XP_011519861.1:p.Arg14=
XM_011521559.3:c.41G=	XP_011519861.1:p.Arg14=
NM_005902.4:c.41G= MANE Select	NP_005893.1:p.Arg14=