Canonical Allele Identifier: CA392954061

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165023C>A , CM000677.2:g.67165023C>A	GRCh38
NC_000015.9:g.67457361C>A , CM000677.1:g.67457361C>A	GRCh37
NC_000015.8:g.65244415C>A	NCBI36
NG_011990.1:g.104167C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005902.4:c.335C>A MANE Select	NP_005893.1:p.Ala112Asp
ENST00000327367.9:c.335C>A MANE Select	ENSP00000332973.4:p.Ala112Asp
NM_001145102.1:c.20C>A	NP_001138574.1:p.Ala7Asp
NM_001145102.2:c.20C>A	NP_001138574.1:p.Ala7Asp
NM_001145103.1:c.203C>A	NP_001138575.1:p.Ala68Asp
NM_001145103.2:c.203C>A	NP_001138575.1:p.Ala68Asp
NM_005902.3:c.335C>A	NP_005893.1:p.Ala112Asp
ENST00000327367.8:c.335C>A	ENSP00000332973.4:p.Ala112Asp
ENST00000439724.7:c.203C>A	ENSP00000401133.3:p.Ala68Asp
ENST00000540846.6:c.20C>A	ENSP00000437757.2:p.Ala7Asp
ENST00000558739.1:c.20C>A	ENSP00000453684.1:p.Ala7Asp
ENST00000558739.2:c.20C>A	ENSP00000453684.2:p.Ala7Asp
ENST00000558894.5:c.20C>A	ENSP00000458060.1:p.Ala7Asp
ENST00000559092.1:c.280C>A	ENSP00000453788.1:p.Pro94Thr
ENST00000559460.5:c.20C>A	ENSP00000453082.1:p.Ala7Asp
ENST00000559460.6:c.20C>A	ENSP00000453082.2:p.Ala7Asp
ENST00000559937.1:n.185C>A
ENST00000560175.5:c.20C>A	ENSP00000455095.1:p.Ala7Asp
ENST00000560424.2:c.335C>A	ENSP00000455540.2:p.Ala112Asp
ENST00000679624.1:c.20C>A	ENSP00000505445.1:p.Ala7Asp
ENST00000681239.1:c.20C>A	ENSP00000505641.1:p.Ala7Asp
XM_011521559.1:c.335C>A	XP_011519861.1:p.Ala112Asp
XM_011521559.3:c.335C>A	XP_011519861.1:p.Ala112Asp
XM_011521560.1:c.188C>A	XP_011519862.1:p.Ala63Asp