Canonical Allele Identifier: CA392953979

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67164992G>T , CM000677.2:g.67164992G>T	GRCh38
NC_000015.9:g.67457330G>T , CM000677.1:g.67457330G>T	GRCh37
NC_000015.8:g.65244384G>T	NCBI36
NG_011990.1:g.104136G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.-12G>T	ENSP00000453684.2:n.-12G>T
ENST00000559460.6:c.-12G>T	ENSP00000453082.2:n.-12G>T
ENST00000560424.2:c.304G>T	ENSP00000455540.2:p.Glu102Ter
ENST00000327367.9:c.304G>T MANE Select	ENSP00000332973.4:p.Glu102Ter
ENST00000679624.1:c.-12G>T	ENSP00000505445.1:n.-12G>T
ENST00000681239.1:c.-12G>T	ENSP00000505641.1:n.-12G>T
ENST00000327367.8:c.304G>T	ENSP00000332973.4:p.Glu102Ter
ENST00000439724.7:c.172G>T	ENSP00000401133.3:p.Glu58Ter
ENST00000540846.6:c.-12G>T	ENSP00000437757.2:n.-12G>T
ENST00000558739.1:c.-12G>T	ENSP00000453684.1:n.-12G>T
ENST00000558894.5:c.-12G>T	ENSP00000458060.1:n.-12G>T
ENST00000559092.1:c.249G>T	ENSP00000453788.1:p.Thr83=
ENST00000559460.5:c.-12G>T	ENSP00000453082.1:n.-12G>T
ENST00000559937.1:n.154G>T
ENST00000560175.5:c.-12G>T	ENSP00000455095.1:n.-12G>T
NM_001145102.1:c.-12G>T	NP_001138574.1:n.-12G>T
NM_001145103.1:c.172G>T	NP_001138575.1:p.Glu58Ter
NM_005902.3:c.304G>T	NP_005893.1:p.Glu102Ter
XM_011521559.1:c.304G>T	XP_011519861.1:p.Glu102Ter
XM_011521560.1:c.157G>T	XP_011519862.1:p.Glu53Ter
XM_011521559.3:c.304G>T	XP_011519861.1:p.Glu102Ter
NM_005902.4:c.304G>T MANE Select	NP_005893.1:p.Glu102Ter
NM_001145102.2:c.-12G>T	NP_001138574.1:n.-12G>T
NM_001145103.2:c.172G>T	NP_001138575.1:p.Glu58Ter