Canonical Allele Identifier: CA490916449

Gene: SMAD3

Linked Data

• dbSNP Id: rs2140319857
• MyVariant Identifiers: chr15:g.67477084C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67184746C>T , CM000677.2:g.67184746C>T	GRCh38
NC_000015.9:g.67477084C>T , CM000677.1:g.67477084C>T	GRCh37
NC_000015.8:g.65264138C>T	NCBI36
NG_011990.1:g.123890C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.306C>T	ENSP00000454165.2:p.Tyr102=
ENST00000558739.2:c.576C>T	ENSP00000453684.2:p.Tyr192=
ENST00000558827.2:c.306C>T	ENSP00000452767.2:p.Tyr102=
ENST00000559460.6:c.576C>T	ENSP00000453082.2:p.Tyr192=
ENST00000560424.2:c.891C>T	ENSP00000455540.2:p.Tyr297=
ENST00000327367.9:c.891C>T MANE Select	ENSP00000332973.4:p.Tyr297=
ENST00000679624.1:c.576C>T	ENSP00000505445.1:p.Tyr192=
ENST00000680689.1:n.594C>T
ENST00000681239.1:c.576C>T	ENSP00000505641.1:p.Tyr192=
ENST00000327367.8:c.891C>T	ENSP00000332973.4:p.Tyr297=
ENST00000439724.7:c.759C>T	ENSP00000401133.3:p.Tyr253=
ENST00000537194.6:c.306C>T	ENSP00000445348.2:p.Tyr102=
ENST00000540846.6:c.576C>T	ENSP00000437757.2:p.Tyr192=
ENST00000558827.1:c.306C>T	ENSP00000452767.1:p.Tyr102=
ENST00000558894.5:c.557-2619C>T	ENSP00000458060.1:n.557-2619C>T
ENST00000560402.1:n.283-8127C>T
NM_001145102.1:c.576C>T	NP_001138574.1:p.Tyr192=
NM_001145103.1:c.759C>T	NP_001138575.1:p.Tyr253=
NM_001145104.1:c.306C>T	NP_001138576.1:p.Tyr102=
NM_005902.3:c.891C>T	NP_005893.1:p.Tyr297=
XM_011521559.1:c.759C>T	XP_011519861.1:p.Tyr253=
XM_011521560.1:c.744C>T	XP_011519862.1:p.Tyr248=
XM_011521559.3:c.759C>T	XP_011519861.1:p.Tyr253=
NM_005902.4:c.891C>T MANE Select	NP_005893.1:p.Tyr297=
NM_001145102.2:c.576C>T	NP_001138574.1:p.Tyr192=
NM_001145103.2:c.759C>T	NP_001138575.1:p.Tyr253=
NM_001145104.2:c.306C>T	NP_001138576.1:p.Tyr102=