Canonical Allele Identifier: CA392958180

Gene: SMAD3

Linked Data

• MyVariant Identifiers: chr15:g.67479762A>T (hg19) ; chr15:g.67187424A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67187424A>T , CM000677.2:g.67187424A>T	GRCh38
NC_000015.9:g.67479762A>T , CM000677.1:g.67479762A>T	GRCh37
NC_000015.8:g.65266816A>T	NCBI36
NG_011990.1:g.126568A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.484A>T	ENSP00000454165.2:p.Asn162Tyr
ENST00000558739.2:c.754A>T	ENSP00000453684.2:p.Asn252Tyr
ENST00000558827.2:c.484A>T	ENSP00000452767.2:p.Asn162Tyr
ENST00000559460.6:c.754A>T	ENSP00000453082.2:p.Asn252Tyr
ENST00000560424.2:c.1180A>T	ENSP00000455540.2:p.Asn394Tyr
ENST00000327367.9:c.1069A>T MANE Select	ENSP00000332973.4:p.Asn357Tyr
ENST00000679624.1:c.754A>T	ENSP00000505445.1:p.Asn252Tyr
ENST00000680689.1:n.772A>T
ENST00000681239.1:c.754A>T	ENSP00000505641.1:p.Asn252Tyr
ENST00000327367.8:c.1069A>T	ENSP00000332973.4:p.Asn357Tyr
ENST00000439724.7:c.937A>T	ENSP00000401133.3:p.Asn313Tyr
ENST00000537194.6:c.484A>T	ENSP00000445348.2:p.Asn162Tyr
ENST00000540846.6:c.754A>T	ENSP00000437757.2:p.Asn252Tyr
ENST00000558763.1:n.763A>T
ENST00000558894.5:c.616A>T	ENSP00000458060.1:p.Asn206Tyr
ENST00000560402.1:n.283-5449A>T
ENST00000560424.1:c.261A>T
NM_001145102.1:c.754A>T	NP_001138574.1:p.Asn252Tyr
NM_001145103.1:c.937A>T	NP_001138575.1:p.Asn313Tyr
NM_001145104.1:c.484A>T	NP_001138576.1:p.Asn162Tyr
NM_005902.3:c.1069A>T	NP_005893.1:p.Asn357Tyr
XM_011521559.1:c.937A>T	XP_011519861.1:p.Asn313Tyr
XM_011521560.1:c.922A>T	XP_011519862.1:p.Asn308Tyr
XM_011521559.3:c.937A>T	XP_011519861.1:p.Asn313Tyr
NM_005902.4:c.1069A>T MANE Select	NP_005893.1:p.Asn357Tyr
NM_001145102.2:c.754A>T	NP_001138574.1:p.Asn252Tyr
NM_001145103.2:c.937A>T	NP_001138575.1:p.Asn313Tyr
NM_001145104.2:c.484A>T	NP_001138576.1:p.Asn162Tyr