Canonical Allele Identifier: CA392957373

Gene: SMAD3

Linked Data

• MyVariant Identifiers: chr15:g.67477197C>A (hg19) ; chr15:g.67184859C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67184859C>A , CM000677.2:g.67184859C>A	GRCh38
NC_000015.9:g.67477197C>A , CM000677.1:g.67477197C>A	GRCh37
NC_000015.8:g.65264251C>A	NCBI36
NG_011990.1:g.124003C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.419C>A	ENSP00000454165.2:p.Pro140Gln
ENST00000558739.2:c.689C>A	ENSP00000453684.2:p.Pro230Gln
ENST00000558827.2:c.419C>A	ENSP00000452767.2:p.Pro140Gln
ENST00000559460.6:c.689C>A	ENSP00000453082.2:p.Pro230Gln
ENST00000560424.2:c.1004C>A	ENSP00000455540.2:p.Pro335Gln
ENST00000327367.9:c.1004C>A MANE Select	ENSP00000332973.4:p.Pro335Gln
ENST00000679624.1:c.689C>A	ENSP00000505445.1:p.Pro230Gln
ENST00000680689.1:n.707C>A
ENST00000681239.1:c.689C>A	ENSP00000505641.1:p.Pro230Gln
ENST00000327367.8:c.1004C>A	ENSP00000332973.4:p.Pro335Gln
ENST00000439724.7:c.872C>A	ENSP00000401133.3:p.Pro291Gln
ENST00000537194.6:c.419C>A	ENSP00000445348.2:p.Pro140Gln
ENST00000540846.6:c.689C>A	ENSP00000437757.2:p.Pro230Gln
ENST00000558894.5:c.557-2506C>A	ENSP00000458060.1:n.557-2506C>A
ENST00000560402.1:n.283-8014C>A
ENST00000560424.1:c.85C>A
NM_001145102.1:c.689C>A	NP_001138574.1:p.Pro230Gln
NM_001145103.1:c.872C>A	NP_001138575.1:p.Pro291Gln
NM_001145104.1:c.419C>A	NP_001138576.1:p.Pro140Gln
NM_005902.3:c.1004C>A	NP_005893.1:p.Pro335Gln
XM_011521559.1:c.872C>A	XP_011519861.1:p.Pro291Gln
XM_011521560.1:c.857C>A	XP_011519862.1:p.Pro286Gln
XM_011521559.3:c.872C>A	XP_011519861.1:p.Pro291Gln
NM_005902.4:c.1004C>A MANE Select	NP_005893.1:p.Pro335Gln
NM_001145102.2:c.689C>A	NP_001138574.1:p.Pro230Gln
NM_001145103.2:c.872C>A	NP_001138575.1:p.Pro291Gln
NM_001145104.2:c.419C>A	NP_001138576.1:p.Pro140Gln