Canonical Allele Identifier: CA392954241

Gene: SMAD3

Linked Data

• MyVariant Identifiers: chr15:g.67457599C>G (hg19) ; chr15:g.67165261C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165261C>G , CM000677.2:g.67165261C>G	GRCh38
NC_000015.9:g.67457599C>G , CM000677.1:g.67457599C>G	GRCh37
NC_000015.8:g.65244653C>G	NCBI36
NG_011990.1:g.104405C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.94C>G	ENSP00000453684.2:p.Pro32Ala
ENST00000559460.6:c.94C>G	ENSP00000453082.2:p.Pro32Ala
ENST00000560424.2:c.409C>G	ENSP00000455540.2:p.Pro137Ala
ENST00000327367.9:c.409C>G MANE Select	ENSP00000332973.4:p.Pro137Ala
ENST00000679624.1:c.94C>G	ENSP00000505445.1:p.Pro32Ala
ENST00000681239.1:c.94C>G	ENSP00000505641.1:p.Pro32Ala
ENST00000327367.8:c.409C>G	ENSP00000332973.4:p.Pro137Ala
ENST00000439724.7:c.277C>G	ENSP00000401133.3:p.Pro93Ala
ENST00000540846.6:c.94C>G	ENSP00000437757.2:p.Pro32Ala
ENST00000558739.1:c.94C>G	ENSP00000453684.1:p.Pro32Ala
ENST00000558894.5:c.94C>G	ENSP00000458060.1:p.Pro32Ala
ENST00000559460.5:c.94C>G	ENSP00000453082.1:p.Pro32Ala
ENST00000559937.1:n.259C>G
ENST00000560175.5:c.94C>G	ENSP00000455095.1:p.Pro32Ala
NM_001145102.1:c.94C>G	NP_001138574.1:p.Pro32Ala
NM_001145103.1:c.277C>G	NP_001138575.1:p.Pro93Ala
NM_005902.3:c.409C>G	NP_005893.1:p.Pro137Ala
XM_011521559.1:c.400+173C>G	XP_011519861.1:n.400+173C>G
XM_011521560.1:c.262C>G	XP_011519862.1:p.Pro88Ala
XM_011521559.3:c.400+173C>G	XP_011519861.1:n.400+173C>G
NM_005902.4:c.409C>G MANE Select	NP_005893.1:p.Pro137Ala
NM_001145102.2:c.94C>G	NP_001138574.1:p.Pro32Ala
NM_001145103.2:c.277C>G	NP_001138575.1:p.Pro93Ala