Canonical Allele Identifier: CA392953867

Gene: SMAD3

Linked Data

• dbSNP Id: rs1156623019
• gnomAD v2: 15-67457290-C-G
• gnomAD v4: 15-67164952-C-G
• MyVariant Identifiers: chr15:g.67457290C>G (hg19) ; chr15:g.67164952C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67164952C>G , CM000677.2:g.67164952C>G	GRCh38
NC_000015.9:g.67457290C>G , CM000677.1:g.67457290C>G	GRCh37
NC_000015.8:g.65244344C>G	NCBI36
NG_011990.1:g.104096C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.-52C>G	ENSP00000453684.2:n.-52C>G
ENST00000559460.6:c.-52C>G	ENSP00000453082.2:n.-52C>G
ENST00000560424.2:c.264C>G	ENSP00000455540.2:p.Tyr88Ter
ENST00000327367.9:c.264C>G MANE Select	ENSP00000332973.4:p.Tyr88Ter
ENST00000679624.1:c.-52C>G	ENSP00000505445.1:n.-52C>G
ENST00000681239.1:c.-52C>G	ENSP00000505641.1:n.-52C>G
ENST00000327367.8:c.264C>G	ENSP00000332973.4:p.Tyr88Ter
ENST00000439724.7:c.132C>G	ENSP00000401133.3:p.Tyr44Ter
ENST00000540846.6:c.-52C>G	ENSP00000437757.2:n.-52C>G
ENST00000558739.1:c.-52C>G	ENSP00000453684.1:n.-52C>G
ENST00000558894.5:c.-52C>G	ENSP00000458060.1:n.-52C>G
ENST00000559092.1:c.209C>G	ENSP00000453788.1:p.Thr70Ser
ENST00000559460.5:c.-52C>G	ENSP00000453082.1:n.-52C>G
ENST00000559937.1:n.114C>G
ENST00000560175.5:c.-52C>G	ENSP00000455095.1:n.-52C>G
NM_001145102.1:c.-52C>G	NP_001138574.1:n.-52C>G
NM_001145103.1:c.132C>G	NP_001138575.1:p.Tyr44Ter
NM_005902.3:c.264C>G	NP_005893.1:p.Tyr88Ter
XM_011521559.1:c.264C>G	XP_011519861.1:p.Tyr88Ter
XM_011521560.1:c.117C>G	XP_011519862.1:p.Tyr39Ter
XM_011521559.3:c.264C>G	XP_011519861.1:p.Tyr88Ter
NM_005902.4:c.264C>G MANE Select	NP_005893.1:p.Tyr88Ter
NM_001145102.2:c.-52C>G	NP_001138574.1:n.-52C>G
NM_001145103.2:c.132C>G	NP_001138575.1:p.Tyr44Ter