Canonical Allele Identifier: CA392955859

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 2574085
• ClinVar RCV Id: RCV003485904
• gnomAD v4: 15-67181259-A-C
• MyVariant Identifiers: chr15:g.67473597A>C (hg19) ; chr15:g.67181259A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67181259A>C , CM000677.2:g.67181259A>C	GRCh38
NC_000015.9:g.67473597A>C , CM000677.1:g.67473597A>C	GRCh37
NC_000015.8:g.65260651A>C	NCBI36
NG_011990.1:g.120403A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000558428.6:c.92A>C	ENSP00000454165.2:p.Tyr31Ser
ENST00000558739.2:c.362A>C	ENSP00000453684.2:p.Tyr121Ser
ENST00000558827.2:c.92A>C	ENSP00000452767.2:p.Tyr31Ser
ENST00000559460.6:c.362A>C	ENSP00000453082.2:p.Tyr121Ser
ENST00000560424.2:c.677A>C	ENSP00000455540.2:p.Tyr226Ser
ENST00000327367.9:c.677A>C MANE Select	ENSP00000332973.4:p.Tyr226Ser
ENST00000679624.1:c.362A>C	ENSP00000505445.1:p.Tyr121Ser
ENST00000680689.1:n.380A>C
ENST00000681239.1:c.362A>C	ENSP00000505641.1:p.Tyr121Ser
ENST00000327367.8:c.677A>C	ENSP00000332973.4:p.Tyr226Ser
ENST00000439724.7:c.545A>C	ENSP00000401133.3:p.Tyr182Ser
ENST00000537194.6:c.92A>C	ENSP00000445348.2:p.Tyr31Ser
ENST00000540846.6:c.362A>C	ENSP00000437757.2:p.Tyr121Ser
ENST00000558428.5:c.92A>C	ENSP00000454165.1:p.Tyr31Ser
ENST00000558827.1:c.92A>C	ENSP00000452767.1:p.Tyr31Ser
ENST00000558894.5:c.362A>C	ENSP00000458060.1:p.Tyr121Ser
ENST00000560402.1:n.282+6675A>C
NM_001145102.1:c.362A>C	NP_001138574.1:p.Tyr121Ser
NM_001145103.1:c.545A>C	NP_001138575.1:p.Tyr182Ser
NM_001145104.1:c.92A>C	NP_001138576.1:p.Tyr31Ser
NM_005902.3:c.677A>C	NP_005893.1:p.Tyr226Ser
XM_011521559.1:c.545A>C	XP_011519861.1:p.Tyr182Ser
XM_011521560.1:c.530A>C	XP_011519862.1:p.Tyr177Ser
XM_011521559.3:c.545A>C	XP_011519861.1:p.Tyr182Ser
NM_005902.4:c.677A>C MANE Select	NP_005893.1:p.Tyr226Ser
NM_001145102.2:c.362A>C	NP_001138574.1:p.Tyr121Ser
NM_001145103.2:c.545A>C	NP_001138575.1:p.Tyr182Ser
NM_001145104.2:c.92A>C	NP_001138576.1:p.Tyr31Ser