Canonical Allele Identifier: CA062675

Gene: SMAD3

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67181379C>T , CM000677.2:g.67181379C>T	GRCh38
NC_000015.9:g.67473717C>T , CM000677.1:g.67473717C>T	GRCh37
NC_000015.8:g.65260771C>T	NCBI36
NG_011990.1:g.120523C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.212C>T	ENSP00000454165.2:p.Ser71Leu
ENST00000558739.2:c.482C>T	ENSP00000453684.2:p.Ser161Leu
ENST00000558827.2:c.212C>T	ENSP00000452767.2:p.Ser71Leu
ENST00000559460.6:c.482C>T	ENSP00000453082.2:p.Ser161Leu
ENST00000560424.2:c.797C>T	ENSP00000455540.2:p.Ser266Leu
ENST00000327367.9:c.797C>T MANE Select	ENSP00000332973.4:p.Ser266Leu
ENST00000679624.1:c.482C>T	ENSP00000505445.1:p.Ser161Leu
ENST00000680689.1:n.500C>T
ENST00000681239.1:c.482C>T	ENSP00000505641.1:p.Ser161Leu
ENST00000327367.8:c.797C>T	ENSP00000332973.4:p.Ser266Leu
ENST00000439724.7:c.665C>T	ENSP00000401133.3:p.Ser222Leu
ENST00000537194.6:c.212C>T	ENSP00000445348.2:p.Ser71Leu
ENST00000540846.6:c.482C>T	ENSP00000437757.2:p.Ser161Leu
ENST00000558428.5:c.212C>T	ENSP00000454165.1:p.Ser71Leu
ENST00000558827.1:c.212C>T	ENSP00000452767.1:p.Ser71Leu
ENST00000558894.5:c.482C>T	ENSP00000458060.1:p.Ser161Leu
ENST00000560402.1:n.282+6795C>T
NM_001145102.1:c.482C>T	NP_001138574.1:p.Ser161Leu
NM_001145103.1:c.665C>T	NP_001138575.1:p.Ser222Leu
NM_001145104.1:c.212C>T	NP_001138576.1:p.Ser71Leu
NM_005902.3:c.797C>T	NP_005893.1:p.Ser266Leu
XM_011521559.1:c.665C>T	XP_011519861.1:p.Ser222Leu
XM_011521560.1:c.650C>T	XP_011519862.1:p.Ser217Leu
XM_011521559.3:c.665C>T	XP_011519861.1:p.Ser222Leu
NM_005902.4:c.797C>T MANE Select	NP_005893.1:p.Ser266Leu
NM_001145102.2:c.482C>T	NP_001138574.1:p.Ser161Leu
NM_001145103.2:c.665C>T	NP_001138575.1:p.Ser222Leu
NM_001145104.2:c.212C>T	NP_001138576.1:p.Ser71Leu