Canonical Allele Identifier: CA392953922

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 993641
• ClinVar RCV Id: RCV001285334
• dbSNP Id: rs1962536528
• MyVariant Identifiers: chr15:g.67457310C>T (hg19) ; chr15:g.67164972C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67164972C>T , CM000677.2:g.67164972C>T	GRCh38
NC_000015.9:g.67457310C>T , CM000677.1:g.67457310C>T	GRCh37
NC_000015.8:g.65244364C>T	NCBI36
NG_011990.1:g.104116C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000558739.2:c.-32C>T	ENSP00000453684.2:n.-32C>T
ENST00000559460.6:c.-32C>T	ENSP00000453082.2:n.-32C>T
ENST00000560424.2:c.284C>T	ENSP00000455540.2:p.Pro95Leu
ENST00000327367.9:c.284C>T MANE Select	ENSP00000332973.4:p.Pro95Leu
ENST00000679624.1:c.-32C>T	ENSP00000505445.1:n.-32C>T
ENST00000681239.1:c.-32C>T	ENSP00000505641.1:n.-32C>T
ENST00000327367.8:c.284C>T	ENSP00000332973.4:p.Pro95Leu
ENST00000439724.7:c.152C>T	ENSP00000401133.3:p.Pro51Leu
ENST00000540846.6:c.-32C>T	ENSP00000437757.2:n.-32C>T
ENST00000558739.1:c.-32C>T	ENSP00000453684.1:n.-32C>T
ENST00000558894.5:c.-32C>T	ENSP00000458060.1:n.-32C>T
ENST00000559092.1:c.229C>T	ENSP00000453788.1:p.Gln77Ter
ENST00000559460.5:c.-32C>T	ENSP00000453082.1:n.-32C>T
ENST00000559937.1:n.134C>T
ENST00000560175.5:c.-32C>T	ENSP00000455095.1:n.-32C>T
NM_001145102.1:c.-32C>T	NP_001138574.1:n.-32C>T
NM_001145103.1:c.152C>T	NP_001138575.1:p.Pro51Leu
NM_005902.3:c.284C>T	NP_005893.1:p.Pro95Leu
XM_011521559.1:c.284C>T	XP_011519861.1:p.Pro95Leu
XM_011521560.1:c.137C>T	XP_011519862.1:p.Pro46Leu
XM_011521559.3:c.284C>T	XP_011519861.1:p.Pro95Leu
NM_005902.4:c.284C>T MANE Select	NP_005893.1:p.Pro95Leu
NM_001145102.2:c.-32C>T	NP_001138574.1:n.-32C>T
NM_001145103.2:c.152C>T	NP_001138575.1:p.Pro51Leu