Canonical Allele Identifier: CA272401175

Gene: SMAD3

Linked Data

• dbSNP Id: rs1011074834
• gnomAD v4: 15-67192322-A-G
• MyVariant Identifiers: chr15:g.67484660A>G (hg19) ; chr15:g.67192322A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67192322A>G , CM000677.2:g.67192322A>G	GRCh38
NC_000015.9:g.67484660A>G , CM000677.1:g.67484660A>G	GRCh37
NC_000015.8:g.65271714A>G	NCBI36
NG_011990.1:g.131466A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000558739.2:c.*1786A>G	ENSP00000453684.2:n.*1786A>G
ENST00000559460.6:c.*1786A>G	ENSP00000453082.2:n.*1786A>G
ENST00000327367.9:c.*1786A>G MANE Select	ENSP00000332973.4:n.*1786A>G
ENST00000679624.1:c.*1786A>G	ENSP00000505445.1:n.*1786A>G
ENST00000681239.1:c.*1786A>G	ENSP00000505641.1:n.*1786A>G
ENST00000327367.8:c.*1786A>G	ENSP00000332973.4:n.*1786A>G
ENST00000560402.1:n.283-551A>G
NM_001145102.1:c.*1786A>G	NP_001138574.1:n.*1786A>G
NM_001145103.1:c.*1786A>G	NP_001138575.1:n.*1786A>G
NM_001145104.1:c.*1786A>G	NP_001138576.1:n.*1786A>G
NM_005902.3:c.*1786A>G	NP_005893.1:n.*1786A>G
XM_011521559.1:c.*1786A>G	XP_011519861.1:n.*1786A>G
XM_011521560.1:c.*1786A>G	XP_011519862.1:n.*1786A>G
XM_011521559.3:c.*1786A>G	XP_011519861.1:n.*1786A>G
NM_005902.4:c.*1786A>G MANE Select	NP_005893.1:n.*1786A>G
NM_001145102.2:c.*1786A>G	NP_001138574.1:n.*1786A>G
NM_001145103.2:c.*1786A>G	NP_001138575.1:n.*1786A>G
NM_001145104.2:c.*1786A>G	NP_001138576.1:n.*1786A>G