Canonical Allele Identifier: CA2184410417
Gene: SMAD3 HGNC NCBI

Linked Data

dbSNP Id: rs1962543195

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67165117dup , CM000677.2:g.67165117dup GRCh38
NC_000015.9:g.67457455dup , CM000677.1:g.67457455dup GRCh37
NC_000015.8:g.65244509dup NCBI36
NG_011990.1:g.104261dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000558739.2:c.85+29dup ENSP00000453684.2:n.85+29dup
ENST00000559460.6:c.85+29dup ENSP00000453082.2:n.85+29dup
ENST00000560424.2:c.400+29dup ENSP00000455540.2:n.400+29dup
ENST00000327367.9:c.400+29dup MANE Select ENSP00000332973.4:n.400+29dup
ENST00000679624.1:c.85+29dup ENSP00000505445.1:n.85+29dup
ENST00000681239.1:c.85+29dup ENSP00000505641.1:n.85+29dup
ENST00000327367.8:c.400+29dup ENSP00000332973.4:n.400+29dup
ENST00000439724.7:c.268+29dup ENSP00000401133.3:n.268+29dup
ENST00000540846.6:c.85+29dup ENSP00000437757.2:n.85+29dup
ENST00000558739.1:c.85+29dup ENSP00000453684.1:n.85+29dup
ENST00000558894.5:c.85+29dup ENSP00000458060.1:n.85+29dup
ENST00000559460.5:c.85+29dup ENSP00000453082.1:n.85+29dup
ENST00000559937.1:n.250+29dup
ENST00000560175.5:c.85+29dup ENSP00000455095.1:n.85+29dup
NM_001145102.1:c.85+29dup NP_001138574.1:n.85+29dup
NM_001145103.1:c.268+29dup NP_001138575.1:n.268+29dup
NM_005902.3:c.400+29dup NP_005893.1:n.400+29dup
XM_011521559.1:c.400+29dup XP_011519861.1:n.400+29dup
XM_011521560.1:c.253+29dup XP_011519862.1:n.253+29dup
XM_011521559.3:c.400+29dup XP_011519861.1:n.400+29dup
NM_005902.4:c.400+29dup MANE Select NP_005893.1:n.400+29dup
NM_001145102.2:c.85+29dup NP_001138574.1:n.85+29dup
NM_001145103.2:c.268+29dup NP_001138575.1:n.268+29dup