Canonical Allele Identifier: CA2184369281
Gene: SMAD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066316C= , CM000677.2:g.67066316C= GRCh38
NC_000015.9:g.67358654C= , CM000677.1:g.67358654C= GRCh37
NC_000015.8:g.65145708C= NCBI36
NG_011990.1:g.5460C=

Transcript Alleles

HGVS Amino-acid change
ENST00000559460.6:c.-110+2372C= ENSP00000453082.2:n.-110+2372C=
ENST00000560424.2:c.162C= ENSP00000455540.2:p.Ala54=
ENST00000327367.9:c.162C= MANE Select ENSP00000332973.4:p.Ala54=
ENST00000327367.8:c.162C= ENSP00000332973.4:p.Ala54=
ENST00000559460.5:c.-110+2372C= ENSP00000453082.1:n.-110+2372C=
NM_005902.3:c.162C= NP_005893.1:p.Ala54=
XM_011521559.1:c.162C= XP_011519861.1:p.Ala54=
XM_011521559.3:c.162C= XP_011519861.1:p.Ala54=
NM_005902.4:c.162C= MANE Select NP_005893.1:p.Ala54=