Canonical Allele Identifier: CA2629114689
Gene: SMAD3 HGNC NCBI

Linked Data

gnomAD v4: 15-67065928-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67065928C>A , CM000677.2:g.67065928C>A GRCh38
NC_000015.9:g.67358266C>A , CM000677.1:g.67358266C>A GRCh37
NC_000015.8:g.65145320C>A NCBI36
NG_011990.1:g.5072C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+1984C>A ENSP00000453082.2:n.-110+1984C>A
ENST00000560424.2:c.-227C>A ENSP00000455540.2:n.-227C>A
ENST00000327367.9:c.-227C>A MANE Select ENSP00000332973.4:n.-227C>A
ENST00000327367.8:c.-227C>A ENSP00000332973.4:n.-227C>A
ENST00000559460.5:c.-110+1984C>A ENSP00000453082.1:n.-110+1984C>A
NM_005902.3:c.-227C>A NP_005893.1:n.-227C>A
XM_011521559.1:c.-227C>A XP_011519861.1:n.-227C>A
NM_005902.4:c.-227C>A MANE Select NP_005893.1:n.-227C>A
Search 100 bp 5'
Search 100 bp 3'