Canonical Allele Identifier: CA2804563124
Gene: SMAD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67065912T>G , CM000677.2:g.67065912T>G GRCh38
NC_000015.9:g.67358250T>G , CM000677.1:g.67358250T>G GRCh37
NC_000015.8:g.65145304T>G NCBI36
NG_011990.1:g.5056T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+1968T>G ENSP00000453082.2:n.-110+1968T>G
ENST00000560424.2:c.-243T>G ENSP00000455540.2:n.-243T>G
ENST00000327367.9:c.-243T>G MANE Select ENSP00000332973.4:n.-243T>G
ENST00000327367.8:c.-243T>G ENSP00000332973.4:n.-243T>G
ENST00000559460.5:c.-110+1968T>G ENSP00000453082.1:n.-110+1968T>G
NM_005902.3:c.-243T>G NP_005893.1:n.-243T>G
XM_011521559.1:c.-243T>G XP_011519861.1:n.-243T>G
NM_005902.4:c.-243T>G MANE Select NP_005893.1:n.-243T>G