Canonical Allele Identifier: CA2526840193
Gene: SMAD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67065898C>T , CM000677.2:g.67065898C>T GRCh38
NC_000015.9:g.67358236C>T , CM000677.1:g.67358236C>T GRCh37
NC_000015.8:g.65145290C>T NCBI36
NG_011990.1:g.5042C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+1954C>T ENSP00000453082.2:n.-110+1954C>T
ENST00000560424.2:c.-257C>T ENSP00000455540.2:n.-257C>T
ENST00000327367.9:c.-257C>T MANE Select ENSP00000332973.4:n.-257C>T
ENST00000327367.8:c.-257C>T ENSP00000332973.4:n.-257C>T
ENST00000559460.5:c.-110+1954C>T ENSP00000453082.1:n.-110+1954C>T
NM_005902.3:c.-257C>T NP_005893.1:n.-257C>T
XM_011521559.1:c.-257C>T XP_011519861.1:n.-257C>T
NM_005902.4:c.-257C>T MANE Select NP_005893.1:n.-257C>T