Canonical Allele Identifier: CA393202744
Gene: SMAD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066193G>T , CM000677.2:g.67066193G>T GRCh38
NC_000015.9:g.67358531G>T , CM000677.1:g.67358531G>T GRCh37
NC_000015.8:g.65145585G>T NCBI36
NG_011990.1:g.5337G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2249G>T ENSP00000453082.2:n.-110+2249G>T
ENST00000560424.2:c.39G>T ENSP00000455540.2:p.Lys13Asn
ENST00000327367.9:c.39G>T MANE Select ENSP00000332973.4:p.Lys13Asn
ENST00000327367.8:c.39G>T ENSP00000332973.4:p.Lys13Asn
ENST00000559460.5:c.-110+2249G>T ENSP00000453082.1:n.-110+2249G>T
NM_005902.3:c.39G>T NP_005893.1:p.Lys13Asn
XM_011521559.1:c.39G>T XP_011519861.1:p.Lys13Asn
XM_011521559.3:c.39G>T XP_011519861.1:p.Lys13Asn
NM_005902.4:c.39G>T MANE Select NP_005893.1:p.Lys13Asn