Canonical Allele Identifier: CA393203007
Gene: SMAD3 HGNC NCBI

Linked Data

dbSNP Id: rs1595882150

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066306T>A , CM000677.2:g.67066306T>A GRCh38
NC_000015.9:g.67358644T>A , CM000677.1:g.67358644T>A GRCh37
NC_000015.8:g.65145698T>A NCBI36
NG_011990.1:g.5450T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2362T>A ENSP00000453082.2:n.-110+2362T>A
ENST00000560424.2:c.152T>A ENSP00000455540.2:p.Leu51Gln
ENST00000327367.9:c.152T>A MANE Select ENSP00000332973.4:p.Leu51Gln
ENST00000327367.8:c.152T>A ENSP00000332973.4:p.Leu51Gln
ENST00000559460.5:c.-110+2362T>A ENSP00000453082.1:n.-110+2362T>A
NM_005902.3:c.152T>A NP_005893.1:p.Leu51Gln
XM_011521559.1:c.152T>A XP_011519861.1:p.Leu51Gln
XM_011521559.3:c.152T>A XP_011519861.1:p.Leu51Gln
NM_005902.4:c.152T>A MANE Select NP_005893.1:p.Leu51Gln