Canonical Allele Identifier: CA2184234674
Gene: SMAD6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66781067G= , CM000677.2:g.66781067G= GRCh38
NC_000015.9:g.67073405G= , CM000677.1:g.67073405G= GRCh37
NC_000015.8:g.64860459G= NCBI36
NG_012244.1:g.83732G=
NG_012244.2:g.83732G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.1023G= MANE Select ENSP00000288840.5:p.Thr341=
ENST00000288840.9:c.1023G= ENSP00000288840.5:p.Thr341=
ENST00000557916.5:c.1155G= ENSP00000452955.1:n.1155G=
ENST00000559931.5:c.327G= ENSP00000453446.1:n.327G=
NM_005585.4:c.1023G= NP_005576.3:p.Thr341=
NR_027654.1:n.2078G=
XM_011521561.1:c.240G= XP_011519863.1:p.Thr80=
XR_931825.1:n.2422G=
XM_011521561.2:c.240G= XP_011519863.1:p.Thr80=
NM_005585.5:c.1023G= MANE Select NP_005576.3:p.Thr341=
NR_027654.2:n.2178G=