Canonical Allele Identifier: CA2184234720
Gene: SMAD6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66781140T= , CM000677.2:g.66781140T= GRCh38
NC_000015.9:g.67073478T= , CM000677.1:g.67073478T= GRCh37
NC_000015.8:g.64860532T= NCBI36
NG_012244.1:g.83805T=
NG_012244.2:g.83805T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.1096T= MANE Select ENSP00000288840.5:p.Phe366=
ENST00000288840.9:c.1096T= ENSP00000288840.5:p.Phe366=
ENST00000557916.5:c.1228T= ENSP00000452955.1:n.1228T=
ENST00000559931.5:c.400T= ENSP00000453446.1:n.400T=
NM_005585.4:c.1096T= NP_005576.3:p.Phe366=
NR_027654.1:n.2151T=
XM_011521561.1:c.313T= XP_011519863.1:p.Phe105=
XR_931825.1:n.2495T=
XM_011521561.2:c.313T= XP_011519863.1:p.Phe105=
NM_005585.5:c.1096T= MANE Select NP_005576.3:p.Phe366=
NR_027654.2:n.2251T=