Canonical Allele Identifier: CA2184198244
Gene: SMAD6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703264C= , CM000677.2:g.66703264C= GRCh38
NC_000015.9:g.66995602C= , CM000677.1:g.66995602C= GRCh37
NC_000015.8:g.64782656C= NCBI36
NG_012244.1:g.5929C=
NG_012244.2:g.5929C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.6C= MANE Select ENSP00000288840.5:p.Phe2=
ENST00000288840.9:c.6C= ENSP00000288840.5:p.Phe2=
ENST00000557916.5:c.6C= ENSP00000452955.1:p.Phe2=
ENST00000612349.1:n.188C=
NM_005585.4:c.6C= NP_005576.3:p.Phe2=
NR_027654.1:n.929C=
XR_931825.1:n.1165C=
XR_931826.1:n.1165C=
XR_931827.1:n.1165C=
XR_931827.2:n.1155C=
NM_005585.5:c.6C= MANE Select NP_005576.3:p.Phe2=
NR_027654.2:n.1029C=