Canonical Allele Identifier: CA2184198263
Gene: SMAD6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703292C= , CM000677.2:g.66703292C= GRCh38
NC_000015.9:g.66995630C= , CM000677.1:g.66995630C= GRCh37
NC_000015.8:g.64782684C= NCBI36
NG_012244.1:g.5957C=
NG_012244.2:g.5957C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.34C= MANE Select ENSP00000288840.5:p.Arg12=
ENST00000288840.9:c.34C= ENSP00000288840.5:p.Arg12=
ENST00000557916.5:c.34C= ENSP00000452955.1:p.Arg12=
ENST00000612349.1:n.216C=
NM_005585.4:c.34C= NP_005576.3:p.Arg12=
NR_027654.1:n.957C=
XR_931825.1:n.1193C=
XR_931826.1:n.1193C=
XR_931827.1:n.1193C=
XR_931827.2:n.1183C=
NM_005585.5:c.34C= MANE Select NP_005576.3:p.Arg12=
NR_027654.2:n.1057C=