Canonical Allele Identifier: CA2184234718
Gene: SMAD6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66781137G= , CM000677.2:g.66781137G= GRCh38
NC_000015.9:g.67073475G= , CM000677.1:g.67073475G= GRCh37
NC_000015.8:g.64860529G= NCBI36
NG_012244.1:g.83802G=
NG_012244.2:g.83802G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.1093G= MANE Select ENSP00000288840.5:p.Gly365=
ENST00000288840.9:c.1093G= ENSP00000288840.5:p.Gly365=
ENST00000557916.5:c.1225G= ENSP00000452955.1:n.1225G=
ENST00000559931.5:c.397G= ENSP00000453446.1:n.397G=
NM_005585.4:c.1093G= NP_005576.3:p.Gly365=
NR_027654.1:n.2148G=
XM_011521561.1:c.310G= XP_011519863.1:p.Gly104=
XR_931825.1:n.2492G=
XM_011521561.2:c.310G= XP_011519863.1:p.Gly104=
NM_005585.5:c.1093G= MANE Select NP_005576.3:p.Gly365=
NR_027654.2:n.2248G=