Canonical Allele Identifier: CA2184234715
Gene: SMAD6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66781132G= , CM000677.2:g.66781132G= GRCh38
NC_000015.9:g.67073470G= , CM000677.1:g.67073470G= GRCh37
NC_000015.8:g.64860524G= NCBI36
NG_012244.1:g.83797G=
NG_012244.2:g.83797G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.1088G= MANE Select ENSP00000288840.5:p.Gly363=
ENST00000288840.9:c.1088G= ENSP00000288840.5:p.Gly363=
ENST00000557916.5:c.1220G= ENSP00000452955.1:n.1220G=
ENST00000559931.5:c.392G= ENSP00000453446.1:n.392G=
NM_005585.4:c.1088G= NP_005576.3:p.Gly363=
NR_027654.1:n.2143G=
XM_011521561.1:c.305G= XP_011519863.1:p.Gly102=
XR_931825.1:n.2487G=
XM_011521561.2:c.305G= XP_011519863.1:p.Gly102=
NM_005585.5:c.1088G= MANE Select NP_005576.3:p.Gly363=
NR_027654.2:n.2243G=