Canonical Allele Identifier: CA2184234624
Gene: SMAD6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66781002A= , CM000677.2:g.66781002A= GRCh38
NC_000015.9:g.67073340A= , CM000677.1:g.67073340A= GRCh37
NC_000015.8:g.64860394A= NCBI36
NG_012244.1:g.83667A=
NG_012244.2:g.83667A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.958A= MANE Select ENSP00000288840.5:p.Ser320=
ENST00000288840.9:c.958A= ENSP00000288840.5:p.Ser320=
ENST00000557916.5:c.1090A= ENSP00000452955.1:n.1090A=
ENST00000559931.5:c.262A= ENSP00000453446.1:n.262A=
NM_005585.4:c.958A= NP_005576.3:p.Ser320=
NR_027654.1:n.2013A=
XM_011521561.1:c.175A= XP_011519863.1:p.Ser59=
XR_931825.1:n.2357A=
XM_011521561.2:c.175A= XP_011519863.1:p.Ser59=
NM_005585.5:c.958A= MANE Select NP_005576.3:p.Ser320=
NR_027654.2:n.2113A=