Canonical Allele Identifier: CA2184234705
Gene: SMAD6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66781117A= , CM000677.2:g.66781117A= GRCh38
NC_000015.9:g.67073455A= , CM000677.1:g.67073455A= GRCh37
NC_000015.8:g.64860509A= NCBI36
NG_012244.1:g.83782A=
NG_012244.2:g.83782A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.1073A= MANE Select ENSP00000288840.5:p.Tyr358=
ENST00000288840.9:c.1073A= ENSP00000288840.5:p.Tyr358=
ENST00000557916.5:c.1205A= ENSP00000452955.1:n.1205A=
ENST00000559931.5:c.377A= ENSP00000453446.1:n.377A=
NM_005585.4:c.1073A= NP_005576.3:p.Tyr358=
NR_027654.1:n.2128A=
XM_011521561.1:c.290A= XP_011519863.1:p.Tyr97=
XR_931825.1:n.2472A=
XM_011521561.2:c.290A= XP_011519863.1:p.Tyr97=
NM_005585.5:c.1073A= MANE Select NP_005576.3:p.Tyr358=
NR_027654.2:n.2228A=