Canonical Allele Identifier: CA2184234701

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781113T= , CM000677.2:g.66781113T=	GRCh38
NC_000015.9:g.67073451T= , CM000677.1:g.67073451T=	GRCh37
NC_000015.8:g.64860505T=	NCBI36
NG_012244.1:g.83778T=
NG_012244.2:g.83778T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1069T= MANE Select	ENSP00000288840.5:p.Phe357=
ENST00000288840.9:c.1069T=	ENSP00000288840.5:p.Phe357=
ENST00000557916.5:c.1201T=	ENSP00000452955.1:n.1201T=
ENST00000559931.5:c.373T=	ENSP00000453446.1:n.373T=
NM_005585.4:c.1069T=	NP_005576.3:p.Phe357=
NR_027654.1:n.2124T=
XM_011521561.1:c.286T=	XP_011519863.1:p.Phe96=
XR_931825.1:n.2468T=
XM_011521561.2:c.286T=	XP_011519863.1:p.Phe96=
NM_005585.5:c.1069T= MANE Select	NP_005576.3:p.Phe357=
NR_027654.2:n.2224T=